MCID: CNG006
MIFTS: 60

Congenital Hypothyroidism

Categories: Rare diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Congenital Hypothyroidism

Summaries for Congenital Hypothyroidism

NIH Rare Diseases : 53 Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying genemutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.

MalaCards based summary : Congenital Hypothyroidism, also known as myxedema, congenital, is related to pendred syndrome and neonatal hypothyroidism. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Human Thyroid Stimulating Hormone (TSH) signaling pathway. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes, and related phenotypes are hypogonadism and macroglossia

Genetics Home Reference : 25 Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.

Disease Ontology : 12 A hypothyroidism that is present at birth.

Wikipedia : 76 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

Related Diseases for Congenital Hypothyroidism

Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Diseases related to Congenital Hypothyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 188, show less)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome 31.8 DUOX2 PAX8 TG TPO
2 neonatal hypothyroidism 31.5 PAX8 SLC5A5 TG TPO TSHR
3 hypothyroidism, congenital, nongoitrous, 2 31.3 FOXE1 NKX2-1 PAX8 TG TSHR
4 thyroid ectopia 31.1 NKX2-5 PAX8
5 thyroiditis 30.5 TG TPO TSHB TSHR
6 hyperthyroxinemia 30.2 TPO TSHR
7 myxedema 30.2 TG TPO TSHR
8 hyperthyroidism 30.0 TG TPO TSHR
9 hypothyroidism, congenital, nongoitrous, 4 29.9 TG TPO TSHB
10 graves' disease 29.6 TG TPO TSHR
11 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 29.3 FOXE1 TG TPO
12 familial thyroid dyshormonogenesis 29.2 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
13 multinodular goiter 28.7 NKX2-1 PAX8 TG TPO TSHR
14 papillary carcinoma 28.7 NKX2-1 PAX8 TG TPO TSHR
15 athyreosis 28.0 FOXE1 NKX2-1 NKX2-5 PAX8 TG TSHR
16 goiter 27.4 DUOXA2 IYD NKX2-1 PAX8 SLC5A5 TG
17 hypothyroidism 24.5 DUOX2 DUOXA2 FOXE1 GLIS3 IYD NKX2-1
18 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.3
19 diabetes mellitus, neonatal, with congenital hypothyroidism 12.3
20 central congenital hypothyroidism 12.2
21 idiopathic congenital hypothyroidism 12.0
22 cretinism athyreotic 11.9
23 genetic transient congenital hypothyroidism 11.9
24 congenital hypothyroidism due to maternal intake of antithyroid drugs 11.9
25 congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies 11.9
26 congenital nongoitrous hypothryoidism 2 11.6
27 chediak-higashi syndrome 11.6
28 thyroid dyshormonogenesis 1 11.6
29 thyroid dyshormonogenesis 2a 11.5
30 hypothyroidism, central, and testicular enlargement 11.5
31 fetal iodine deficiency disorder 11.4
32 blood group, chido/rodgers system 11.4
33 central hypoventilation syndrome, congenital 11.4
34 thyroid dyshormonogenesis 6 11.2
35 hypothyroidism, congenital, nongoitrous, 1 11.2
36 congenital nongoitrous hypothryoidism 4 11.2
37 congenital nongoitrous hypothryoidism 5 11.2
38 congenital nongoitrous hypothryoidism 1 11.2
39 congenital nongoitrous hypothryoidism 3 11.2
40 congenital nongoitrous hypothryoidism 6 11.2
41 bamforth syndrome 11.0
42 cluster headache, familial 11.0
43 undifferentiated pleomorphic sarcoma 11.0
44 macroglossia 11.0
45 cyclic neutropenia 10.9
46 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
47 cluster headache 10.9
48 thyroid dyshormonogenesis 3 10.9
49 thyroid dyshormonogenesis 4 10.9
50 thyroid dyshormonogenesis 5 10.9
51 thyroid-stimulating hormone level quantitative trait locus 1 10.8
52 peripheral resistance to thyroid hormones 10.8
53 subacute lymphocytic thyroiditis 10.6 TG TPO
54 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.6 TG TPO
55 neonatal thyrotoxicosis 10.5 PAX8 TSHR
56 benign struma ovarii 10.5 TG TSHR
57 water-clear cell adenoma 10.5 PAX8 TG
58 ovarian germ cell teratoma 10.5 NKX2-1 TG
59 plummer's disease 10.5 TG TPO
60 ovarian germ cell cancer 10.5 NKX2-1 TG
61 premature menopause 10.4 TG TPO
62 malignant teratoma 10.4 NKX2-1 TG
63 malignant struma ovarii 10.4 NKX2-1 TG
64 pernicious anemia 10.3 TG TPO
65 phagocyte bactericidal dysfunction 10.3 DUOX1 DUOX2
66 graves disease 1 10.3 TG TPO TSHR
67 nontoxic goiter 10.3 TG TPO TSHR
68 toxic diffuse goiter 10.3 TG TPO TSHR
69 subacute thyroiditis 10.3 TG TPO TSHR
70 nodular goiter 10.3 TG TPO TSHR
71 autoimmune disease of endocrine system 10.3 TG TPO TSHR
72 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3 TG TPO TSHR
73 rete testis neoplasm 10.3 NKX2-1 PAX8
74 hypersensitivity reaction disease 10.2 TG TPO TSHR
75 aging 10.2
76 struma ovarii 10.2 NKX2-1 TG TSHR
77 dyshormonogenic goiter 10.2 DUOX2 DUOXA2 TG
78 papillary thyroid microcarcinoma 10.2 NKX2-1 TG TSHR
79 phenylketonuria 10.1
80 thyroid cancer, nonmedullary, 1 10.1 NKX2-1 PAX8 TG
81 ovarian cystic teratoma 10.1 NKX2-1 TG
82 endocrine gland cancer 10.0 PAX8 SLC5A5 TG
83 exophthalmos 10.0 TG TSHR
84 anaplastic thyroid cancer 9.9 NKX2-1 PAX8 TG TPO
85 cleft palate, isolated 9.9
86 lipoid congenital adrenal hyperplasia 9.9
87 down syndrome 9.8
88 pseudohypoparathyroidism 9.8
89 thyrotropin-releasing hormone deficiency 9.8
90 thyroid hormone metabolism, abnormal 9.8
91 hypothyroidism, congenital, nongoitrous, 3 9.8
92 muscular pseudohypertrophy-hypothyroidism syndrome 9.8
93 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.8
94 resistance to thyrotropin-releasing hormone syndrome 9.8
95 acute thyroiditis 9.8 FOXE1 TG
96 galactosemia 9.8
97 infertility 9.8
98 neuronitis 9.8
99 dwarfism 9.8
100 phace syndrome 9.8
101 endemic goiter 9.7 TG TPO TSHB TSHR
102 williams-beuren syndrome 9.7
103 maple syrup urine disease 9.7
104 biotinidase deficiency 9.7
105 chromosome 16p13.3 deletion syndrome, proximal 9.7
106 hydrops fetalis, nonimmune, and/or atrial septal defect 9.7
107 diabetes mellitus 9.7
108 hypogonadotropic hypogonadism 9.7
109 neonatal diabetes mellitus 9.7
110 hypertrichosis 9.7
111 homocystinuria 9.7
112 fetal edema 9.7
113 hydrops fetalis 9.7
114 precocious puberty 9.7
115 endotheliitis 9.7
116 hashimoto thyroiditis 9.7 TG TPO TSHB TSHR
117 adrenal rest tumor 9.6 DUOX1 DUOX2
118 follicular adenoma 9.6 NKX2-1 PAX8 TG TPO TSHR
119 thyroid cancer, nonmedullary, 2 9.6 NKX2-1 PAX8 TG TPO TSHR
120 cleidocranial dysplasia 9.5
121 beckwith-wiedemann syndrome 9.5
122 epicanthus 9.5
123 hirschsprung disease 1 9.5
124 attention deficit-hyperactivity disorder 9.5
125 prader-willi syndrome 9.5
126 teeth present at birth 9.5
127 tracheoesophageal fistula with or without esophageal atresia 9.5
128 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.5
129 cerebellar hypoplasia 9.5
130 cutis marmorata telangiectatica congenita 9.5
131 cystic fibrosis 9.5
132 glaucoma 3, primary congenital, a 9.5
133 achalasia-addisonianism-alacrima syndrome 9.5
134 intracranial hypertension, idiopathic 9.5
135 spinal muscular atrophy, type i 9.5
136 primrose syndrome 9.5
137 peters-plus syndrome 9.5
138 pierre robin syndrome 9.5
139 polycystic kidney disease 4 with or without polycystic liver disease 9.5
140 hirschsprung disease 2 9.5
141 choanal atresia, posterior 9.5
142 alacrima, achalasia, and mental retardation syndrome 9.5
143 hyperthyroxinemia, familial dysalbuminemic 9.5
144 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.5
145 hepatitis 9.5
146 ichthyosis lamellar 1 9.5
147 osteopetrosis 9.5
148 spinal muscular atrophy 9.5
149 lissencephaly 9.5
150 brachydactyly 9.5
151 inflammatory bowel disease 9.5
152 townes-brocks syndrome 9.5
153 ptosis 9.5
154 autosomal recessive congenital ichthyosis 9.5
155 albright's hereditary osteodystrophy 9.5
156 blepharophimosis 9.5
157 esophageal atresia 9.5
158 neonatal respiratory failure 9.5
159 respiratory failure 9.5
160 megacolon 9.5
161 esophagitis 9.5
162 hypertrophic pyloric stenosis 9.5
163 pyloric stenosis 9.5
164 nephrocalcinosis 9.5
165 ichthyosis 9.5
166 kernicterus 9.5
167 acromegaly 9.5
168 dyskeratosis congenita 9.5
169 central nervous system disease 9.5
170 turner syndrome 9.5
171 kidney disease 9.5
172 conjunctivitis 9.5
173 muscular atrophy 9.5
174 lung disease 9.5
175 nervous system disease 9.5
176 hypopituitarism 9.5
177 hyperphenylalaninemia 9.5
178 polycystic kidney disease 9.5
179 triple x syndrome 9.5
180 diencephalic syndrome 9.5
181 gigantism 9.5
182 hypoganglionosis 9.5
183 slipped capital femoral epiphysis 9.5
184 hypotonia 9.5
185 cardiogenic shock 9.5
186 differentiated thyroid carcinoma 8.6 FOXE1 NKX2-1 PAX8 TG TPO TSHR
187 thyroid gland disease 7.2 DUOX2 DUOXA2 FOXE1 NKX2-1 PAX8 TG
188 thyroid cancer 6.8 DUOX1 FOXE1 NKX2-1 PAX8 SLC5A5 TG

Graphical network of the top 20 diseases related to Congenital Hypothyroidism:



Diseases related to Congenital Hypothyroidism

Symptoms & Phenotypes for Congenital Hypothyroidism

Human phenotypes related to Congenital Hypothyroidism:

32 (showing 43, show less)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 32 frequent (33%) HP:0000135
2 macroglossia 32 hallmark (90%) HP:0000158
3 oral cleft 32 occasional (7.5%) HP:0000202
4 sinusitis 32 frequent (33%) HP:0000246
5 coarse facial features 32 frequent (33%) HP:0000280
6 hearing impairment 32 occasional (7.5%) HP:0000365
7 depressed nasal ridge 32 frequent (33%) HP:0000457
8 anosmia 32 frequent (33%) HP:0000458
9 abnormality of vision 32 occasional (7.5%) HP:0000504
10 cataract 32 occasional (7.5%) HP:0000518
11 optic atrophy 32 occasional (7.5%) HP:0000648
12 depressivity 32 frequent (33%) HP:0000716
13 anxiety 32 frequent (33%) HP:0000739
14 nephrolithiasis 32 occasional (7.5%) HP:0000787
15 hypothyroidism 32 hallmark (90%) HP:0000821
16 hypertension 32 occasional (7.5%) HP:0000822
17 anterior hypopituitarism 32 occasional (7.5%) HP:0000830
18 goiter 32 occasional (7.5%) HP:0000853
19 angiokeratoma corporis diffusum 32 frequent (33%) HP:0001071
20 muscular hypotonia 32 hallmark (90%) HP:0001252
21 global developmental delay 32 frequent (33%) HP:0001263
22 reduced tendon reflexes 32 frequent (33%) HP:0001315
23 umbilical hernia 32 hallmark (90%) HP:0001537
24 abnormality of the hair 32 frequent (33%) HP:0001595
25 hoarse cry 32 frequent (33%) HP:0001615
26 abnormal pericardium morphology 32 occasional (7.5%) HP:0001697
27 constipation 32 hallmark (90%) HP:0002019
28 hypothermia 32 frequent (33%) HP:0002045
29 sleep disturbance 32 hallmark (90%) HP:0002360
30 tracheoesophageal fistula 32 occasional (7.5%) HP:0002575
31 hypotension 32 occasional (7.5%) HP:0002615
32 abdominal distention 32 hallmark (90%) HP:0003270
33 paresthesia 32 occasional (7.5%) HP:0003401
34 short stature 32 frequent (33%) HP:0004322
35 large posterior fontanelle 32 hallmark (90%) HP:0004491
36 intestinal obstruction 32 occasional (7.5%) HP:0005214
37 abnormality of epiphysis morphology 32 occasional (7.5%) HP:0005930
38 prolonged neonatal jaundice 32 hallmark (90%) HP:0006579
39 thyroid dysgenesis 32 hallmark (90%) HP:0008188
40 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
41 intellectual disability, severe 32 frequent (33%) HP:0010864
42 arrhythmia 32 occasional (7.5%) HP:0011675
43 palpebral edema 32 frequent (33%) HP:0100540

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

46 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.85 NKX2-1 NKX2-5 PAX8 SLC5A5 TG TPO
2 growth/size/body region MP:0005378 9.65 NKX2-1 NKX2-5 PAX8 TG TPO TSHB
3 homeostasis/metabolism MP:0005376 9.32 GLIS3 NKX2-1 NKX2-5 PAX8 SLC5A5 TG

Drugs & Therapeutics for Congenital Hypothyroidism

Drugs for Congenital Hypothyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 39, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4,Phase 3
2 Pharmaceutical Solutions Phase 4
3
Flutamide Approved, Investigational Phase 3 13311-84-7 3397
4
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
5 Androgen Antagonists Phase 3
6 Androgens Phase 3
7 Antineoplastic Agents, Hormonal Phase 3
8 Contraceptive Agents Phase 3
9 Hormone Antagonists Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Luteolytic Agents Phase 3
12 Triptorelin Pamoate Phase 3
13 Antimetabolites Phase 3
14 Antimetabolites, Antineoplastic Phase 3
15
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
16
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
17
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19 Albumin-Bound Paclitaxel Phase 2
20 Antimitotic Agents Phase 2
21 Antineoplastic Agents, Phytogenic Phase 2
22 Histamine Antagonists Phase 2
23 Histamine H1 Antagonists Phase 2
24 Histamine H2 Antagonists Phase 2
25 Methylprednisolone acetate Phase 2
26 Methylprednisolone Hemisuccinate Phase 2
27 Prednisolone acetate Phase 2
28 Prednisolone hemisuccinate Phase 2
29 Prednisolone phosphate Phase 2
30
Iodine Approved, Investigational ,Not Applicable 7553-56-2 807
31
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
32
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
33 cadexomer iodine ,Not Applicable
34 Radiopharmaceuticals
35 Sodium Pertechnetate Tc 99m
36 Antioxidants Not Applicable
37 Micronutrients Not Applicable
38 Protective Agents Not Applicable
39 Trace Elements Not Applicable

Interventional clinical trials:

(showing 18, show less)
# Name Status NCT ID Phase Drugs
1 Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired Hypothyroidism Recruiting NCT02917863 Phase 4 L-Thyroxine (tablet, per os);L-Thyroxine (oral drops, solution)
2 Triptorelin, Flutamide, and External-Beam Radiation Therapy or External-Beam Radiation Therapy Alone in Treating Patients With Stage II or Stage III Prostate Cancer Unknown status NCT00104741 Phase 3 flutamide;triptorelin
3 Neoadjuvant Treatment for Advanced Rectal Carcinoma Recruiting NCT02551237 Phase 3 Capecitabine
4 EWOC-1 Trial: Carboplatin +/- Paclitaxel in Vulnerable Elderly Patients With Stage III-IV Advanced Ovarian Cancer Recruiting NCT02001272 Phase 2 Paclitaxel + Carboplatin every 3 weeks;Carboplatin monotherapy every 3 weeks;Weekly Paclitaxel and Carboplatin
5 Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy? Unknown status NCT00505479
6 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345
7 Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. Completed NCT01916018 Not Applicable
8 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 Not Applicable Levothyroxine
9 TG Gene Mutations and Congenital Hypothyroidism Completed NCT00493103
10 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
11 Generic vs. Name-Brand Levothyroxine Completed NCT00403390 Not Applicable Brand Name Levothyroxine (Synthroid);Generic formulation of Levothyroxine
12 A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication Completed NCT02307175
13 The Effects of Iodized Salt on Cognitive Development in Ethiopia Completed NCT01349634 Not Applicable
14 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
15 Selenium Supplementation in Pregnancy Completed NCT01465867 Not Applicable
16 Hypothyroidism With Congenital Heart Disease (CHD) Not yet recruiting NCT03496363
17 Subjective Factors of Polymedication in the Elderly: a Qualitative Study of the Perceptions of Patients, Relatives and Referent Physicians.(DOSAGE) Not yet recruiting NCT03309228
18 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Congenital Hypothyroidism

Cochrane evidence based reviews: congenital hypothyroidism

Genetic Tests for Congenital Hypothyroidism

Genetic tests related to Congenital Hypothyroidism:

# Genetic test Affiliating Genes
1 Congenital Hypothyroidism 29

Anatomical Context for Congenital Hypothyroidism

MalaCards organs/tissues related to Congenital Hypothyroidism:

41
Thyroid, Brain, Testes, Bone, Heart, Prostate, Pituitary

Publications for Congenital Hypothyroidism

Articles related to Congenital Hypothyroidism:

(showing 880, show less)
# Title Authors Year
1
Mean high dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism. ( 29325045 )
2018
2
Congenital Hypothyroidism. ( 29405999 )
2018
3
Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015. ( 29715190 )
2018
4
Abnormal expression of ephrin-A5 affects brain development of congenital hypothyroidism rats. ( 29762250 )
2018
5
microRNA-124-3p inhibits the progression of congenital hypothyroidism via targeting programmed cell death protein 6. ( 29805523 )
2018
6
Increased risk for inflammatory bowel disease in congenital hypothyroidism supports the existence of a shared susceptibility factor. ( 29977049 )
2018
7
Does initial dosing of levothyroxine in infants with congenital hypothyroidism lead to frequent dose adjustments secondary to iatrogenic hyperthyroidism on follow-up? ( 29715192 )
2018
8
Permanent Decompensated Congenital Hypothyroidism in Newborns with Whole-Blood Thyroid-Stimulating Hormone Concentrations between 8 and 10 mU/L: The Case for Lowering the Threshold. ( 29804122 )
2018
9
A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. ( 29759035 )
2018
10
The Protective effect of P7C3 against DNA and neuron damage in rat pups with congenital hypothyroidism. ( 29665652 )
2018
11
c-Fos downregulation positively regulates EphA5 expression in a congenital hypothyroidism rat model. ( 29330744 )
2018
12
A 7-year study on the prevalence of congenital hypothyroidism in northern Iran. ( 29881532 )
2018
13
Congenital Hypothyroidism Due to Dyshormonogenesis in 2 Siblings. ( 29450818 )
2018
14
The Effects of De-Whiskering and Congenital Hypothyroidism on The Development of Nitrergic Neurons in Rat Primary Somatosensory and Motor Cortices. ( 29633592 )
2018
15
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. ( 29650690 )
2018
16
Genetic and functional analysis of two missense<i>DUOX2</i>mutations in congenital hypothyroidism and goiter. ( 29435108 )
2018
17
Congenital Hypothyroidism Screening in Term Neonates using Umbilical Cord Blood TSH Values. ( 29911045 )
2018
18
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations. ( 29790453 )
2018
19
Conformation of the N-terminal ectodomain elicits different effects on DUOX function: a potential impact on congenital hypothyroidism caused by a H2O2 production defect. ( 29845893 )
2018
20
Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis. ( 29380252 )
2018
21
Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism. ( 29335252 )
2018
22
Early determinants of thyroid function outcome in children with congenital hypothyroidism and a normally located thyroid gland: a regional cohort study. ( 29968521 )
2018
23
Gender disparities in screening for congenital hypothyroidism using thyroxine as a primary screen. ( 29945892 )
2018
24
Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence? ( 29326865 )
2018
25
Congenital hypothyroidism. ( 29804102 )
2018
26
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism. ( 29146476 )
2018
27
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. ( 29720101 )
2018
28
Association between monoallelic<i>TSHR</i>mutations and congenital hypothyroidism: a statistical approach. ( 29092890 )
2018
29
The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand. ( 29750647 )
2018
30
Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey. ( 29750648 )
2018
31
Central congenital hypothyroidism caused by maternal thyrotoxicosis. ( 29572363 )
2018
32
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH. ( 29074613 )
2017
33
Congenital Hypothyroidism: Facts, Facets &amp;amp; Therapy. ( 28176629 )
2017
34
Congenital Hypothyroidism in Neonates of a Tertiary Care Hospital. ( 29142577 )
2017
35
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. ( 28100324 )
2017
36
The Impact of Iodine Status on the Recall Rate of the Screening Program for Congenital Hypothyroidism: Findings from Two National Studies in Iran. ( 29084139 )
2017
37
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
38
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
39
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. ( 28749785 )
2017
40
Transient Congenital Hypothyroidism Alters Gene Expression of Glucose Transporters and Impairs Glucose Sensing Apparatus in Young and Aged Offspring Rats. ( 29073628 )
2017
41
Intellectual development in preschool children with early treated congenital hypothyroidism. ( 28690988 )
2017
42
Etiological evaluation of primary congenital hypothyroidism cases. ( 28747839 )
2017
43
Homozygous DUOXA2 mutation (p.Tyr138(*)) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature. ( 28626131 )
2017
44
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. ( 28541007 )
2017
45
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. ( 28215547 )
2017
46
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. ( 28285292 )
2017
47
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. ( 28358714 )
2017
48
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? ( 28694389 )
2017
49
TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM. ( 28683242 )
2017
50
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism. ( 28633507 )
2017
51
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. ( 28898885 )
2017
52
Intelligence Quotient at the Age of 6 years of Iranian Children with Congenital Hypothyroidism. ( 28952455 )
2017
53
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. ( 28398607 )
2017
54
Congenital hypothyroidism: insights into pathogenesis and treatment. ( 29026407 )
2017
55
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. ( 28060725 )
2017
56
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. ( 28666341 )
2017
57
Provider variability in the initial diagnosis and treatment of congenital hypothyroidism. ( 28328531 )
2017
58
Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland. ( 28690990 )
2017
59
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. ( 28938886 )
2017
60
Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey. ( 28368265 )
2017
61
Sustained attention in school-age children with congenital hypothyroidism: Influence of episodes of overtreatment in the first three years of life. ( 29162287 )
2017
62
Hormonal and testicular changes in rats submitted to congenital hypothyroidism in early life. ( 27793676 )
2017
63
Influence of topical iodine-containing antiseptics used during delivery on recall rate of congenital hypothyroidism screening program. ( 28809751 )
2017
64
Screening of congenital hypothyroidism in preterm, low birth weight and very low birth weight neonates: A systematic review. ( 28811156 )
2017
65
Vocal Evaluation of Children with Congenital Hypothyroidism. ( 28986152 )
2017
66
Cognitive profiles of patients with early detected and treated congenital hypothyroidism. ( 28097835 )
2017
67
Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening. ( 28868522 )
2017
68
Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism. ( 28225993 )
2017
69
Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10I1IU/mL have congenital hypothyroidism. ( 28738186 )
2017
70
A Frequent Oligogenic Involvement in Congenital Hypothyroidism. ( 28444304 )
2017
71
[Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis]. ( 28273705 )
2017
72
Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter. ( 27862717 )
2017
73
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. ( 28412200 )
2017
74
Fighting against congenital hypothyroidism - Old soldiers never die. ( 28916230 )
2017
75
Dyskeratosis congenita associated with congenital hypothyroidism. ( 29058334 )
2017
76
Congenital Hypothyroidism: Role of Nuclear Medicine. ( 28237002 )
2017
77
Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test. ( 28917084 )
2017
78
Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism. ( 29201074 )
2017
79
Neuroprotective activity of cannabinoid receptor-2 against oxidative stress and apoptosis in rat pups having experimentally-induced congenital hypothyroidism. ( 28799288 )
2017
80
Congenital urogenital abnormalities in children with congenital hypothyroidism. ( 28638814 )
2017
81
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. ( 27525530 )
2016
82
Congenital hypothyroidism - Polish recommendations for therapy, treatment monitoring, and screening tests in special categories of neonates with increased risk of hypothyroidism. ( 27828692 )
2016
83
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter. ( 27421132 )
2016
84
Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia. ( 27658135 )
2016
85
Congenital hypothyroidism with delayed thyroid-stimulating hormone elevation in premature infants born at less than 30 weeks gestation. ( 27906195 )
2016
86
Neonatal Screening for congenital hypothyroidism in Razavi Khorasan Province, Iran. ( 27611842 )
2016
87
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism. ( 26886089 )
2016
88
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. ( 27166716 )
2016
89
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. ( 26777470 )
2016
90
CONGENITAL HYPOTHYROIDISM AND BONE REMODELING CYCLE. ( 27840329 )
2016
91
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. ( 26742565 )
2016
92
Growth development in children with congenital hypothyroidism: the effect of screening and treatment variables-a comprehensive longitudinal study. ( 27477291 )
2016
93
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management. ( 27511826 )
2016
94
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. ( 27637299 )
2016
95
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. ( 27061120 )
2016
96
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates. ( 27060741 )
2016
97
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. ( 27173810 )
2016
98
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
99
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
100
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. ( 27557340 )
2016
101
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. ( 27108200 )
2016
102
Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism. ( 26864598 )
2016
103
Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism. ( 27494505 )
2016
104
Congenital Hypothyroidism: Optimal Initial Dosage and Time of Initiation of Treatment: A Systematic Review. ( 27942261 )
2016
105
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. ( 27373559 )
2016
106
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. ( 27135621 )
2016
107
Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn. ( 27595265 )
2016
108
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. ( 27255745 )
2016
109
Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism. ( 27267969 )
2016
110
Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism. ( 27696498 )
2016
111
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. ( 26709262 )
2016
112
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. ( 26735259 )
2016
113
National Survey on Concepts for Congenital Hypothyroidism Screening of NICUs in Japan. ( 27192394 )
2016
114
Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone &amp;lt;10a88mU/L. ( 27016213 )
2016
115
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. ( 27349010 )
2016
116
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis. ( 27169104 )
2016
117
Congenital Hypothyroidism: An Unusual Combination of Biochemical Abnormalities. ( 27994903 )
2016
118
Nationwide Evaluation of Congenital Hypothyroidism Screening during Neonatal Extracorporeal Membrane Oxygenation. ( 27639769 )
2016
119
Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA. ( 27595483 )
2016
120
Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. ( 28144251 )
2016
121
Perfluoroalkyl substances in serum from South Korean infants with congenital hypothyroidism and healthy infants - Its relationship with thyroid hormones. ( 26950028 )
2016
122
Detecting congenital hypothyroidism with newborn screening: the relevance of thyroid-stimulating hormone cutoff values. ( 28024960 )
2016
123
The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study. ( 27283138 )
2016
124
Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism. ( 27089409 )
2016
125
A baby with congenital hypothyroidism born to a hypothyroid mother who expressed undiagnosed thyroid stimulation blocking antibody. ( 27777909 )
2016
126
Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families. ( 27244801 )
2016
127
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. ( 26995701 )
2016
128
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase. ( 26894573 )
2016
129
Liothyronine Improves Biochemical Control of Congenital Hypothyroidism in Patients with Central Resistance to Thyroid Hormone. ( 27178621 )
2016
130
Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. ( 27086592 )
2016
131
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. ( 27207603 )
2016
132
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. ( 27498126 )
2016
133
The role of season and climate in the incidence of congenital hypothyroidism in Kerman province, Southeastern Iran. ( 27941171 )
2016
134
The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism. ( 26990941 )
2016
135
Reference intervals for thyroid stimulating hormone and free thyroxine derived from neonates undergoing routine screening for congenital hypothyroidism at a university teaching hospital in Nairobi, Kenya: a cross sectional study. ( 27216400 )
2016
136
Undiagnosed congenital hypothyroidism in a newborn treated with dopamine infusion. ( 25724212 )
2015
137
Effective Strategy for Newborn Screening for Congenital Hypothyroidism. ( 26499024 )
2015
138
Hippocampal Functioning and Verbal Associative Memory in Adolescents with Congenital Hypothyroidism. ( 26539162 )
2015
139
Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism. ( 26356361 )
2015
140
Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism. ( 25707783 )
2015
141
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. ( 26349762 )
2015
142
Spatial Analysis of Neonatal Congenital Hypothyroidism and Nitrate as an Environmental Pollutant in Isfahan Province During 2010-2013. ( 26425331 )
2015
143
Recent advances in central congenital hypothyroidism. ( 26416826 )
2015
144
Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study. ( 26511640 )
2015
145
Neurophysiologic evaluation of infants with congenital hypothyroidism before and after treatment. ( 25052510 )
2015
146
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family. ( 26777044 )
2015
147
Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening. ( 25572470 )
2015
148
Congenital hypothyroidism: recent advances. ( 26313902 )
2015
149
Effect of atomoxetine on the cognitive functions in treatment of attention deficit hyperactivity disorder in children with congenital hypothyroidism: a pilot study. ( 25896257 )
2015
150
Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. ( 25720050 )
2015
151
Newborn screening for congenital hypothyroidism in Henan province, China. ( 26522654 )
2015
152
The role of I imaging in the evaluation of infants with mild congenital hypothyroidism. ( 25531155 )
2015
153
Sonographic evaluation of children with congenital hypothyroidism. ( 26379320 )
2015
154
Case Report of GNAS Epigenetic Defect Revealed by a Congenital Hypothyroidism. ( 25802348 )
2015
155
Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland. ( 26160341 )
2015
156
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism. ( 26362610 )
2015
157
Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism. ( 25879312 )
2015
158
Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study. ( 25762444 )
2015
159
Single newborn screen or routine second screening for primary congenital hypothyroidism. ( 26293295 )
2015
160
Factors affecting parent-child relationships one year after positive newborn screening for cystic fibrosis or congenital hypothyroidism. ( 25493463 )
2015
161
[DUOX2 mutations in children with congenital hypothyroidism]. ( 25616291 )
2015
162
Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2. ( 26565538 )
2015
163
Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland. ( 25634148 )
2015
164
Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism. ( 25591844 )
2015
165
Effective Strategy for Newborn Screening for Congenital Hypothyroidism: Authors Reply. ( 26499025 )
2015
166
[Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism]. ( 26663066 )
2015
167
Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment. ( 26244672 )
2015
168
NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM. ( 27004363 )
2015
169
Compound Heterozygous DUOX2 Gene Mutations (c.2335-1G&amp;gt;C/c.3264_3267delCAGC) Associated with Congenital Hypothyroidism. Characterization of Complex Cryptic Splice Sites by Minigene Analysis. ( 26506010 )
2015
170
Prolonged ileus in an infant presenting with primary congenital hypothyroidism. ( 25866693 )
2015
171
Changes in the incidence and etiology of congenital hypothyroidism detected during 30A years of a screening program in central Serbia. ( 26346241 )
2015
172
Cardiac Function in Newborns with Congenital Hypothyroidism: Association with Thyroid-Stimulating Hormone Levels. ( 26777042 )
2015
173
Long-term Surveillance of Children with Congenital Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE &amp;quot;Hypo Dok&amp;quot;). ( 26038964 )
2015
174
The evaluation of transient hypothyroidism in patients diagnosed with congenital hypothyroidism. ( 26422840 )
2015
175
A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family. ( 27617131 )
2015
176
Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus Guideline. ( 25776656 )
2015
177
Novel genetic variants in the TPO gene cause congenital hypothyroidism. ( 26174974 )
2015
178
Congenital hypothyroidism. ( 25729683 )
2015
179
A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects. ( 24945425 )
2014
180
Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia. ( 24275619 )
2014
181
ENDOCRINOLOGY AND ADOLESCENCE: Congenital Hypothyroidism A clinical update of long-term outcome in young adults. ( 25225479 )
2014
182
One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism. ( 25241611 )
2014
183
Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis. ( 25277881 )
2014
184
What has national screening program changed in cases with congenital hypothyroidism? ( 25562017 )
2014
185
Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia-a multiethnic country. ( 25192932 )
2014
186
Congenital hypothyroidism screening program in iran; a systematic review and metaanalysis. ( 26019769 )
2014
187
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism. ( 24745015 )
2014
188
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
189
Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement. ( 25088493 )
2014
190
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. ( 25153580 )
2014
191
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion. ( 25153578 )
2014
192
Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward. ( 25212576 )
2014
193
Unusual course of congenital hypothyroidism and route of the L-thyroxine treatment in a preterm newborn. ( 25241613 )
2014
194
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism. ( 25146893 )
2014
195
High incidence of congenital hypothyroidism in one region of the republic of macedonia. ( 25741212 )
2014
196
Diagnosis, treatment and outcome of congenital hypothyroidism. ( 25231444 )
2014
197
TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM. ( 25133201 )
2014
198
Large thyroid cyst in a patient with congenital hypothyroidism. ( 25627053 )
2014
199
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism. ( 24690939 )
2014
200
Congenital hypothyroidism and concurrent renal insufficiency in a kitten. ( 25685940 )
2014
201
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and &amp;quot;Apparent&amp;quot; Thyroid Dysgenesis. ( 24248179 )
2014
202
Congenital hypothyroidism: etiology and growth-development outcome. ( 25369009 )
2014
203
The severity of congenital hypothyroidism of central origin should not be underestimated. ( 25347570 )
2014
204
A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey. ( 25012771 )
2014
205
Congenital hypothyroidism and the importance of universal newborn screening. ( 24323500 )
2014
206
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ( 25214233 )
2014
207
Congenital Hypothyroidism Long-Term Follow-up Project: Navigating the Rough Waters of a Multi-Center, Multi-State Public Health Project. ( 25403899 )
2014
208
Neonatal screening for congenital hypothyroidism. ( 25231443 )
2014
209
Earlier re-evaluation may be possible in pediatric patients with eutopic congenital hypothyroidism requiring lower L-thyroxine doses. ( 25346918 )
2014
210
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands. ( 25248169 )
2014
211
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome. ( 24499175 )
2014
212
Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism. ( 25465605 )
2014
213
[Clinical and ultrasound features of congenital hypothyroidism]. ( 25079191 )
2014
214
Clinical genetics of congenital hypothyroidism. ( 25231445 )
2014
215
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. ( 25403430 )
2014
216
Visuospatial, visuoperceptual, and visuoconstructive abilities in congenital hypothyroidism. ( 24124766 )
2013
217
Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010). ( 24008435 )
2013
218
Treating congenital hypothyroidism--which levothyroxine? ( 23458784 )
2013
219
Bilateral galactocele in a male infant with Down syndrome and congenital hypothyroidism. ( 24134763 )
2013
220
Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey. ( 23748057 )
2013
221
Monitoring and prognostic evaluation of patients with congenital hypothyroidism treated in a pediatric endocrinology unit. ( 24292031 )
2013
222
Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. ( 23681264 )
2013
223
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. ( 23840807 )
2013
224
THE CLINICAL AND MOLECULAR CHARACTERIZATION OF PATIENTS WITH DYSHORMONOGENIC CONGENITAL HYPOTHYROIDISM REVEALS SPECIFIC DIAGNOSTIC CLUES FOR DUOX2 DEFECTS. ( 24423310 )
2013
225
Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. ( 23780375 )
2013
226
Dyshormonogenetic goiter-like changes in a child with congenital hypothyroidism and a euthyroid adult. ( 22362641 )
2013
227
Lissencephaly presenting with congenital hypothyroidism. ( 23751382 )
2013
228
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. ( 24174944 )
2013
229
A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. ( 23292166 )
2013
230
Risk factors of congenital hypothyroidism using propensity score: a matched case-control study. ( 24077472 )
2013
231
Changes of red blood cell rheology in newborns with congenital hypothyroidism during treatment. ( 23544882 )
2013
232
Congenital hypothyroidism - An usual suspect at an unusual age: A case series. ( 24251153 )
2013
233
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene. ( 23455760 )
2013
234
The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism. ( 23412840 )
2013
235
Analysis of EphA5 receptor in the developing rat brain: an in vivo study in congenital hypothyroidism model. ( 23636281 )
2013
236
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism. ( 24129411 )
2013
237
Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. ( 23426615 )
2013
238
A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect. ( 24158420 )
2013
239
Growth and specialized growth charts of children with congenital hypothyroidism detected by neonatal screening in isfahan, iran. ( 23476799 )
2013
240
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. ( 23404215 )
2013
241
Prevalence of permanent congenital hypothyroidism in isfahan-iran. ( 24498491 )
2013
242
Changes of antithroglobulin antibody in children with congenital hypothyroidism. ( 24904874 )
2013
243
50 years ago in The Journal of Pediatrics: The development of children with congenital hypothyroidism. A note on early, temporary replacement therapy for 2 goitrous infants. ( 24160658 )
2013
244
A retrospective review of newborn screening for congenital hypothyroidism and newborn thyroid disease at a major medical center. ( 23785061 )
2013
245
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess. ( 23239635 )
2013
246
Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism. ( 23828490 )
2013
247
Cognitive development in congenital hypothyroidism: is overtreatment a greater threat than undertreatment? ( 23979950 )
2013
248
Prevalence of transient congenital hypothyroidism in central part of Iran. ( 24379847 )
2013
249
Congenital hypothyroidism. ( 23398895 )
2013
250
A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism. ( 23412856 )
2013
251
Aortic Intima-Media Thickness in Newborns with Congenital Hypothyroidism. ( 24051741 )
2013
252
Congenital hypothyroidism alters the oxidative status, enzyme activities and morphological parameters in the hippocampus of developing rats. ( 23693027 )
2013
253
A Novel, Homozygous c.1502T&amp;gt;G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter. ( 23737781 )
2013
254
Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. ( 23949896 )
2013
255
The association between some endocrine disruptors in human plasma and the occurrence of congenital hypothyroidism. ( 23376177 )
2013
256
Newborn screening for congenital hypothyroidism. ( 23791721 )
2013
257
Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene. ( 23997037 )
2013
258
Screening for congenital hypothyroidism in newborns transferred to neonatal intensive care. ( 23183553 )
2013
259
Children with congenital hypothyroidism have similar neuroradiological abnormal findings as healthy ones. ( 24222727 )
2013
260
Epidemiology and clinical characteristics of congenital hypothyroidism in an Asian population: a nationwide population-based study. ( 23291568 )
2013
261
All-cause and disease-specific mortality and morbidity in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. ( 23365128 )
2013
262
Congenital Hypothyroidism Treatment in Infants: A Comparative Study between Liquid and Tablet Formulations of Levothyroxine. ( 24247169 )
2013
263
Experience in treating congenital hypothyroidism: implications regarding free thyroxine and thyrotropin steady-state concentrations during optimal levothyroxine treatment. ( 23013069 )
2013
264
Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: data from the Italian National Registry of infants with congenital hypothyroidism. ( 23443814 )
2013
265
Neurodevelopment evaluation in children with congenital hypothyroidism by Bayley-III. ( 22858380 )
2013
266
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. ( 23457309 )
2013
267
Imaging criteria for categorizing congenital hypothyroidism into thyroid hypoplasia and dyshormonogenesis subtypes. ( 23525719 )
2013
268
Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent management. ( 23154163 )
2013
269
A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract. ( 23647375 )
2013
270
Transient hypothyroidism at 3-year follow-up among cases of congenital hypothyroidism detected by newborn screening. ( 22878110 )
2013
271
Diseases accompanying congenital hypothyroidism. ( 24353135 )
2013
272
Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. ( 23312689 )
2013
273
Difference in the incidence of congenital hypothyroidism among world countries. ( 24413874 )
2013
274
Generic and brand-name L-thyroxine are not bioequivalent for children with severe congenital hypothyroidism. ( 23264396 )
2013
275
Congenital hypothyroidism presenting with postpartum bradycardia. ( 23458047 )
2013
276
No Crying Episode after DwPT- A Case of Congenital Hypothyroidism. ( 23998117 )
2013
277
Newborn screening for congenital hypothyroidism. ( 23154158 )
2013
278
Neuroplastic effects of music lessons on hippocampal volume in children with congenital hypothyroidism. ( 24064411 )
2013
279
A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. ( 24127536 )
2013
280
Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring. ( 23861458 )
2013
281
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. ( 24117978 )
2013
282
Early adiposity rebound and obesity in children with congenital hypothyroidism. ( 23590955 )
2013
283
Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005-2009. ( 23402602 )
2013
284
Risk factors for congenital hypothyroidism in Egypt: results of a population case-control study (2003-2010). ( 23793431 )
2013
285
Congenital Hypothyroidism Presenting with Seizures and Pseudo-Hirschsprung's Disease in Newborn. ( 24193956 )
2013
286
Generic levothyroxine compared with synthroid in young children with congenital hypothyroidism. ( 23293325 )
2013
287
Hirschsprungs disease with congenital hypothyroidism. ( 22484747 )
2012
288
Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993-2010. ( 22723332 )
2012
289
The role of maternal thyroid stimulating hormone receptor blocking antibodies in the etiology of congenital hypothyroidism in isfahan, iran. ( 22347610 )
2012
290
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program. ( 23033178 )
2012
291
Congenital hypothyroidism: a review of the risk factors. ( 23292624 )
2012
292
A case of congenital hypothyroidism in PHACE syndrome. ( 22876567 )
2012
293
Congenital hypothyroidism: Screening dilemma. ( 23565366 )
2012
294
Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry? ( 23396030 )
2012
295
Ultrasonographic description of brain cortex and cingulate sulcus development in Mexican neonates and infants with congenital hypothyroidism. ( 22570956 )
2012
296
Missed congenital hypothyroidism in an identical twin. ( 22970836 )
2012
297
Different aspects of kidney function in well-controlled congenital hypothyroidism. ( 23261862 )
2012
298
Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. ( 21958696 )
2012
299
Performance metrics after changes in screening protocol for congenital hypothyroidism. ( 23045555 )
2012
300
The autonomic condition of children with congenital hypothyroidism as indicated by the analysis of heart rate variability. ( 22112613 )
2012
301
Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper. ( 22301913 )
2012
302
Congenital hypothyroidism screening program in Turkey: a local evaluation. ( 23692784 )
2012
303
Congenital hypothyroidism with goiter in Tenterfield terriers. ( 23113744 )
2012
304
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. ( 22898500 )
2012
305
Evaluation of congenital hypothyroidism in fars province, iran. ( 23056868 )
2012
306
Congenital anomalies in infant with congenital hypothyroidism. ( 23074545 )
2012
307
Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening. ( 23034129 )
2012
308
Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening. ( 23027136 )
2012
309
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. ( 23169673 )
2012
310
Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism. ( 22953072 )
2012
311
Thyroid peroxidase gene mutation in patients with congenital hypothyroidism in isfahan, iran. ( 22919382 )
2012
312
Congenital hypothyroidism caused by excess prenatal maternal iodineA ingestion. ( 22841183 )
2012
313
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism. ( 22293317 )
2012
314
Elevated serum ferritin and soluble transferrin receptor in infants with congenital hypothyroidism. ( 22768652 )
2012
315
Congenital hypothyroidism due to maternal radioactive iodine exposure during pregnancy. ( 22672871 )
2012
316
Assessment of impact of internal exposure to PBDEs on human thyroid function--comparison between congenital hypothyroidism and normal paired blood. ( 22578177 )
2012
317
Long-term consequences of the early treatment of children with congenital hypothyroidism detected by neonatal screening in Nanjing, China: a 12-year follow-up study. ( 21296863 )
2012
318
Epidemiology of congenital hypothyroidism: what can be deduced from the Italian registry of infants with congenital hypothyroidism. ( 23025761 )
2012
319
Congenital Hypothyroidism with Gland in situ is More Frequent than Previously Thought. ( 22654855 )
2012
320
Detection and treatment of congenital hypothyroidism. ( 22009163 )
2012
321
Refractory cardiogenic shock in an infant with congenital hypothyroidism. ( 23188956 )
2012
322
Congenital hypothyroidism. ( 22570946 )
2012
323
Synchronous occurrence of papillary carcinoma in the thyroid gland and thyroglossal duct in an adolescent with congenital hypothyroidism. ( 22394702 )
2012
324
Linear growth and neurodevelopmental outcome of children with congenital hypothyroidism detected by neonatal screening: A controlled study. ( 22837917 )
2012
325
Neonatal screening for congenital hypothyroidism in Japan. ( 23330249 )
2012
326
Neonatal screening for congenital hypothyroidism in East Azerbaijan, Iran: the first report. ( 23060475 )
2012
327
High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role? ( 23326768 )
2012
328
Evaluation of current guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis. ( 22369300 )
2012
329
Fecundity in young adults treated early for congenital hypothyroidism is related to the initial severity of the disease: a longitudinal population-based cohort study. ( 22419725 )
2012
330
Visuospatial associative memory and hippocampal functioning in congenital hypothyroidism. ( 22114849 )
2012
331
Prevalence of permanent and transient congenital hypothyroidism in Babol City -Iran. ( 22926374 )
2012
332
Ultrasound for primary imaging of congenital hypothyroidism. ( 22915427 )
2012
333
Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects. ( 22911283 )
2012
334
Permanent and transient congenital hypothyroidism in preterm infants. ( 22107264 )
2012
335
Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil. ( 22666737 )
2012
336
Hypothyroidism in children beyond 5 y of age: delayed diagnosis of congenital hypothyroidism. ( 22237638 )
2012
337
Identifying quantitative trait loci affecting resistance to congenital hypothyroidism in 129/SvJcl strain mice. ( 22299049 )
2012
338
Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism. ( 22876532 )
2012
339
Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome. ( 22198067 )
2012
340
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. ( 22405933 )
2012
341
Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation. ( 21689132 )
2012
342
Congenital hypothyroidism mutations affect common folding and trafficking in the I+/I^-hydrolase fold proteins. ( 23035660 )
2012
343
In congenital hypothyroidism, an initial L-thyroxine dose of 10-12 I1g/kg/day is sufficient and sometimes excessive based on thyroid tests 1 month later. ( 23426811 )
2012
344
Unawareness of the effects of soy intake on the management of congenital hypothyroidism. ( 22908106 )
2012
345
Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects. ( 21816548 )
2012
346
Congenital hypothyroidism. ( 22256695 )
2011
347
Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome. ( 21448332 )
2011
348
Transient congenital hypothyroidism due to thyroid-stimulating hormone receptor blocking antibodies: a case series. ( 21606073 )
2011
349
Congenital hypothyroidism of dogs and cats: a review. ( 21541884 )
2011
350
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. ( 21543982 )
2011
351
Informatics of newborn screening for congenital hypothyroidism in Alberta 2005-08: flow of information from birth to treatment. ( 21485968 )
2011
352
Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study. ( 21389139 )
2011
353
Hypertrichosis due to Congenital Hypothyroidism. ( 21769236 )
2011
354
Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in QuAcbec. ( 21632812 )
2011
355
Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis. ( 21054242 )
2011
356
[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism]. ( 22093430 )
2011
357
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test. ( 21331666 )
2011
358
Impaired neuromotor outcome in school-age children with congenital hypothyroidism receiving early high-dose substitution treatment. ( 21857388 )
2011
359
Does congenital hypothyroidism have different etiologies in iran? ( 23056786 )
2011
360
Reevaluation of congenital hypothyroidism. ( 21478566 )
2011
361
Congenital hypothyroidism: delayed detection after birth and monitoring treatment in the first year of life. ( 21220141 )
2011
362
The role of ultrasonography in primary congenital hypothyroidism. ( 22973380 )
2011
363
Frequency of congenital hypothyroidism in neonates in the Konya region, Turkey. ( 21648280 )
2011
364
Transient congenital hypothyroidism. ( 21966647 )
2011
365
A study of the etiology of congenital hypothyroidism in the Niigata prefecture of Japan in patients born between 1989 and 2005 and evaluated at ages 5-19. ( 21309714 )
2011
366
Congenital hypothyroidism: managing the hinterland between fact and theory. ( 20959358 )
2011
367
Thyroglobulin gene mutations in congenital hypothyroidism. ( 21372558 )
2011
368
The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution. ( 20584847 )
2011
369
Congenital hypothyroidism with severe hypoganglionosis of the colon in a 10 years old girl, a case report. ( 23409402 )
2011
370
Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment. ( 21467693 )
2011
371
Thyroid dysfunctions in children detected in mass screening for congenital hypothyroidism. ( 21648281 )
2011
372
Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes. ( 21232766 )
2011
373
Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions. ( 21098687 )
2011
374
Congenital hypothyroidism: analysis of discordant US and scintigraphic findings. ( 21339351 )
2011
375
Persistent hyperthyrotropinemia in congenital hypothyroidism: successful combination treatment with levothyroxine and liothyronine. ( 21823534 )
2011
376
Natal teeth in an infant with congenital hypothyroidism. ( 22048606 )
2011
377
Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH. ( 22155464 )
2011
378
The usefulness of ultrasound in follow-up of a patient with dyshormonogenetic congenital hypothyroidism. ( 21932596 )
2011
379
Increased risk of coeliac disease in patients with congenital hypothyroidism. ( 21757873 )
2011
380
Determinants of thyrotropin rise in congenital hypothyroidism. ( 21920541 )
2011
381
Increasing incidence of congenital hypothyroidism: some answers, more questions. ( 21816799 )
2011
382
Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. ( 20584796 )
2011
383
Rare presentations of congenital hypothyroidism. ( 22332453 )
2011
384
Neonatal plasma TSH--estimated upper reference intervals for diagnosis and follow up of congenital hypothyroidism. ( 21545246 )
2011
385
Clinical monitoring guidelines for congenital hypothyroidism: laboratory outcome data in the first year of life. ( 21094953 )
2011
386
Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism. ( 21565787 )
2011
387
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. ( 21707688 )
2011
388
The continuing health burden of congenital hypothyroidism in the era of neonatal screening. ( 21602460 )
2011
389
Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? ( 21242230 )
2011
390
A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes. ( 21186955 )
2011
391
Von Willebrand factor, and soluble intercellular and vascular cell adhesion molecules as indices of endothelial activation in patients with congenital hypothyroidism. ( 21734348 )
2011
392
The increased incidence of congenital hypothyroidism: fact or fancy? ( 21623857 )
2011
393
[Magnetic resonance imaging and hormonal profile of the pituitary gland in patients with primary congenital hypothyroidism]. ( 21595170 )
2011
394
Hippocampal size and memory functioning in children and adolescents with congenital hypothyroidism. ( 21697249 )
2011
395
Congenital hypothyroidism in association with chromosome 3p25.3-pter deletion. ( 22145477 )
2011
396
Episodes of overtreatment during the first six months in children with congenital hypothyroidism and their relationships with sustained attention and inhibitory control at school age. ( 20395659 )
2010
397
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. ( 20718765 )
2010
398
Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data. ( 20156344 )
2010
399
Congenital hypothyroidism due to unexpected iodine sources. ( 20431276 )
2010
400
Newborn screening strategies for congenital hypothyroidism: an update. ( 20195902 )
2010
401
Osteopetrosis and congenital hypothyroidism complicated by slipped capital femoral epiphysis. ( 20150025 )
2010
402
Thyroid profile of term appropriate for gestational age neonates in Nigeria: a forerunner to screening for congenital hypothyroidism. ( 20085966 )
2010
403
Screening for congenital hypothyroidism in extreme premature and/or very low birth weight newborns: the importance of a specific protocol. ( 20432805 )
2010
404
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. ( 20157192 )
2010
405
Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination. ( 20467163 )
2010
406
Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. ( 20799077 )
2010
407
High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism. ( 21714466 )
2010
408
Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States. ( 20435719 )
2010
409
Congenital hypothyroidism in a kitten resulting in decreased IGF-I concentration and abnormal liver function tests. ( 20223692 )
2010
410
Lingual thyroid as a cause of primary hypothyroidism: congenital hypothyroidism in the neonatal period and beyond. ( 20356923 )
2010
411
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. ( 20122987 )
2010
412
Effects of long-term L-thyroxine treatment on endothelial function and arterial distensibility in young adults with congenital hypothyroidism. ( 19903797 )
2010
413
Congenital hypothyroidism. ( 20537182 )
2010
414
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. ( 20187165 )
2010
415
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. ( 20484477 )
2010
416
Thyroid function abnormalities among first-degree relatives of Iranian congenital hypothyroidism neonates. ( 20003140 )
2010
417
Diagnostic re-evaluation of children with congenital hypothyroidism. ( 20308767 )
2010
418
Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain. ( 20432804 )
2010
419
Congenital hypothyroidism: an evolving common clinical conundrum. ( 20823472 )
2010
420
Congenital hypothyroidism is not always permanent: caveats to newborn thyroid screen interpretation. ( 21048256 )
2010
421
Effect of temperature changes on the occurrence of congenital hypothyroidism. ( 20956721 )
2010
422
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis. ( 20857061 )
2010
423
A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. ( 20160132 )
2010
424
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. ( 20094846 )
2010
425
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect. ( 21340161 )
2010
426
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. ( 20427504 )
2010
427
Congenital hypothyroidism and nephrocalcinosis. ( 20371898 )
2010
428
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. ( 20972728 )
2010
429
Esophageal atresia concomitant with congenital hypothyroidism and phenylketonuria in a newborn. ( 20432825 )
2010
430
Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary. ( 20435715 )
2010
431
Congenital hypothyroidism: etiology. ( 21073124 )
2010
432
Effect of laboratory practices on the incidence rate of congenital hypothyroidism. ( 20435717 )
2010
433
Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. ( 20591982 )
2010
434
Hypertrabecular aspect of left ventricular myocardium: a possible complication of congenital hypothyroidism in a preterm infant. ( 20121390 )
2010
435
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. ( 21048839 )
2010
436
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317 )
2010
437
Screening: Sensitivity versus specificity: neonatal screening for congenital hypothyroidism. ( 21080544 )
2010
438
Impaired astrocytic extracellular matrix distribution under congenital hypothyroidism affects neuronal development in vitro. ( 20839308 )
2010
439
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas. ( 20435716 )
2010
440
High prevalence of associated birth defects in congenital hypothyroidism. ( 20454578 )
2010
441
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. ( 21714469 )
2010
442
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. ( 20435718 )
2010
443
Newborn screening for congenital hypothyroidism: improved assay performance has created an evidence gap. ( 20446113 )
2010
444
Polysomnographic features in infants with early diagnosis of congenital hypothyroidism. ( 19665328 )
2010
445
Time trend and geographic distribution of treated patients with congenital hypothyroidism relative to the number of available endocrinologists in Japan. ( 20227725 )
2010
446
Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members. ( 19916865 )
2009
447
Congenital hypothyroidism alters formalin-induced pain response in neonatal rats. ( 18992317 )
2009
448
Fetal heart rate tracing patterns associated with congenital hypothyroidism. ( 19467638 )
2009
449
Neonatal screening for congenital hypothyroidism and phenylketonuria in China. ( 19718537 )
2009
450
Audit of initial management of congenital hypothyroidism in the United Kingdom--comparison of UK practice with European and UK guidelines. ( 20101887 )
2009
451
Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. ( 18698134 )
2009
452
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. ( 19509106 )
2009
453
Intractable neonatal seizures: an unusual presentation of congenital hypothyroidism. ( 20020585 )
2009
454
Congenital hypothyroidism simulating acromegaly - a diagnostic pitfall. ( 19855353 )
2009
455
The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism. ( 19490661 )
2009
456
[Evaluation of the Neonatal Screening Program for congenital hypothyroidism and phenylketonuria in the State of Mato Grosso, Brazil]. ( 19649383 )
2009
457
Permanent and transient congenital hypothyroidism in Isfahan-Iran. ( 19349525 )
2009
458
Patient information page from the hormone foundation. Congenital hypothyroidism. ( 19425218 )
2009
459
Pitfalls in screening programs for congenital hypothyroidism in premature newborns. ( 19085681 )
2009
460
A strategy to avoid missed cases in a Brazilian neonatal TSH screening program for congenital hypothyroidism. ( 19618663 )
2009
461
Congenital hypothyroidism--a delayed diagnosis in a neonate. A case report. ( 19764677 )
2009
462
Routine renal ultrasounds in children with congenital hypothyroidism: a premature conclusion? ( 19732600 )
2009
463
Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. ( 18823909 )
2009
464
Beckwith-Wiedemann syndrome associated with congenital hypothyroidism in a preterm neonate: a case report and literature review. ( 19474816 )
2009
465
Repeatability of heart rate variability in congenital hypothyroidism as analysed by detrended fluctuation analysis. ( 19706959 )
2009
466
Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. ( 18668261 )
2009
467
Morphological abnormalities in children with thyroidal congenital hypothyroidism. ( 19367618 )
2009
468
Congenital hypothyroidism in Calabria: epidemiological and clinical aspects. ( 20061667 )
2009
469
Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil. ( 19198739 )
2009
470
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). ( 19486019 )
2009
471
A novel presentation of diffuse lung disease caused by congenital hypothyroidism. ( 19773006 )
2009
472
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. ( 19158199 )
2009
473
Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child. ( 19492583 )
2009
474
Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. ( 19534617 )
2009
475
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. ( 20020575 )
2009
476
High versus low dose of initial thyroid hormone replacement for congenital hypothyroidism. ( 19160309 )
2009
477
Monozygotic twins are generally discordant for congenital hypothyroidism from thyroid dysgenesis. ( 19844119 )
2009
478
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. ( 20101889 )
2009
479
Follow-up study of behavioral development and parenting stress profiles in children with congenital hypothyroidism. ( 19858037 )
2009
480
Screening newborns for congenital hypothyroidism. ( 19391458 )
2009
481
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. ( 19556108 )
2009
482
Neonatal sludge: a finding of congenital hypothyroidism. ( 21274296 )
2009
483
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism. ( 21499658 )
2009
484
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. ( 18787501 )
2009
485
Kidney growth in children with congenital hypothyroidism. ( 18815815 )
2009
486
Diagnostic spectrum of congenital hypothyroidism in Turkish children. ( 19674358 )
2009
487
A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. ( 21274302 )
2009
488
Quality of life of young adults with congenital hypothyroidism. ( 19371292 )
2009
489
Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland. ( 19789206 )
2009
490
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. ( 18042646 )
2008
491
Reply on: Congenital hypothyroidism: look at the whole patient! Horm Res 2007;68:276-277. ( 18493151 )
2008
492
Clinical description of infants with congenital hypothyroidism and iodide organification defects. ( 18772598 )
2008
493
Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism. ( 18543337 )
2008
494
Cord blood thyroxine and thyroid stimulating hormone screening for congenital hypothyroidism: how useful are they? ( 18540251 )
2008
495
Universal newborn screening for congenital hypothyroidism. ( 18451459 )
2008
496
Should the levothyroxine starting dose be tailored to disease severity in neonates with congenital hypothyroidism? ( 18825139 )
2008
497
Congenital hypothyroidism: a forgotten clinical diagnosis? ( 18780595 )
2008
498
Propylthiouracil-induced congenital hypothyroidism upregulates vimentin phosphorylation and depletes antioxidant defenses in immature rat testis. ( 18316471 )
2008
499
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. ( 18029453 )
2008
500
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. ( 18631008 )
2008
501
Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome. ( 18824871 )
2008
502
Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndrome. ( 18250537 )
2008
503
Birth prevalence of congenital hypothyroidism in Mexico. ( 18782254 )
2008
504
Long-term cardiovascular effects of levothyroxine therapy in young adults with congenital hypothyroidism. ( 18445676 )
2008
505
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. ( 17876604 )
2008
506
Implication of the endocannabinoid system in the locomotor hyperactivity associated with congenital hypothyroidism. ( 18218697 )
2008
507
Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. ( 18456702 )
2008
508
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene. ( 19189706 )
2008
509
Repeat testing for congenital hypothyroidism in preterm infants is unnecessary with an appropriate thyroid stimulating hormone threshold. ( 18252816 )
2008
510
Delayed closure of the ductus arteriosus in term newborns with congenital hypothyroidism: effect of L-thyroxine therapy. ( 17876651 )
2008
511
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. ( 18765513 )
2008
512
Neuro-developmental deficits in early-treated congenital hypothyroidism. ( 19904446 )
2008
513
Indicators of the screening program for congenital hypothyroidism in alexandria. ( 19302782 )
2008
514
Persistently raised thyroid stimulating hormone in adequately treated congenital hypothyroidism on long-term follow-up. ( 18540252 )
2008
515
Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. ( 18460566 )
2008
516
Transient congenital hypothyroidism in an iodine-replete area is not related to parental consanguinity, mode of delivery, goitrogens, iodine exposure, or thyrotropin receptor autoantibodies. ( 18296902 )
2008
517
Delayed closure of ductus arteriosus in term newborns with congenital hypothyroidism: effect of L-thyroxine therapy. ( 17676369 )
2008
518
Detection of circulating autoantibodies against thyroid hormones in an infant with permanent congenital hypothyroidism and her twin with transient congenital hypothyroidism: possible contribution of thyroid hormone autoantibodies to neonatal and infant hypothyroidism. ( 19209623 )
2008
519
Incidence of iodine deficiency in Turkish patients with congenital hypothyroidism. ( 18533935 )
2008
520
Audit of newborn screening programme for congenital hypothyroidism. ( 19385494 )
2008
521
Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. ( 18445672 )
2008
522
A novel therapeutic paradigm to treat congenital hypothyroidism. ( 18598275 )
2008
523
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. ( 18379122 )
2008
524
The implementation of revised guidelines and the performance of a screening programme for congenital hypothyroidism. ( 18416947 )
2008
525
Methodological and organizational aspects of newborn screening for congenital hypothyroidism in Macedonia. ( 18709003 )
2008
526
Intellectual outcome, motor skills and BMI of children with congenital hypothyroidism: a population-based study. ( 18331367 )
2008
527
Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme. ( 19904471 )
2008
528
Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics. ( 24790365 )
2008
529
Screening for congenital hypothyroidism: US Preventive Services Task Force reaffirmation recommendation. ( 18332410 )
2008
530
Resetting the detection level of cord blood thyroid stimulating hormone (TSH) for the diagnosis of congenital hypothyroidism. ( 17878179 )
2008
531
A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G&amp;gt;T intronic thyroglobulin mutation. ( 19169491 )
2008
532
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. ( 17980011 )
2008
533
Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey. ( 18547957 )
2008
534
Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening. ( 19904469 )
2008
535
Increase in congenital hypothyroidism due to inadequate iodine nutrition? ( 18093858 )
2008
536
Congenital hypothyroidism. ( 18536892 )
2008
537
Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. ( 18845185 )
2008
538
A Japanese patient of congenital hypothyroidism with cerebellar atrophy. ( 18000345 )
2007
539
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. ( 17440044 )
2007
540
Thyroxine replacement in an animal model of congenital hypothyroidism. ( 17445845 )
2007
541
Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan. ( 17687829 )
2007
542
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. ( 17381485 )
2007
543
Seasonality in the incidence of congenital hypothyroidism in Japan: gender-specific patterns and correlation with temperature. ( 17956160 )
2007
544
Mental development of infants with congenital hypothyroidism: a longitudinal study. ( 17164510 )
2007
545
Recombinant thyrotropin in the diagnosis of congenital hypothyroidism. ( 17284628 )
2007
546
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. ( 17374849 )
2007
547
High risk of congenital hypothyroidism in multiple pregnancies. ( 17488789 )
2007
548
Early assessment of hypothalamic-pituitary-gonadal function in patients with congenital hypothyroidism of central origin. ( 17047014 )
2007
549
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. ( 17218725 )
2007
550
Male congenital hypothyroid Pax8-/- mice are infertile despite adequate treatment with thyroid hormone. ( 17210747 )
2007
551
Obesity and attenuated adiposity rebound in children with congenital hypothyroidism. Normalization of BMI values in adolescents. ( 17611907 )
2007
552
Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan. ( 17587265 )
2007
553
Increase in congenital hypothyroidism in New York State and in the United States. ( 17512233 )
2007
554
Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism. ( 17307219 )
2007
555
Is the current threshold level for screening for congenital hypothyroidism too high? An audit of the clinical evaluation, confirmatory diagnostic tests and treatment of infants with increased blood spot thyroid-stimulating hormone concentrations identified on newborn blood spot screening in Wales. ( 17846034 )
2007
556
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in QuAcbec. ( 17504897 )
2007
557
Prevalence of minor musculoskeletal anomalies in children with congenital hypothyroidism. ( 17587855 )
2007
558
Young adults with severe congenital hypothyroidism: cognitive event related potentials (ERPs) and the significance of an early start of thyroxine treatment. ( 17257370 )
2007
559
Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age. ( 17164300 )
2007
560
Longitudinal assessment of levo-thyroxine therapy for congenital hypothyroidism: relationship with aetiology, bone maturation and biochemical features. ( 17337903 )
2007
561
Update on the management of congenital hypothyroidism. ( 18174723 )
2007
562
Effects of levothyroxine therapy on left and right ventricular function in neonates with congenital hypothyroidism: a tissue Doppler echocardiography study. ( 17962990 )
2007
563
PHACES syndrome with congenital hypothyroidism. ( 17351309 )
2007
564
Increased incidence of congenital hypothyroidism due to iodine deficiency. ( 17250510 )
2007
565
Congenital hypothyroidism: look at the whole patient! Editorial comment on the paper by El Kholy et al. in this issue. ( 17587856 )
2007
566
What is your diagnosis? Congenital hypothyroidism. ( 17199487 )
2007
567
How should we be treating children with congenital hypothyroidism? ( 17642417 )
2007
568
Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy. ( 17082261 )
2007
569
Incidence of congenital hypothyroidism and congenital adrenal hyperplasia at Flushing Hospital Medical Center. ( 17616041 )
2007
570
Presumed levothyroxine-induced pseudotumor cerebri in a pediatric patient being treated for congenital hypothyroidism. ( 19668534 )
2007
571
TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. ( 17318017 )
2007
572
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. ( 17532758 )
2007
573
Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy. ( 17318546 )
2007
574
Seasonal variation in the incidence of congenital hypothyroidism in Isfahan, Iran. ( 17914523 )
2007
575
[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism]. ( 17953807 )
2007
576
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. ( 17437516 )
2007
577
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center. ( 18294054 )
2007
578
[Congenital hypothyroidism]. ( 17072233 )
2006
579
Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening. ( 16303842 )
2006
580
Thyroid hormone in hypopituitarism, Graves' disease, congenital hypothyroidism, and maternal thyroid disease during pregnancy. ( 16707271 )
2006
581
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. ( 16684826 )
2006
582
Word and face recognition in children with congenital hypothyroidism: an event-related potential study. ( 16624781 )
2006
583
Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. ( 16763387 )
2006
584
Update of newborn screening and therapy for congenital hypothyroidism. ( 16740880 )
2006
585
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. ( 16995592 )
2006
586
Delay in screening premature infants for congenital hypothyroidism. ( 17056851 )
2006
587
The effect of life-long thyroxine treatment and physical activity on bone mineral density in young adult women with congenital hypothyroidism. ( 17252693 )
2006
588
Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin. ( 16889491 )
2006
589
Congenital hypothyroidism: from paracelsus to molecular diagnosis. ( 16730255 )
2006
590
Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. ( 16864597 )
2006
591
Dopamine infusion: a possible cause of undiagnosed congenital hypothyroidism in preterm infants. ( 16575344 )
2006
592
Newborn screening for congenital hypothyroidism. ( 17220056 )
2006
593
Congenital hypothyroidism in one of monozygotic twins: comparison of their long-term psychosomatic development. ( 16648804 )
2006
594
Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism. ( 17551472 )
2006
595
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. ( 16715098 )
2006
596
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. ( 16882747 )
2006
597
Goitrous congenital hypothyroidism in a twin pregnancy causing respiratory obstruction at birth: implications for management. ( 17062458 )
2006
598
Congenital hypothyroidism and the second newborn metabolic screening in Colorado, USA. ( 16509526 )
2006
599
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. ( 16787990 )
2006
600
[Neuropsychiatric outcome in patients with congenital hypothyroidism precautiously treated: Risk factors analysis in a group of patients from Tuscany]. ( 16832334 )
2006
601
Congenital hypothyroidism in Peters plus syndrome. ( 16754209 )
2006
602
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. ( 16507635 )
2006
603
[Tc]-99m thyroid scintigraphy in congenital hypothyroidism screening program. ( 16943215 )
2006
604
An occasional side effect in the treatment of congenital hypothyroidism: hair loss. ( 16552543 )
2006
605
Neonatal hypertrichosis in an infant of a diabetic mother with congenital hypothyroidism. ( 16570082 )
2006
606
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. ( 17199441 )
2006
607
Congenital hypothyroidism (cretinism) in neuroD2-deficient mice. ( 16705180 )
2006
608
Effects of early high-dose levothyroxine treatment on auditory brain event-related potentials at school entry in children with congenital hypothyroidism. ( 16912511 )
2006
609
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. ( 17121535 )
2006
610
Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. ( 16595645 )
2006
611
Patients with congenital hypothyroidism demonstrate different altered expression of plasma fibrinogen and haptoglobin polypeptide chains. ( 16412408 )
2006
612
Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism. ( 15728201 )
2005
613
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation. ( 16117192 )
2005
614
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. ( 15745925 )
2005
615
Undetectable serum IgA and low IgM concentration in children with congenital hypothyroidism. ( 15925836 )
2005
616
Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. ( 15807875 )
2005
617
Screening for congenital hypothyroidism: the value of retesting after four weeks in neonates with low and very low birth weight. ( 16417691 )
2005
618
Umbilical cord blood TSH levels in term neonates: a screening tool for congenital hypothyroidism. ( 16269841 )
2005
619
Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program. ( 15995048 )
2005
620
Seasonality in the incidence of congenital hypothyroidism in Japan. ( 16014151 )
2005
621
Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8-12 years. ( 16318620 )
2005
622
Children with congenital hypothyroidism and their siblings: do they really differ? ( 15629966 )
2005
623
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. ( 16189712 )
2005
624
Clinical presentation of primary congenital hypothyroidism: experience before mass screening. ( 16351594 )
2005
625
Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. ( 16356429 )
2005
626
Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). ( 16322381 )
2005
627
Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report. ( 15813611 )
2005
628
Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4 dose and time to reach target T4 and TSH. ( 16356430 )
2005
629
A mouse model demonstrates a multigenic origin of congenital hypothyroidism. ( 16150900 )
2005
630
High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990-2000. ( 15921174 )
2005
631
Treatment and follow-up of children with transient congenital hypothyroidism. ( 16358380 )
2005
632
Congenital hypothyroidism: no adverse effects of high dose thyroxine treatment on adult memory, attention, and behaviour. ( 15665163 )
2005
633
A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism. ( 15844790 )
2005
634
Neonatal thyrotropin as measured in a congenital hypothyroidism screening program: influence of the mode of delivery. ( 16144951 )
2005
635
Efficacy of congenital hypothyroidism neonatal screening in preterms less than 32 weeks of gestational age: more evidence. ( 15844471 )
2005
636
Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. ( 16398841 )
2005
637
Congenital hypothyroidism. ( 15665157 )
2005
638
Rate of recalls in congenital hypothyroidism based upon a regional survey in Isfahan, Iran, using serum T4 and TSH analyses: comparison of two different recall methods. ( 16269871 )
2005
639
Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism. ( 15827096 )
2005
640
Neonatal screening for congenital hypothyroidism in West Black Sea area, Turkey. ( 15857333 )
2005
641
Congenital hypothyroidism alters the phosphorylation of ERK1/2 and p38MAPK in the hippocampus of neonatal rats. ( 15617763 )
2005
642
[Left ventricular function in congenital hypothyroidism neonates before and after thyroxine substitution therapy]. ( 15949334 )
2005
643
[Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. ( 15719039 )
2005
644
Neonatal detection of congenital hypothyroidism of central origin. ( 15784706 )
2005
645
Genetics of congenital hypothyroidism. ( 15863666 )
2005
646
Next generation newborn screening for congenital hypothyroidism? ( 15917488 )
2005
647
Precocious puberty with congenital hypothyroidism. ( 15990731 )
2005
648
High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. ( 15753677 )
2005
649
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. ( 15611820 )
2004
650
[Influence of congenital hypothyroidism on left ventricular function of neonates]. ( 15324568 )
2004
651
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. ( 14725684 )
2004
652
Expression of pituitary hormones in the Pax8-/- mouse model of congenital hypothyroidism. ( 14617574 )
2004
653
Congenital hypothyroidism caused by a unique thyroid peroxidase allele containing two mutations, C1708T and C2737T. ( 15055360 )
2004
654
Quantitative computed tomography measurements of bone mineral density in prepubertal children with congenital hypothyroidism treated with L-thyroxine. ( 15270407 )
2004
655
In search of the optimal therapy for congenital hypothyroidism. ( 15192611 )
2004
656
Primary congenital hypothyroidism: clinical characteristics and etiological study. ( 15279337 )
2004
657
Evaluation of experimental methods to induce congenital hypothyroidism in guinea pigs for use in the study of congenital hypothyroidism in horses. ( 15478773 )
2004
658
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. ( 15356023 )
2004
659
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. ( 14646397 )
2004
660
Prevalence of congenital hypothyroidism in Isfahan, Iran: results of a survey on 20,000 neonates. ( 15237248 )
2004
661
Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidism. ( 15367200 )
2004
662
Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. ( 15473876 )
2004
663
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. ( 15329322 )
2004
664
Ultrasonographic assessment of the ectopic thyroid tissue in children with congenital hypothyroidism. ( 14586525 )
2004
665
Gene symbol: TSH B. Disease: congenital hypothyroidism. ( 15300985 )
2004
666
The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. ( 15574601 )
2004
667
An investigation of impulsivity in children with early-treated congenital hypothyroidism. ( 15456686 )
2004
668
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. ( 15301052 )
2004
669
Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism. ( 14974635 )
2004
670
Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism. ( 15499948 )
2004
671
Predictors of intellectual outcome in a cohort of Brazilian children with congenital hypothyroidism. ( 14725688 )
2004
672
Effect of long-term L-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism. ( 15588234 )
2004
673
Head circumference and linear growth during the first 3 years in treated congenital hypothyroidism in relation to aetiology and initial biochemical severity. ( 15212659 )
2004
674
Bilateral anotia with congenital hypothyroidism. ( 15107526 )
2004
675
Earlier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: which as the more important factor for IQ at 7 years? ( 15115051 )
2004
676
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. ( 15289765 )
2004
677
Developmental hormonal profiles in rdw rats with congenital hypothyroidism accompanying increased testicular size and infertility in adulthood. ( 15647620 )
2004
678
Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. ( 15192621 )
2004
679
Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. ( 15012609 )
2004
680
Definitive diagnosis in children with congenital hypothyroidism. ( 15127002 )
2004
681
The use of L-T4 as liquid solution improves the practicability and individualized dosage in newborns and infants with congenital hypothyroidism. ( 15301044 )
2004
682
Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. ( 15320969 )
2004
683
Soy formula complicates management of congenital hypothyroidism. ( 14709499 )
2004
684
[Molecular-genetic aspects of congenital hypothyroidism]. ( 15858240 )
2004
685
Psychological adjustment of children with congenital hypothyroidism and phenylketonuria as related to parental psychological adjustment. ( 15252232 )
2004
686
Molecular genetic defects in congenital hypothyroidism. ( 15554885 )
2004
687
Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism. ( 15171721 )
2004
688
Congenital hypothyroidism in a cat. ( 15025157 )
2004
689
A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. ( 15506679 )
2004
690
Multivariate analysis on factors affecting suppression of thyroid-stimulating hormone in treated congenital hypothyroidism. ( 15499223 )
2004
691
Newborn screening for congenital hypothyroidism in early discharged infants. ( 15906727 )
2003
692
Accuracy of ultrasonography to establish the diagnosis and aetiology of permanent primary congenital hypothyroidism. ( 12919160 )
2003
693
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? ( 12966531 )
2003
694
Congenital hypothyroidism clinical aspects and late consequences. ( 16444157 )
2003
695
Behavioural disorders in adolescents with early-treated congenital hypothyroidism. ( 14703898 )
2003
696
Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. ( 14657824 )
2003
697
Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. ( 12786749 )
2003
698
Transient congenital hypothyroidism due to maternal autoimmune thyroid disease. ( 17003010 )
2003
699
Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults. ( 14523187 )
2003
700
Iodine deficiency disorders incidence in neonates based on the experience with mass screening for congenital hypothyroidism in southeast Poland in the years 1985-2000. ( 12762638 )
2003
701
Newborn screening for congenital hypothyroidism: the Texas experience. ( 14650804 )
2003
702
Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns. ( 12727946 )
2003
703
Suppression of TSH in congenital hypothyroidism is significantly related to serum levels and dosage of thyroxine. ( 12589112 )
2003
704
Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement. ( 12864801 )
2003
705
Undetectable levels of tumor necrosis factor-alpha, nitric oxide and inadequate expression of inducible nitric oxide synthase in congenital hypothyroidism. ( 12799216 )
2003
706
Newborn screening for congenital hypothyroidism in Khon Kaen University Hospital, the first three years, a preliminary report. ( 14650705 )
2003
707
Congenital hypothyroidism in Iran. ( 14510082 )
2003
708
Screening for congenital hypothyroidism--a new era in Bangladesh. ( 15906726 )
2003
709
Congenital hypothyroidism and iodine status in Turkey: a comparison between the data obtained from an epidemiological study in school-aged children and neonatal screening for congenital hypothyroidism in Turkey. ( 16444153 )
2003
710
Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine? ( 12728088 )
2003
711
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. ( 12656668 )
2003
712
The utility of FT4 serum in newborns at risk for congenital hypothyroidism (CH). ( 15906723 )
2003
713
Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables. ( 14651787 )
2003
714
Werdnig-Hoffmann disease with congenital hypothyroidism. ( 14738578 )
2003
715
Color Doppler ultrasonography: diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. ( 14602741 )
2003
716
Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening. ( 12856981 )
2003
717
In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first Year of life irrespective of other variables related to treatment. ( 12824859 )
2003
718
Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. ( 14671180 )
2003
719
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. ( 14510914 )
2003
720
A case of Turner syndrome with congenital hypothyroidism untreated until age 38 years. ( 12566737 )
2003
721
Primary congenital hypothyroidism: defects in iodine pathways. ( 14514339 )
2003
722
Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. ( 12705373 )
2003
723
Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression. ( 14671405 )
2003
724
A retrospective hospital-based study on congenital hypothyroidism in the Sultanate of Oman. ( 12929888 )
2003
725
Congenital hypothyroidism and early severe hyperbilirubinemia. ( 12800733 )
2003
726
Primary congenital hypothyroidism, newborn thyroid function, and environmental perchlorate exposure among residents of a Southern California community. ( 14534454 )
2003
727
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. ( 12766862 )
2003
728
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. ( 12165566 )
2002
729
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism. ( 11935320 )
2002
730
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. ( 11916616 )
2002
731
[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)]. ( 11857915 )
2002
732
Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review. ( 11980555 )
2002
733
Screening for congenital hypothyroidism in the Islamic Republic of Iran: strategies, obstacles and future perspectives. ( 15603028 )
2002
734
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach. ( 12490071 )
2002
735
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. ( 12110737 )
2002
736
Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism. ( 12438673 )
2002
737
Congenital hypothyroidism: an analysis of persisting deficits and associated factors. ( 12759831 )
2002
738
Dynamics of the plasma concentrations of TSH, FT4 and T3 following thyroxine supplementation in congenital hypothyroidism. ( 12354136 )
2002
739
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. ( 11743520 )
2001
740
Where and what visuospatial processing in adolescents with congenital hypothyroidism. ( 11459107 )
2001
741
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. ( 11502839 )
2001
742
Precocious puberty in a girl with congenital hypothyroidism receiving continuous L-thyroxine-replacement therapy. ( 11208009 )
2001
743
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. ( 11238503 )
2001
744
Scintigraphic evaluation of primary congenital hypothyroidism: results of the Greek screening program. ( 11357505 )
2001
745
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. ( 11415848 )
2001
746
Selenium decreases thyroglobulin concentrations but does not affect the increased thyroxine-to-triiodothyronine ratio in children with congenital hypothyroidism. ( 11238502 )
2001
747
A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus. ( 11847467 )
2001
748
A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene. ( 11716047 )
2001
749
Vitamin D receptor genotype and bone mineral density in Caucasian children with congenital hypothyroidism. ( 10905383 )
2000
750
Recent advances in understanding the molecular basis of primary congenital hypothyroidism. ( 10637573 )
2000
751
The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism. ( 10946871 )
2000
752
Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia. ( 12862157 )
2000
753
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. ( 10720030 )
2000
754
Congenital Hypothyroidism ( 25905235 )
2000
755
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). ( 11061528 )
2000
756
Longitudinal assessment of L-T4 therapy for congenital hypothyroidism: differences between athyreosis vs ectopia and delayed vs normal bone age. ( 10689639 )
2000
757
Congenital anomalies associated with congenital hypothyroidism. ( 10214503 )
1999
758
Neonatal screening for congenital hypothyroidism in Mexico: experience, obstacles, and strategies. ( 10444724 )
1999
759
Congenital hypothyroidism: etiologies, diagnosis, and management. ( 10447022 )
1999
760
Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. ( 10640901 )
1999
761
Neonatal screening for congenital hypothyroidism and phenylketonuria at Siriraj Hospital, Mahidol University, Bangkok, Thailand--a pilot study. ( 11400774 )
1999
762
Effect of primary congenital hypothyroidism upon expression of genes mediating murine brain glucose uptake. ( 10231871 )
1999
763
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? ( 9917489 )
1999
764
Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. ( 10377248 )
1999
765
Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia. ( 10411113 )
1999
766
Familial occurrence of congenital hypothyroidism due to lingual thyroid gland. ( 10361938 )
1999
767
Pertechnetate scintigraphy in primary congenital hypothyroidism. ( 10319753 )
1999
768
Serum lipoproteins and apolipoprotein E in infants with congenital hypothyroidism. ( 10365572 )
1999
769
Monitoring the prevalence of congenital hypothyroidism for 20 years near the Savannah River site. ( 10666993 )
1999
770
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? ( 10610498 )
1999
771
Thyroxine inversely regulates serum intermediate density lipoprotein levels in children with congenital hypothyroidism. ( 10365575 )
1999
772
Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness. ( 9588495 )
1998
773
[Results of screening of congenital hypothyroidism and iodine excess in neonatal age]. ( 10052171 )
1998
774
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. ( 9590296 )
1998
775
[Re-evaluation of the diagnosis in congenital hypothyroidism]. ( 10052172 )
1998
776
Screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency and of its control. ( 9920376 )
1998
777
[123I-scintigraphy and perchlorate depletion test in the diagnosis of congenital hypothyroidism]. ( 9467163 )
1998
778
Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. ( 9657379 )
1998
779
Etiologic study of primary congenital hypothyroidism. ( 9737121 )
1998
780
Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene. ( 9806481 )
1998
781
Low growth hormone-binding protein in infants with congenital hypothyroidism. ( 9768678 )
1998
782
Cleidocranial dysplasia: a rare case associated with congenital hypothyroidism and severe neonatal hyperbilirubinemia. ( 9519691 )
1998
783
Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3' splice site. ( 9486973 )
1998
784
Collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature. ( 9777579 )
1998
785
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. ( 9048917 )
1997
786
Congenital hypothyroidism and concomitant anomalies. ( 9364356 )
1997
787
Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter. ( 9171822 )
1997
788
Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. ( 9226207 )
1997
789
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism. ( 9354849 )
1997
790
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. ( 9329388 )
1997
791
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. ( 9185526 )
1997
792
Transient congenital hypothyroidism and hyperthyrotropinemia: normal thyroid function and physical development at the ages of 6-14 years. ( 8636368 )
1996
793
The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis. ( 8981017 )
1996
794
Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment. ( 8550756 )
1996
795
Fuel utilization by early newborn brain is preserved under congenital hypothyroidism in the rat. ( 8865277 )
1996
796
Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. ( 8981932 )
1996
797
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. ( 8964831 )
1996
798
Effect of congenital hypothyroidism on cell density in the ganglion cell layer of the rat retina. ( 9033820 )
1996
799
Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. ( 8772590 )
1996
800
Childhood IQ measurements in infants with transient congenital hypothyroidism. ( 7586623 )
1995
801
RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism. ( 7539519 )
1995
802
[Congenital hypothyroidism in Iceland 1979-1993.]. ( 20065486 )
1995
803
Prevalence of permanent primary congenital hypothyroidism in Taiwan. ( 7613262 )
1995
804
Outcome in three siblings with antibody-mediated transient congenital hypothyroidism. ( 7636655 )
1995
805
The importance of thyroglobulin levels in monitoring the treatment of congenital hypothyroidism. ( 7649523 )
1995
806
Bone mineral metabolism and thyroid replacement therapy in congenital hypothyroid infants and young children. ( 7560809 )
1995
807
Intellectual development at 10 years in early treated congenital hypothyroidism. ( 7526803 )
1994
808
A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. ( 8027236 )
1994
809
Role of congenital hypothyroidism in hearing loss in children. ( 8120719 )
1994
810
Congenital hypothyroidism: etiology and pathogenesis. ( 7879996 )
1994
811
[Alpha fetoprotein in congenital hypothyroidism before and during treatment]. ( 7531094 )
1994
812
Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ. ( 8013940 )
1994
813
The screening programme for congenital hypothyroidism in Greece: evidence of iodine deficiency in some areas of the country. ( 7919611 )