MCID: CNG006
MIFTS: 62

Congenital Hypothyroidism

Categories: Rare diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Congenital Hypothyroidism

Summaries for Congenital Hypothyroidism

NIH Rare Diseases : 49 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. Last updated: 2/19/2016

MalaCards based summary : Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism, congenital, nongoitrous, 2 and pendred syndrome, and has symptoms including hypogonadism, macroglossia and oral cleft. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Allograft rejection. 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 endocrine/exocrine gland and growth/size/body region

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

Genetics Home Reference : 24 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.

Wikipedia : 72 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 197, show less)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 2 32.3 FOXE1 NKX2-1 PAX8 TG TSHR
2 pendred syndrome 31.8 DUOX2 PAX8 TG TPO
3 neonatal hypothyroidism 31.3 PAX8 SLC5A5 TG TPO TSHR
4 thyroid ectopia 31.0 NKX2-5 PAX8
5 thyroiditis 30.3 TG TPO TSHB TSHR
6 familial thyroid dyshormonogenesis 30.1 DUOX2 IYD SLC5A5 TG TPO
7 myxedema 30.0 TG TPO TSHR
8 hyperthyroxinemia 29.8 TPO TSHR
9 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 29.8 FOXE1 TG TPO
10 hyperthyroidism 29.7 TG TPO TSHR
11 graves' disease 29.6 TG TPO TSHR
12 hypothyroidism, congenital, nongoitrous, 4 29.6 TG TPO TSHB
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.5 TG TPO TSHR
14 athyreosis 29.4 FOXE1 NKX2-1 NKX2-5 PAX8 TG TSHR
15 multinodular goiter 29.0 NKX2-1 PAX8 TG TPO TSHR
16 papillary carcinoma 29.0 NKX2-1 PAX8 TG TPO TSHR
17 hashimoto thyroiditis 28.7 TG TPO TSHB TSHR
18 goiter 28.5 DUOX2 IYD NKX2-1 PAX8 SLC5A5 TG
19 hypothyroidism 27.3 DUOX2 FOXE1 GLIS3 IYD NKX2-1 NKX2-5
20 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.4
21 diabetes mellitus, neonatal, with congenital hypothyroidism 12.3
22 central congenital hypothyroidism 12.3
23 idiopathic congenital hypothyroidism 12.0
24 cretinism athyreotic 11.9
25 genetic transient congenital hypothyroidism 11.9
26 congenital hypothyroidism due to maternal intake of antithyroid drugs 11.9
27 congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies 11.9
28 chediak-higashi syndrome 11.6
29 thyroid dyshormonogenesis 1 11.6
30 thyroid dyshormonogenesis 2a 11.5
31 blood group, chido/rodgers system 11.4
32 fetal iodine deficiency disorder 11.4
33 central hypoventilation syndrome, congenital 11.4
34 hypothyroidism, central, and testicular enlargement 11.3
35 thyroid dyshormonogenesis 6 11.2
36 hypothyroidism, congenital, nongoitrous, 1 11.2
37 bamforth syndrome 11.1
38 cluster headache, familial 11.0
39 macroglossia 11.0
40 undifferentiated pleomorphic sarcoma 11.0
41 cyclic neutropenia 10.9
42 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
43 cluster headache 10.9
44 thyroid dyshormonogenesis 3 10.9
45 thyroid dyshormonogenesis 4 10.9
46 thyroid dyshormonogenesis 5 10.9
47 thyroid-stimulating hormone level quantitative trait locus 1 10.8
48 peripheral resistance to thyroid hormones 10.8
49 subacute lymphocytic thyroiditis 10.4 TG TPO
50 ovarian germ cell teratoma 10.4 NKX2-1 TG
51 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.4 TG TPO
52 ovarian germ cell cancer 10.4 NKX2-1 TG
53 water-clear cell adenoma 10.4 PAX8 TG
54 malignant teratoma 10.4 NKX2-1 TG
55 malignant struma ovarii 10.4 NKX2-1 TG
56 dyshormonogenic goiter 10.3 DUOX2 TG
57 plummer's disease 10.3 TG TPO
58 benign struma ovarii 10.3 TG TSHR
59 premature menopause 10.3 TG TPO
60 thyroid cancer, anaplastic 10.3 NKX2-1 PAX8 TG
61 neonatal thyrotoxicosis 10.3 PAX8 TSHR
62 pernicious anemia 10.3 TG TPO
63 rete testis neoplasm 10.2 NKX2-1 PAX8
64 aging 10.2
65 struma ovarii 10.2 NKX2-1 TG TSHR
66 ovarian cystic teratoma 10.2 NKX2-1 TG
67 graves disease 1 10.2 TG TPO TSHR
68 nontoxic goiter 10.2 TG TPO TSHR
69 subacute thyroiditis 10.2 TG TPO TSHR
70 papillary thyroid microcarcinoma 10.2 NKX2-1 TG TSHR
71 toxic diffuse goiter 10.2 TG TPO TSHR
72 nodular goiter 10.2 TG TPO TSHR
73 autoimmune disease of endocrine system 10.1 TG TPO TSHR
74 hypersensitivity reaction disease 10.1 TG TPO TSHR
75 endocrine gland cancer 10.1 PAX8 SLC5A5 TG
76 acute thyroiditis 10.1 FOXE1 TG
77 phenylketonuria 10.0
78 exophthalmos 10.0 TG TSHR
79 cleft palate, isolated 9.9
80 lipoid congenital adrenal hyperplasia 9.9
81 thyrotropin-releasing hormone deficiency 9.9
82 thyroid hormone metabolism, abnormal 9.9
83 hypothyroidism, congenital, nongoitrous, 3 9.9
84 muscular pseudohypertrophy-hypothyroidism syndrome 9.9
85 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.9
86 resistance to thyrotropin-releasing hormone syndrome 9.9
87 down syndrome 9.8
88 pseudohypoparathyroidism 9.8
89 galactosemia 9.8
90 body mass index quantitative trait locus 11 9.8
91 body mass index quantitative trait locus 9 9.8
92 body mass index quantitative trait locus 8 9.8
93 body mass index quantitative trait locus 4 9.8
94 body mass index quantitative trait locus 10 9.8
95 body mass index quantitative trait locus 7 9.8
96 body mass index quantitative trait locus 12 9.8
97 body mass index quantitative trait locus 14 9.8
98 body mass index quantitative trait locus 18 9.8
99 infertility 9.8
100 dwarfism 9.8
101 phace syndrome 9.8
102 follicular adenoma 9.8 NKX2-1 PAX8 TG TPO TSHR
103 thyroid cancer, nonmedullary, 2 9.8 NKX2-1 PAX8 TG TPO TSHR
104 adrenal rest tumor 9.7 DUOX1 DUOX2
105 fibrosis of extraocular muscles, congenital, 1 9.7
106 williams-beuren syndrome 9.7
107 maple syrup urine disease 9.7
108 biotinidase deficiency 9.7
109 body mass index quantitative trait locus 1 9.7
110 chromosome 16p13.3 deletion syndrome, proximal 9.7
111 hydrops fetalis, nonimmune, and/or atrial septal defect 9.7
112 diabetes mellitus 9.7
113 hypogonadotropic hypogonadism 9.7
114 neonatal diabetes mellitus 9.7
115 bilirubin metabolic disorder 9.7
116 hypertrichosis 9.7
117 homocystinuria 9.7
118 hydrops fetalis 9.7
119 precocious puberty 9.7
120 endotheliitis 9.7
121 endemic goiter 9.6 TG TPO TSHB TSHR
122 cleidocranial dysplasia 9.5
123 beckwith-wiedemann syndrome 9.5
124 epicanthus 9.5
125 hirschsprung disease 1 9.5
126 attention deficit-hyperactivity disorder 9.5
127 prader-willi syndrome 9.5
128 teeth present at birth 9.5
129 tracheoesophageal fistula with or without esophageal atresia 9.5
130 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.5
131 cerebellar hypoplasia 9.5
132 cutis marmorata telangiectatica congenita 9.5
133 cystic fibrosis 9.5
134 achalasia-addisonianism-alacrima syndrome 9.5
135 intracranial hypertension, idiopathic 9.5
136 spinal muscular atrophy, type i 9.5
137 primrose syndrome 9.5
138 peters-plus syndrome 9.5
139 pierre robin syndrome 9.5
140 polycystic kidney disease 4 with or without hepatic disease 9.5
141 ataxia and polyneuropathy, adult-onset 9.5
142 hirschsprung disease 2 9.5
143 choanal atresia, posterior 9.5
144 episodic pain syndrome, familial, 1 9.5
145 alacrima, achalasia, and mental retardation syndrome 9.5
146 alpha-fetoprotein deficiency 9.5
147 hyperthyroxinemia, familial dysalbuminemic 9.5
148 chorea, childhood-onset, with psychomotor retardation 9.5
149 polycystic kidney disease 5 9.5
150 hepatitis 9.5
151 ichthyosis lamellar 1 9.5
152 osteopetrosis 9.5
153 spinal muscular atrophy 9.5
154 lissencephaly 9.5
155 brachydactyly 9.5
156 townes-brocks syndrome 9.5
157 ptosis 9.5
158 autosomal recessive congenital ichthyosis 9.5
159 albright's hereditary osteodystrophy 9.5
160 blepharophimosis 9.5
161 esophageal atresia 9.5
162 lactocele 9.5
163 neonatal respiratory failure 9.5
164 respiratory failure 9.5
165 megacolon 9.5
166 heart disease 9.5
167 esophagitis 9.5
168 hypertrophic pyloric stenosis 9.5
169 pyloric stenosis 9.5
170 nephrocalcinosis 9.5
171 choreatic disease 9.5
172 ichthyosis 9.5
173 kernicterus 9.5
174 acromegaly 9.5
175 dyskeratosis congenita 9.5
176 central nervous system disease 9.5
177 kidney disease 9.5
178 conjunctivitis 9.5
179 muscular atrophy 9.5
180 neuronitis 9.5
181 lung disease 9.5
182 nervous system disease 9.5
183 hypopituitarism 9.5
184 hyperphenylalaninemia 9.5
185 polycystic kidney disease 9.5
186 triple x syndrome 9.5
187 diencephalic syndrome 9.5
188 gigantism 9.5
189 hypoganglionosis 9.5
190 slipped capital femoral epiphysis 9.5
191 hypotonia 9.5
192 epiphysiolysis of the hip 9.5
193 cardiogenic shock 9.5
194 differentiated thyroid carcinoma 9.3 FOXE1 NKX2-1 PAX8 TG TPO TSHR
195 thyroid cancer, nonmedullary, 1 9.1 FOXE1 NKX2-1 PAX8 SLC5A5 TG TPO
196 thyroid gland disease 8.7 DUOX2 FOXE1 PAX8 TG TPO TSHB
197 thyroid cancer 8.4 FOXE1 NKX2-1 PAX8 SLC5A5 TG TPO

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:

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

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

43 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 NKX2-1 NKX2-5 PAX8 TG TPO TSHR
2 growth/size/body region MP:0005378 9.65 GLIS3 NKX2-1 NKX2-5 PAX8 TG TPO
3 homeostasis/metabolism MP:0005376 9.28 GLIS3 NKX2-1 NKX2-5 PAX8 TG TPO

Drugs & Therapeutics for Congenital Hypothyroidism

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

(showing 33, 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 38904 498142
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 7553-56-2 807
31 cadexomer iodine
32 Radiopharmaceuticals
33 Sodium Pertechnetate Tc 99m

Interventional clinical trials:

(showing 16, 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
8 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 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 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
14 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
15 Subjective Factors of Polymedication in the Elderly: a Qualitative Study of the Perceptions of Patients, Relatives and Referent Physicians.(DOSAGE) Not yet recruiting NCT03309228
16 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 28

Anatomical Context for Congenital Hypothyroidism

MalaCards organs/tissues related to Congenital Hypothyroidism:

38
Thyroid, Brain, Testes, Bone, Heart, Prostate, Kidney

Publications for Congenital Hypothyroidism

Articles related to Congenital Hypothyroidism:

(showing 793, show less)
# Title Authors Year
1
Association between monoallelic<i>TSHR</i>mutations and congenital hypothyroidism: a statistical approach. ( 29092890 )
2018
2
Congenital Hypothyroidism Due to Dyshormonogenesis in 2 Siblings. ( 29450818 )
2018
3
Genetic and functional analysis of two missense<i>DUOX2</i>mutations in congenital hypothyroidism and goiter. ( 29435108 )
2018
4
c-Fos downregulation positively regulates EphA5 expression in a congenital hypothyroidism rat model. ( 29330744 )
2018
5
Congenital Hypothyroidism. ( 29405999 )
2018
6
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism. ( 29146476 )
2018
7
Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence? ( 29326865 )
2018
8
Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism. ( 29335252 )
2018
9
Mean high dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism. ( 29325045 )
2018
10
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
11
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. ( 28398607 )
2017
12
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
13
Congenital Hypothyroidism: Facts, Facets & Therapy. ( 28176629 )
2017
14
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. ( 28060725 )
2017
15
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
16
Vocal Evaluation of Children with Congenital Hypothyroidism. ( 28986152 )
2017
17
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
18
Congenital Hypothyroidism in Neonates of a Tertiary Care Hospital. ( 29142577 )
2017
19
Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism. ( 28225993 )
2017
20
TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM. ( 28683242 )
2017
21
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism. ( 28633507 )
2017
22
Hormonal and testicular changes in rats submitted to congenital hypothyroidism in early life. ( 27793676 )
2017
23
Screening of congenital hypothyroidism in preterm, low birth weight and very low birth weight neonates: A systematic review. ( 28811156 )
2017
24
Transient Congenital Hypothyroidism Alters Gene Expression of Glucose Transporters and Impairs Glucose Sensing Apparatus in Young and Aged Offspring Rats. ( 29073628 )
2017
25
Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test. ( 28917084 )
2017
26
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? ( 28694389 )
2017
27
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. ( 28898885 )
2017
28
Provider variability in the initial diagnosis and treatment of congenital hypothyroidism. ( 28328531 )
2017
29
Etiological evaluation of primary congenital hypothyroidism cases. ( 28747839 )
2017
30
Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter. ( 27862717 )
2017
31
Fighting against congenital hypothyroidism - Old soldiers never die. ( 28916230 )
2017
32
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. ( 28215547 )
2017
33
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH. ( 29074613 )
2017
34
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. ( 28541007 )
2017
35
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. ( 28749785 )
2017
36
Congenital hypothyroidism: insights into pathogenesis and treatment. ( 29026407 )
2017
37
Intelligence Quotient at the Age of 6 years of Iranian Children with Congenital Hypothyroidism. ( 28952455 )
2017
38
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. ( 28938886 )
2017
39
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
40
Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism. ( 29201074 )
2017
41
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. ( 28285292 )
2017
42
A Frequent Oligogenic Involvement in Congenital Hypothyroidism. ( 28444304 )
2017
43
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. ( 28100324 )
2017
44
Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10I1IU/mL have congenital hypothyroidism. ( 28738186 )
2017
45
Dyskeratosis congenita associated with congenital hypothyroidism. ( 29058334 )
2017
46
Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening. ( 28868522 )
2017
47
Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey. ( 28368265 )
2017
48
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. ( 28358714 )
2017
49
Intellectual development in preschool children with early treated congenital hypothyroidism. ( 28690988 )
2017
50
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. ( 28412200 )
2017
51
Neuroprotective activity of cannabinoid receptor-2 against oxidative stress and apoptosis in rat pups having experimentally-induced congenital hypothyroidism. ( 28799288 )
2017
52
Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland. ( 28690990 )
2017
53
Congenital urogenital abnormalities in children with congenital hypothyroidism. ( 28638814 )
2017
54
Sustained attention in school-age children with congenital hypothyroidism: Influence of episodes of overtreatment in the first three years of life. ( 29162287 )
2017
55
Cognitive profiles of patients with early detected and treated congenital hypothyroidism. ( 28097835 )
2017
56
Congenital Hypothyroidism: Role of Nuclear Medicine. ( 28237002 )
2017
57
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. ( 28666341 )
2017
58
Influence of topical iodine-containing antiseptics used during delivery on recall rate of congenital hypothyroidism screening program. ( 28809751 )
2017
59
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. ( 26995701 )
2016
60
Nationwide Evaluation of Congenital Hypothyroidism Screening during Neonatal Extracorporeal Membrane Oxygenation. ( 27639769 )
2016
61
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. ( 27557340 )
2016
62
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. ( 27637299 )
2016
63
Neonatal Screening for congenital hypothyroidism in Razavi Khorasan Province, Iran. ( 27611842 )
2016
64
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management. ( 27511826 )
2016
65
Congenital hypothyroidism - Polish recommendations for therapy, treatment monitoring, and screening tests in special categories of neonates with increased risk of hypothyroidism. ( 27828692 )
2016
66
Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia. ( 27658135 )
2016
67
Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. ( 27086592 )
2016
68
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. ( 26777470 )
2016
69
Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism. ( 26864598 )
2016
70
CONGENITAL HYPOTHYROIDISM AND BONE REMODELING CYCLE. ( 27840329 )
2016
71
Detecting congenital hypothyroidism with newborn screening: the relevance of thyroid-stimulating hormone cutoff values. ( 28024960 )
2016
72
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. ( 27255745 )
2016
73
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. ( 26735259 )
2016
74
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. ( 27498126 )
2016
75
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis. ( 27169104 )
2016
76
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
77
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates. ( 27060741 )
2016
78
Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism. ( 27267969 )
2016
79
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. ( 27349010 )
2016
80
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. ( 27173810 )
2016
81
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter. ( 27421132 )
2016
82
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. ( 27207603 )
2016
83
Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10a88mU/L. ( 27016213 )
2016
84
A baby with congenital hypothyroidism born to a hypothyroid mother who expressed undiagnosed thyroid stimulation blocking antibody. ( 27777909 )
2016
85
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. ( 27525530 )
2016
86
Congenital Hypothyroidism: An Unusual Combination of Biochemical Abnormalities. ( 27994903 )
2016
87
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. ( 27108200 )
2016
88
National Survey on Concepts for Congenital Hypothyroidism Screening of NICUs in Japan. ( 27192394 )
2016
89
Perfluoroalkyl substances in serum from South Korean infants with congenital hypothyroidism and healthy infants - Its relationship with thyroid hormones. ( 26950028 )
2016
90
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. ( 27061120 )
2016
91
Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. ( 28144251 )
2016
92
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
93
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. ( 26709262 )
2016
94
Congenital hypothyroidism with delayed thyroid-stimulating hormone elevation in premature infants born at less than 30 weeks gestation. ( 27906195 )
2016
95
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
96
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. ( 27373559 )
2016
97
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. ( 26742565 )
2016
98
The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study. ( 27283138 )
2016
99
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism. ( 26886089 )
2016
100
Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism. ( 27696498 )
2016
101
Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families. ( 27244801 )
2016
102
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. ( 27135621 )
2016
103
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. ( 27166716 )
2016
104
Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism. ( 27089409 )
2016
105
Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism. ( 27494505 )
2016
106
The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism. ( 26990941 )
2016
107
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
108
Congenital Hypothyroidism: Optimal Initial Dosage and Time of Initiation of Treatment: A Systematic Review. ( 27942261 )
2016
109
Growth development in children with congenital hypothyroidism: the effect of screening and treatment variables-a comprehensive longitudinal study. ( 27477291 )
2016
110
Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn. ( 27595265 )
2016
111
Liothyronine Improves Biochemical Control of Congenital Hypothyroidism in Patients with Central Resistance to Thyroid Hormone. ( 27178621 )
2016
112
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase. ( 26894573 )
2016
113
The role of season and climate in the incidence of congenital hypothyroidism in Kerman province, Southeastern Iran. ( 27941171 )
2016
114
Newborn screening for congenital hypothyroidism in Henan province, China. ( 26522654 )
2015
115
Single newborn screen or routine second screening for primary congenital hypothyroidism. ( 26293295 )
2015
116
Factors affecting parent-child relationships one year after positive newborn screening for cystic fibrosis or congenital hypothyroidism. ( 25493463 )
2015
117
Recent advances in central congenital hypothyroidism. ( 26416826 )
2015
118
Congenital hypothyroidism. ( 25729683 )
2015
119
Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2. ( 26565538 )
2015
120
Changes in the incidence and etiology of congenital hypothyroidism detected during 30A years of a screening program in central Serbia. ( 26346241 )
2015
121
Novel genetic variants in the TPO gene cause congenital hypothyroidism. ( 26174974 )
2015
122
Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment. ( 26244672 )
2015
123
Spatial Analysis of Neonatal Congenital Hypothyroidism and Nitrate as an Environmental Pollutant in Isfahan Province During 2010-2013. ( 26425331 )
2015
124
[DUOX2 mutations in children with congenital hypothyroidism]. ( 25616291 )
2015
125
Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism. ( 25707783 )
2015
126
Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism. ( 25591844 )
2015
127
The role of I imaging in the evaluation of infants with mild congenital hypothyroidism. ( 25531155 )
2015
128
Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening. ( 25572470 )
2015
129
Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study. ( 26511640 )
2015
130
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
131
Undiagnosed congenital hypothyroidism in a newborn treated with dopamine infusion. ( 25724212 )
2015
132
Effective Strategy for Newborn Screening for Congenital Hypothyroidism: Authors Reply. ( 26499025 )
2015
133
Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism. ( 25879312 )
2015
134
Hippocampal Functioning and Verbal Associative Memory in Adolescents with Congenital Hypothyroidism. ( 26539162 )
2015
135
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. ( 26349762 )
2015
136
The evaluation of transient hypothyroidism in patients diagnosed with congenital hypothyroidism. ( 26422840 )
2015
137
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family. ( 26777044 )
2015
138
Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism. ( 26356361 )
2015
139
[Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism]. ( 26663066 )
2015
140
Case Report of GNAS Epigenetic Defect Revealed by a Congenital Hypothyroidism. ( 25802348 )
2015
141
Prolonged ileus in an infant presenting with primary congenital hypothyroidism. ( 25866693 )
2015
142
Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland. ( 26160341 )
2015
143
Sonographic evaluation of children with congenital hypothyroidism. ( 26379320 )
2015
144
Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland. ( 25634148 )
2015
145
Compound Heterozygous DUOX2 Gene Mutations (c.2335-1G>C/c.3264_3267delCAGC) Associated with Congenital Hypothyroidism. Characterization of Complex Cryptic Splice Sites by Minigene Analysis. ( 26506010 )
2015
146
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism. ( 26362610 )
2015
147
Effective Strategy for Newborn Screening for Congenital Hypothyroidism. ( 26499024 )
2015
148
Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study. ( 25762444 )
2015
149
NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM. ( 27004363 )
2015
150
Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus Guideline. ( 25776656 )
2015
151
A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family. ( 27617131 )
2015
152
Congenital hypothyroidism: recent advances. ( 26313902 )
2015
153
Effect of atomoxetine on the cognitive functions in treatment of attention deficit hyperactivity disorder in children with congenital hypothyroidism: a pilot study. ( 25896257 )
2015
154
Diagnosis, treatment and outcome of congenital hypothyroidism. ( 25231444 )
2014
155
Unusual course of congenital hypothyroidism and route of the L-thyroxine treatment in a preterm newborn. ( 25241613 )
2014
156
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. ( 25153580 )
2014
157
Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement. ( 25088493 )
2014
158
Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis. ( 25277881 )
2014
159
ENDOCRINOLOGY AND ADOLESCENCE: Congenital Hypothyroidism A clinical update of long-term outcome in young adults. ( 25225479 )
2014
160
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands. ( 25248169 )
2014
161
Neonatal screening for congenital hypothyroidism. ( 25231443 )
2014
162
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. ( 25403430 )
2014
163
Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism. ( 25465605 )
2014
164
Congenital hypothyroidism and concurrent renal insufficiency in a kitten. ( 25685940 )
2014
165
One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism. ( 25241611 )
2014
166
Earlier re-evaluation may be possible in pediatric patients with eutopic congenital hypothyroidism requiring lower L-thyroxine doses. ( 25346918 )
2014
167
A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects. ( 24945425 )
2014
168
Congenital hypothyroidism: etiology and growth-development outcome. ( 25369009 )
2014
169
Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward. ( 25212576 )
2014
170
Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia. ( 24275619 )
2014
171
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
172
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism. ( 24745015 )
2014
173
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
174
Clinical genetics of congenital hypothyroidism. ( 25231445 )
2014
175
High incidence of congenital hypothyroidism in one region of the republic of macedonia. ( 25741212 )
2014
176
Congenital hypothyroidism and the importance of universal newborn screening. ( 24323500 )
2014
177
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
178
TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM. ( 25133201 )
2014
179
Congenital Hypothyroidism Long-Term Follow-up Project: Navigating the Rough Waters of a Multi-Center, Multi-State Public Health Project. ( 25403899 )
2014
180
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ( 25214233 )
2014
181
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism. ( 24690939 )
2014
182
Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia-a multiethnic country. ( 25192932 )
2014
183
Large thyroid cyst in a patient with congenital hypothyroidism. ( 25627053 )
2014
184
The severity of congenital hypothyroidism of central origin should not be underestimated. ( 25347570 )
2014
185
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
186
What has national screening program changed in cases with congenital hypothyroidism? ( 25562017 )
2014
187
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
188
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and "Apparent" Thyroid Dysgenesis. ( 24248179 )
2014
189
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
190
Newborn screening for congenital hypothyroidism. ( 23154158 )
2013
191
Analysis of EphA5 receptor in the developing rat brain: an in vivo study in congenital hypothyroidism model. ( 23636281 )
2013
192
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism. ( 24129411 )
2013
193
Experience in treating congenital hypothyroidism: implications regarding free thyroxine and thyrotropin steady-state concentrations during optimal levothyroxine treatment. ( 23013069 )
2013
194
Neuroplastic effects of music lessons on hippocampal volume in children with congenital hypothyroidism. ( 24064411 )
2013
195
Neurodevelopment evaluation in children with congenital hypothyroidism by Bayley-III. ( 22858380 )
2013
196
Lissencephaly presenting with congenital hypothyroidism. ( 23751382 )
2013
197
Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. ( 23312689 )
2013
198
Congenital Hypothyroidism Presenting with Seizures and Pseudo-Hirschsprung's Disease in Newborn. ( 24193956 )
2013
199
Dyshormonogenetic goiter-like changes in a child with congenital hypothyroidism and a euthyroid adult. ( 22362641 )
2013
200
Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent management. ( 23154163 )
2013
201
Congenital hypothyroidism - An usual suspect at an unusual age: A case series. ( 24251153 )
2013
202
Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey. ( 23748057 )
2013
203
Risk factors of congenital hypothyroidism using propensity score: a matched case-control study. ( 24077472 )
2013
204
Bilateral galactocele in a male infant with Down syndrome and congenital hypothyroidism. ( 24134763 )
2013
205
Treating congenital hypothyroidism--which levothyroxine? ( 23458784 )
2013
206
Cognitive development in congenital hypothyroidism: is overtreatment a greater threat than undertreatment? ( 23979950 )
2013
207
Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005-2009. ( 23402602 )
2013
208
Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring. ( 23861458 )
2013
209
Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. ( 23426615 )
2013
210
Growth and specialized growth charts of children with congenital hypothyroidism detected by neonatal screening in isfahan, iran. ( 23476799 )
2013
211
Diseases accompanying congenital hypothyroidism. ( 24353135 )
2013
212
Generic and brand-name L-thyroxine are not bioequivalent for children with severe congenital hypothyroidism. ( 23264396 )
2013
213
Early adiposity rebound and obesity in children with congenital hypothyroidism. ( 23590955 )
2013
214
THE CLINICAL AND MOLECULAR CHARACTERIZATION OF PATIENTS WITH DYSHORMONOGENIC CONGENITAL HYPOTHYROIDISM REVEALS SPECIFIC DIAGNOSTIC CLUES FOR DUOX2 DEFECTS. ( 24423310 )
2013
215
A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. ( 23292166 )
2013
216
A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. ( 24127536 )
2013
217
Congenital hypothyroidism. ( 23398895 )
2013
218
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. ( 23404215 )
2013
219
Screening for congenital hypothyroidism in newborns transferred to neonatal intensive care. ( 23183553 )
2013
220
Risk factors for congenital hypothyroidism in Egypt: results of a population case-control study (2003-2010). ( 23793431 )
2013
221
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. ( 24117978 )
2013
222
Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene. ( 23997037 )
2013
223
Newborn screening for congenital hypothyroidism. ( 23791721 )
2013
224
Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. ( 23949896 )
2013
225
A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract. ( 23647375 )
2013
226
Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism. ( 23828490 )
2013
227
Prevalence of permanent congenital hypothyroidism in isfahan-iran. ( 24498491 )
2013
228
A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism. ( 23412856 )
2013
229
The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism. ( 23412840 )
2013
230
Aortic Intima-Media Thickness in Newborns with Congenital Hypothyroidism. ( 24051741 )
2013
231
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. ( 24174944 )
2013
232
The association between some endocrine disruptors in human plasma and the occurrence of congenital hypothyroidism. ( 23376177 )
2013
233
Generic levothyroxine compared with synthroid in young children with congenital hypothyroidism. ( 23293325 )
2013
234
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene. ( 23455760 )
2013
235
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
236
Changes of red blood cell rheology in newborns with congenital hypothyroidism during treatment. ( 23544882 )
2013
237
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess. ( 23239635 )
2013
238
Imaging criteria for categorizing congenital hypothyroidism into thyroid hypoplasia and dyshormonogenesis subtypes. ( 23525719 )
2013
239
Difference in the incidence of congenital hypothyroidism among world countries. ( 24413874 )
2013
240
Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010). ( 24008435 )
2013
241
Monitoring and prognostic evaluation of patients with congenital hypothyroidism treated in a pediatric endocrinology unit. ( 24292031 )
2013
242
A retrospective review of newborn screening for congenital hypothyroidism and newborn thyroid disease at a major medical center. ( 23785061 )
2013
243
A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter. ( 23737781 )
2013
244
Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. ( 23681264 )
2013
245
No Crying Episode after DwPT- A Case of Congenital Hypothyroidism. ( 23998117 )
2013
246
Prevalence of transient congenital hypothyroidism in central part of Iran. ( 24379847 )
2013
247
Transient hypothyroidism at 3-year follow-up among cases of congenital hypothyroidism detected by newborn screening. ( 22878110 )
2013
248
Congenital hypothyroidism alters the oxidative status, enzyme activities and morphological parameters in the hippocampus of developing rats. ( 23693027 )
2013
249
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. ( 23840807 )
2013
250
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
251
A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect. ( 24158420 )
2013
252
Children with congenital hypothyroidism have similar neuroradiological abnormal findings as healthy ones. ( 24222727 )
2013
253
Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. ( 23780375 )
2013
254
Epidemiology and clinical characteristics of congenital hypothyroidism in an Asian population: a nationwide population-based study. ( 23291568 )
2013
255
Congenital Hypothyroidism Treatment in Infants: A Comparative Study between Liquid and Tablet Formulations of Levothyroxine. ( 24247169 )
2013
256
Congenital hypothyroidism presenting with postpartum bradycardia. ( 23458047 )
2013
257
Visuospatial, visuoperceptual, and visuoconstructive abilities in congenital hypothyroidism. ( 24124766 )
2013
258
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. ( 23457309 )
2013
259
Congenital anomalies in infant with congenital hypothyroidism. ( 23074545 )
2012
260
Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. ( 21958696 )
2012
261
Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism. ( 22876532 )
2012
262
Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993-2010. ( 22723332 )
2012
263
Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening. ( 23034129 )
2012
264
Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome. ( 22198067 )
2012
265
Congenital hypothyroidism with goiter in Tenterfield terriers. ( 23113744 )
2012
266
Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry? ( 23396030 )
2012
267
Congenital hypothyroidism mutations affect common folding and trafficking in the I+/I^-hydrolase fold proteins. ( 23035660 )
2012
268
Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil. ( 22666737 )
2012
269
Missed congenital hypothyroidism in an identical twin. ( 22970836 )
2012
270
Refractory cardiogenic shock in an infant with congenital hypothyroidism. ( 23188956 )
2012
271
Thyroid peroxidase gene mutation in patients with congenital hypothyroidism in isfahan, iran. ( 22919382 )
2012
272
Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism. ( 22953072 )
2012
273
Congenital hypothyroidism due to maternal radioactive iodine exposure during pregnancy. ( 22672871 )
2012
274
Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects. ( 21816548 )
2012
275
Hypothyroidism in children beyond 5 y of age: delayed diagnosis of congenital hypothyroidism. ( 22237638 )
2012
276
Congenital hypothyroidism screening program in Turkey: a local evaluation. ( 23692784 )
2012
277
High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role? ( 23326768 )
2012
278
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program. ( 23033178 )
2012
279
Congenital hypothyroidism: a review of the risk factors. ( 23292624 )
2012
280
Linear growth and neurodevelopmental outcome of children with congenital hypothyroidism detected by neonatal screening: A controlled study. ( 22837917 )
2012
281
Congenital Hypothyroidism with Gland in situ is More Frequent than Previously Thought. ( 22654855 )
2012
282
Detection and treatment of congenital hypothyroidism. ( 22009163 )
2012
283
Unawareness of the effects of soy intake on the management of congenital hypothyroidism. ( 22908106 )
2012
284
Epidemiology of congenital hypothyroidism: what can be deduced from the Italian registry of infants with congenital hypothyroidism. ( 23025761 )
2012
285
A case of congenital hypothyroidism in PHACE syndrome. ( 22876567 )
2012
286
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
287
Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects. ( 22911283 )
2012
288
Evaluation of congenital hypothyroidism in fars province, iran. ( 23056868 )
2012
289
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. ( 22898500 )
2012
290
Ultrasonographic description of brain cortex and cingulate sulcus development in Mexican neonates and infants with congenital hypothyroidism. ( 22570956 )
2012
291
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
292
Ultrasound for primary imaging of congenital hypothyroidism. ( 22915427 )
2012
293
Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening. ( 23027136 )
2012
294
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. ( 23169673 )
2012
295
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism. ( 22293317 )
2012
296
Performance metrics after changes in screening protocol for congenital hypothyroidism. ( 23045555 )
2012
297
Permanent and transient congenital hypothyroidism in preterm infants. ( 22107264 )
2012
298
Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper. ( 22301913 )
2012
299
Neonatal screening for congenital hypothyroidism in East Azerbaijan, Iran: the first report. ( 23060475 )
2012
300
Evaluation of current guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis. ( 22369300 )
2012
301
Identifying quantitative trait loci affecting resistance to congenital hypothyroidism in 129/SvJcl strain mice. ( 22299049 )
2012
302
Prevalence of permanent and transient congenital hypothyroidism in Babol City -Iran. ( 22926374 )
2012
303
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
304
Hirschsprungs disease with congenital hypothyroidism. ( 22484747 )
2012
305
The autonomic condition of children with congenital hypothyroidism as indicated by the analysis of heart rate variability. ( 22112613 )
2012
306
Elevated serum ferritin and soluble transferrin receptor in infants with congenital hypothyroidism. ( 22768652 )
2012
307
Synchronous occurrence of papillary carcinoma in the thyroid gland and thyroglossal duct in an adolescent with congenital hypothyroidism. ( 22394702 )
2012
308
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
309
Congenital hypothyroidism: Screening dilemma. ( 23565366 )
2012
310
Different aspects of kidney function in well-controlled congenital hypothyroidism. ( 23261862 )
2012
311
The role of maternal thyroid stimulating hormone receptor blocking antibodies in the etiology of congenital hypothyroidism in isfahan, iran. ( 22347610 )
2012
312
Congenital hypothyroidism. ( 22570946 )
2012
313
Neonatal screening for congenital hypothyroidism in Japan. ( 23330249 )
2012
314
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. ( 22405933 )
2012
315
Visuospatial associative memory and hippocampal functioning in congenital hypothyroidism. ( 22114849 )
2012
316
Congenital hypothyroidism caused by excess prenatal maternal iodineA ingestion. ( 22841183 )
2012
317
Assessment of impact of internal exposure to PBDEs on human thyroid function--comparison between congenital hypothyroidism and normal paired blood. ( 22578177 )
2012
318
Increased risk of coeliac disease in patients with congenital hypothyroidism. ( 21757873 )
2011
319
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
320
Congenital hypothyroidism: managing the hinterland between fact and theory. ( 20959358 )
2011
321
Persistent hyperthyrotropinemia in congenital hypothyroidism: successful combination treatment with levothyroxine and liothyronine. ( 21823534 )
2011
322
The continuing health burden of congenital hypothyroidism in the era of neonatal screening. ( 21602460 )
2011
323
Frequency of congenital hypothyroidism in neonates in the Konya region, Turkey. ( 21648280 )
2011
324
Neonatal plasma TSH--estimated upper reference intervals for diagnosis and follow up of congenital hypothyroidism. ( 21545246 )
2011
325
Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in QuAcbec. ( 21632812 )
2011
326
[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism]. ( 22093430 )
2011
327
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
328
Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis. ( 21054242 )
2011
329
Congenital hypothyroidism of dogs and cats: a review. ( 21541884 )
2011
330
The usefulness of ultrasound in follow-up of a patient with dyshormonogenetic congenital hypothyroidism. ( 21932596 )
2011
331
The role of ultrasonography in primary congenital hypothyroidism. ( 22973380 )
2011
332
The increased incidence of congenital hypothyroidism: fact or fancy? ( 21623857 )
2011
333
Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes. ( 21232766 )
2011
334
Natal teeth in an infant with congenital hypothyroidism. ( 22048606 )
2011
335
Von Willebrand factor, and soluble intercellular and vascular cell adhesion molecules as indices of endothelial activation in patients with congenital hypothyroidism. ( 21734348 )
2011
336
Transient congenital hypothyroidism. ( 21966647 )
2011
337
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. ( 21543982 )
2011
338
Impaired neuromotor outcome in school-age children with congenital hypothyroidism receiving early high-dose substitution treatment. ( 21857388 )
2011
339
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
340
Clinical monitoring guidelines for congenital hypothyroidism: laboratory outcome data in the first year of life. ( 21094953 )
2011
341
Congenital hypothyroidism: analysis of discordant US and scintigraphic findings. ( 21339351 )
2011
342
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
343
Rare presentations of congenital hypothyroidism. ( 22332453 )
2011
344
Congenital hypothyroidism. ( 22256695 )
2011
345
Hippocampal size and memory functioning in children and adolescents with congenital hypothyroidism. ( 21697249 )
2011
346
Does congenital hypothyroidism have different etiologies in iran? ( 23056786 )
2011
347
Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome. ( 21448332 )
2011
348
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test. ( 21331666 )
2011
349
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. ( 21707688 )
2011
350
Congenital hypothyroidism: delayed detection after birth and monitoring treatment in the first year of life. ( 21220141 )
2011
351
Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? ( 21242230 )
2011
352
Transient congenital hypothyroidism due to thyroid-stimulating hormone receptor blocking antibodies: a case series. ( 21606073 )
2011
353
Informatics of newborn screening for congenital hypothyroidism in Alberta 2005-08: flow of information from birth to treatment. ( 21485968 )
2011
354
Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions. ( 21098687 )
2011
355
Increasing incidence of congenital hypothyroidism: some answers, more questions. ( 21816799 )
2011
356
Determinants of thyrotropin rise in congenital hypothyroidism. ( 21920541 )
2011
357
Hypertrichosis due to Congenital Hypothyroidism. ( 21769236 )
2011
358
Congenital hypothyroidism with severe hypoganglionosis of the colon in a 10 years old girl, a case report. ( 23409402 )
2011
359
Congenital hypothyroidism in association with chromosome 3p25.3-pter deletion. ( 22145477 )
2011
360
The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution. ( 20584847 )
2011
361
Thyroglobulin gene mutations in congenital hypothyroidism. ( 21372558 )
2011
362
Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment. ( 21467693 )
2011
363
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
364
Reevaluation of congenital hypothyroidism. ( 21478566 )
2011
365
Thyroid dysfunctions in children detected in mass screening for congenital hypothyroidism. ( 21648281 )
2011
366
Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH. ( 22155464 )
2011
367
Thyroid function abnormalities among first-degree relatives of Iranian congenital hypothyroidism neonates. ( 20003140 )
2010
368
Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. ( 20799077 )
2010
369
Congenital hypothyroidism: an evolving common clinical conundrum. ( 20823472 )
2010
370
Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. ( 20591982 )
2010
371
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317 )
2010
372
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. ( 20427504 )
2010
373
Screening: Sensitivity versus specificity: neonatal screening for congenital hypothyroidism. ( 21080544 )
2010
374
Time trend and geographic distribution of treated patients with congenital hypothyroidism relative to the number of available endocrinologists in Japan. ( 20227725 )
2010
375
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. ( 20435718 )
2010
376
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. ( 20122987 )
2010
377
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
378
Thyroid profile of term appropriate for gestational age neonates in Nigeria: a forerunner to screening for congenital hypothyroidism. ( 20085966 )
2010
379
Effects of long-term L-thyroxine treatment on endothelial function and arterial distensibility in young adults with congenital hypothyroidism. ( 19903797 )
2010
380
Congenital hypothyroidism and nephrocalcinosis. ( 20371898 )
2010
381
Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States. ( 20435719 )
2010
382
Hypertrabecular aspect of left ventricular myocardium: a possible complication of congenital hypothyroidism in a preterm infant. ( 20121390 )
2010
383
Effect of temperature changes on the occurrence of congenital hypothyroidism. ( 20956721 )
2010
384
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. ( 20484477 )
2010
385
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. ( 20094846 )
2010
386
Polysomnographic features in infants with early diagnosis of congenital hypothyroidism. ( 19665328 )
2010
387
Newborn screening strategies for congenital hypothyroidism: an update. ( 20195902 )
2010
388
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. ( 20718765 )
2010
389
Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary. ( 20435715 )
2010
390
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. ( 21714469 )
2010
391
Lingual thyroid as a cause of primary hypothyroidism: congenital hypothyroidism in the neonatal period and beyond. ( 20356923 )
2010
392
Effect of laboratory practices on the incidence rate of congenital hypothyroidism. ( 20435717 )
2010
393
Congenital hypothyroidism: etiology. ( 21073124 )
2010
394
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
395
A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. ( 20160132 )
2010
396
Screening for congenital hypothyroidism in extreme premature and/or very low birth weight newborns: the importance of a specific protocol. ( 20432805 )
2010
397
High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism. ( 21714466 )
2010
398
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. ( 21048839 )
2010
399
Congenital hypothyroidism. ( 20537182 )
2010
400
Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain. ( 20432804 )
2010
401
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect. ( 21340161 )
2010
402
Esophageal atresia concomitant with congenital hypothyroidism and phenylketonuria in a newborn. ( 20432825 )
2010
403
Impaired astrocytic extracellular matrix distribution under congenital hypothyroidism affects neuronal development in vitro. ( 20839308 )
2010
404
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. ( 20972728 )
2010
405
Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data. ( 20156344 )
2010
406
Congenital hypothyroidism in a kitten resulting in decreased IGF-I concentration and abnormal liver function tests. ( 20223692 )
2010
407
High prevalence of associated birth defects in congenital hypothyroidism. ( 20454578 )
2010
408
Osteopetrosis and congenital hypothyroidism complicated by slipped capital femoral epiphysis. ( 20150025 )
2010
409
Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination. ( 20467163 )
2010
410
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
411
Newborn screening for congenital hypothyroidism: improved assay performance has created an evidence gap. ( 20446113 )
2010
412
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. ( 20157192 )
2010
413
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
414
Congenital hypothyroidism is not always permanent: caveats to newborn thyroid screen interpretation. ( 21048256 )
2010
415
Diagnostic re-evaluation of children with congenital hypothyroidism. ( 20308767 )
2010
416
Congenital hypothyroidism due to unexpected iodine sources. ( 20431276 )
2010
417
Congenital hypothyroidism alters formalin-induced pain response in neonatal rats. ( 18992317 )
2009
418
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism. ( 21499658 )
2009
419
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
420
Congenital hypothyroidism--a delayed diagnosis in a neonate. A case report. ( 19764677 )
2009
421
Quality of life of young adults with congenital hypothyroidism. ( 19371292 )
2009
422
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. ( 20020575 )
2009
423
Beckwith-Wiedemann syndrome associated with congenital hypothyroidism in a preterm neonate: a case report and literature review. ( 19474816 )
2009
424
Congenital hypothyroidism in Calabria: epidemiological and clinical aspects. ( 20061667 )
2009
425
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. ( 19556108 )
2009
426
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. ( 18787501 )
2009
427
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
428
The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism. ( 19490661 )
2009
429
Congenital hypothyroidism simulating acromegaly - a diagnostic pitfall. ( 19855353 )
2009
430
Audit of initial management of congenital hypothyroidism in the United Kingdom--comparison of UK practice with European and UK guidelines. ( 20101887 )
2009
431
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
432
A strategy to avoid missed cases in a Brazilian neonatal TSH screening program for congenital hypothyroidism. ( 19618663 )
2009
433
A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. ( 21274302 )
2009
434
Repeatability of heart rate variability in congenital hypothyroidism as analysed by detrended fluctuation analysis. ( 19706959 )
2009
435
Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child. ( 19492583 )
2009
436
Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. ( 18698134 )
2009
437
Follow-up study of behavioral development and parenting stress profiles in children with congenital hypothyroidism. ( 19858037 )
2009
438
Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. ( 18823909 )
2009
439
Monozygotic twins are generally discordant for congenital hypothyroidism from thyroid dysgenesis. ( 19844119 )
2009
440
Patient information page from the hormone foundation. Congenital hypothyroidism. ( 19425218 )
2009
441
Morphological abnormalities in children with thyroidal congenital hypothyroidism. ( 19367618 )
2009
442
Pitfalls in screening programs for congenital hypothyroidism in premature newborns. ( 19085681 )
2009
443
Neonatal sludge: a finding of congenital hypothyroidism. ( 21274296 )
2009
444
A novel presentation of diffuse lung disease caused by congenital hypothyroidism. ( 19773006 )
2009
445
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. ( 19158199 )
2009
446
Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. ( 18668261 )
2009
447
Permanent and transient congenital hypothyroidism in Isfahan-Iran. ( 19349525 )
2009
448
High versus low dose of initial thyroid hormone replacement for congenital hypothyroidism. ( 19160309 )
2009
449
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). ( 19486019 )
2009
450
Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. ( 19534617 )
2009
451
Intractable neonatal seizures: an unusual presentation of congenital hypothyroidism. ( 20020585 )
2009
452
Screening newborns for congenital hypothyroidism. ( 19391458 )
2009
453
Neonatal screening for congenital hypothyroidism and phenylketonuria in China. ( 19718537 )
2009
454
Fetal heart rate tracing patterns associated with congenital hypothyroidism. ( 19467638 )
2009
455
Diagnostic spectrum of congenital hypothyroidism in Turkish children. ( 19674358 )
2009
456
Kidney growth in children with congenital hypothyroidism. ( 18815815 )
2009
457
Routine renal ultrasounds in children with congenital hypothyroidism: a premature conclusion? ( 19732600 )
2009
458
Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil. ( 19198739 )
2009
459
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. ( 20101889 )
2009
460
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
461
Methodological and organizational aspects of newborn screening for congenital hypothyroidism in Macedonia. ( 18709003 )
2008
462
Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. ( 18456702 )
2008
463
Cord blood thyroxine and thyroid stimulating hormone screening for congenital hypothyroidism: how useful are they? ( 18540251 )
2008
464
Congenital hypothyroidism: a forgotten clinical diagnosis? ( 18780595 )
2008
465
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
466
Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics. ( 24790365 )
2008
467
A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation. ( 19169491 )
2008
468
Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. ( 18445672 )
2008
469
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. ( 17876604 )
2008
470
Delayed closure of the ductus arteriosus in term newborns with congenital hypothyroidism: effect of L-thyroxine therapy. ( 17876651 )
2008
471
A novel therapeutic paradigm to treat congenital hypothyroidism. ( 18598275 )
2008
472
Propylthiouracil-induced congenital hypothyroidism upregulates vimentin phosphorylation and depletes antioxidant defenses in immature rat testis. ( 18316471 )
2008
473
The implementation of revised guidelines and the performance of a screening programme for congenital hypothyroidism. ( 18416947 )
2008
474
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. ( 18042646 )
2008
475
Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey. ( 18547957 )
2008
476
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. ( 18379122 )
2008
477
Repeat testing for congenital hypothyroidism in preterm infants is unnecessary with an appropriate thyroid stimulating hormone threshold. ( 18252816 )
2008
478
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. ( 18029453 )
2008
479
Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndrome. ( 18250537 )
2008
480
Congenital hypothyroidism. ( 18536892 )
2008
481
Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome. ( 18824871 )
2008
482
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. ( 18631008 )
2008
483
Birth prevalence of congenital hypothyroidism in Mexico. ( 18782254 )
2008
484
Clinical description of infants with congenital hypothyroidism and iodide organification defects. ( 18772598 )
2008
485
Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. ( 18845185 )
2008
486
Indicators of the screening program for congenital hypothyroidism in alexandria. ( 19302782 )
2008
487
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene. ( 19189706 )
2008
488
Incidence of iodine deficiency in Turkish patients with congenital hypothyroidism. ( 18533935 )
2008
489
Neuro-developmental deficits in early-treated congenital hypothyroidism. ( 19904446 )
2008
490
Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening. ( 19904469 )
2008
491
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
492
Delayed closure of ductus arteriosus in term newborns with congenital hypothyroidism: effect of L-thyroxine therapy. ( 17676369 )
2008
493
Reply on: Congenital hypothyroidism: look at the whole patient! Horm Res 2007;68:276-277. ( 18493151 )
2008
494
Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme. ( 19904471 )
2008
495
Increase in congenital hypothyroidism due to inadequate iodine nutrition? ( 18093858 )
2008
496
Implication of the endocannabinoid system in the locomotor hyperactivity associated with congenital hypothyroidism. ( 18218697 )
2008
497
Long-term cardiovascular effects of levothyroxine therapy in young adults with congenital hypothyroidism. ( 18445676 )
2008
498
Audit of newborn screening programme for congenital hypothyroidism. ( 19385494 )
2008
499
Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. ( 18460566 )
2008
500
Screening for congenital hypothyroidism: US Preventive Services Task Force reaffirmation recommendation. ( 18332410 )
2008
501
Should the levothyroxine starting dose be tailored to disease severity in neonates with congenital hypothyroidism? ( 18825139 )
2008
502
Intellectual outcome, motor skills and BMI of children with congenital hypothyroidism: a population-based study. ( 18331367 )
2008
503
Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism. ( 18543337 )
2008
504
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. ( 18765513 )
2008
505
Universal newborn screening for congenital hypothyroidism. ( 18451459 )
2008
506
Persistently raised thyroid stimulating hormone in adequately treated congenital hypothyroidism on long-term follow-up. ( 18540252 )
2008
507
Resetting the detection level of cord blood thyroid stimulating hormone (TSH) for the diagnosis of congenital hypothyroidism. ( 17878179 )
2008
508
Obesity and attenuated adiposity rebound in children with congenital hypothyroidism. Normalization of BMI values in adolescents. ( 17611907 )
2007
509
Thyroxine replacement in an animal model of congenital hypothyroidism. ( 17445845 )
2007
510
High risk of congenital hypothyroidism in multiple pregnancies. ( 17488789 )
2007
511
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. ( 17440044 )
2007
512
Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan. ( 17587265 )
2007
513
Seasonality in the incidence of congenital hypothyroidism in Japan: gender-specific patterns and correlation with temperature. ( 17956160 )
2007
514
Recombinant thyrotropin in the diagnosis of congenital hypothyroidism. ( 17284628 )
2007
515
Prevalence of minor musculoskeletal anomalies in children with congenital hypothyroidism. ( 17587855 )
2007
516
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
517
Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy. ( 17082261 )
2007
518
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. ( 17218725 )
2007
519
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
520
Congenital hypothyroidism: look at the whole patient! Editorial comment on the paper by El Kholy et al. in this issue. ( 17587856 )
2007
521
How should we be treating children with congenital hypothyroidism? ( 17642417 )
2007
522
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
523
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. ( 17374849 )
2007
524
[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism]. ( 17953807 )
2007
525
Update on the management of congenital hypothyroidism. ( 18174723 )
2007
526
Male congenital hypothyroid Pax8-/- mice are infertile despite adequate treatment with thyroid hormone. ( 17210747 )
2007
527
Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age. ( 17164300 )
2007
528
Incidence of congenital hypothyroidism and congenital adrenal hyperplasia at Flushing Hospital Medical Center. ( 17616041 )
2007
529
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. ( 17532758 )
2007
530
What is your diagnosis? Congenital hypothyroidism. ( 17199487 )
2007
531
Effects of levothyroxine therapy on left and right ventricular function in neonates with congenital hypothyroidism: a tissue Doppler echocardiography study. ( 17962990 )
2007
532
Mental development of infants with congenital hypothyroidism: a longitudinal study. ( 17164510 )
2007
533
Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan. ( 17687829 )
2007
534
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in QuAcbec. ( 17504897 )
2007
535
Seasonal variation in the incidence of congenital hypothyroidism in Isfahan, Iran. ( 17914523 )
2007
536
Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism. ( 17307219 )
2007
537
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. ( 17381485 )
2007
538
Early assessment of hypothalamic-pituitary-gonadal function in patients with congenital hypothyroidism of central origin. ( 17047014 )
2007
539
Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy. ( 17318546 )
2007
540
Young adults with severe congenital hypothyroidism: cognitive event related potentials (ERPs) and the significance of an early start of thyroxine treatment. ( 17257370 )
2007
541
A Japanese patient of congenital hypothyroidism with cerebellar atrophy. ( 18000345 )
2007
542
Presumed levothyroxine-induced pseudotumor cerebri in a pediatric patient being treated for congenital hypothyroidism. ( 19668534 )
2007
543
TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. ( 17318017 )
2007
544
PHACES syndrome with congenital hypothyroidism. ( 17351309 )
2007
545
Increased incidence of congenital hypothyroidism due to iodine deficiency. ( 17250510 )
2007
546
Longitudinal assessment of levo-thyroxine therapy for congenital hypothyroidism: relationship with aetiology, bone maturation and biochemical features. ( 17337903 )
2007
547
Increase in congenital hypothyroidism in New York State and in the United States. ( 17512233 )
2007
548
Update of newborn screening and therapy for congenital hypothyroidism. ( 16740880 )
2006
549
Patients with congenital hypothyroidism demonstrate different altered expression of plasma fibrinogen and haptoglobin polypeptide chains. ( 16412408 )
2006
550
[Congenital hypothyroidism]. ( 17072233 )
2006
551
Newborn screening for congenital hypothyroidism. ( 17220056 )
2006
552
Congenital hypothyroidism in one of monozygotic twins: comparison of their long-term psychosomatic development. ( 16648804 )
2006
553
Word and face recognition in children with congenital hypothyroidism: an event-related potential study. ( 16624781 )
2006
554
Dopamine infusion: a possible cause of undiagnosed congenital hypothyroidism in preterm infants. ( 16575344 )
2006
555
Effects of early high-dose levothyroxine treatment on auditory brain event-related potentials at school entry in children with congenital hypothyroidism. ( 16912511 )
2006
556
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. ( 17121535 )
2006
557
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. ( 16882747 )
2006
558
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. ( 16995592 )
2006
559
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. ( 16684826 )
2006
560
Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. ( 16763387 )
2006
561
Neonatal hypertrichosis in an infant of a diabetic mother with congenital hypothyroidism. ( 16570082 )
2006
562
Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism. ( 17551472 )
2006
563
Congenital hypothyroidism: from paracelsus to molecular diagnosis. ( 16730255 )
2006
564
Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin. ( 16889491 )
2006
565
Delay in screening premature infants for congenital hypothyroidism. ( 17056851 )
2006
566
The effect of life-long thyroxine treatment and physical activity on bone mineral density in young adult women with congenital hypothyroidism. ( 17252693 )
2006
567
Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening. ( 16303842 )
2006
568
Goitrous congenital hypothyroidism in a twin pregnancy causing respiratory obstruction at birth: implications for management. ( 17062458 )
2006
569
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
570
An occasional side effect in the treatment of congenital hypothyroidism: hair loss. ( 16552543 )
2006
571
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. ( 17199441 )
2006
572
[Tc]-99m thyroid scintigraphy in congenital hypothyroidism screening program. ( 16943215 )
2006
573
Congenital hypothyroidism and the second newborn metabolic screening in Colorado, USA. ( 16509526 )
2006
574
Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. ( 16595645 )
2006
575
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. ( 16787990 )
2006
576
Congenital hypothyroidism (cretinism) in neuroD2-deficient mice. ( 16705180 )
2006
577
Thyroid hormone in hypopituitarism, Graves' disease, congenital hypothyroidism, and maternal thyroid disease during pregnancy. ( 16707271 )
2006
578
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. ( 16715098 )
2006
579
Congenital hypothyroidism in Peters plus syndrome. ( 16754209 )
2006
580
Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. ( 16864597 )
2006
581
Neonatal thyrotropin as measured in a congenital hypothyroidism screening program: influence of the mode of delivery. ( 16144951 )
2005
582
A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism. ( 15844790 )
2005
583
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
584
Efficacy of congenital hypothyroidism neonatal screening in preterms less than 32 weeks of gestational age: more evidence. ( 15844471 )
2005
585
Undetectable serum IgA and low IgM concentration in children with congenital hypothyroidism. ( 15925836 )
2005
586
Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. ( 16398841 )
2005
587
Neonatal screening for congenital hypothyroidism in West Black Sea area, Turkey. ( 15857333 )
2005
588
Neonatal detection of congenital hypothyroidism of central origin. ( 15784706 )
2005
589
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
590
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
591
Genetics of congenital hypothyroidism. ( 15863666 )
2005
592
Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism. ( 15827096 )
2005
593
High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990-2000. ( 15921174 )
2005
594
Clinical presentation of primary congenital hypothyroidism: experience before mass screening. ( 16351594 )
2005
595
Screening for congenital hypothyroidism: the value of retesting after four weeks in neonates with low and very low birth weight. ( 16417691 )
2005
596
Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). ( 16322381 )
2005
597
[Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. ( 15719039 )
2005
598
Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism. ( 15728201 )
2005
599
Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4 dose and time to reach target T4 and TSH. ( 16356430 )
2005
600
Umbilical cord blood TSH levels in term neonates: a screening tool for congenital hypothyroidism. ( 16269841 )
2005
601
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. ( 16189712 )
2005
602
Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report. ( 15813611 )
2005
603
Congenital hypothyroidism: no adverse effects of high dose thyroxine treatment on adult memory, attention, and behaviour. ( 15665163 )
2005
604
A mouse model demonstrates a multigenic origin of congenital hypothyroidism. ( 16150900 )
2005
605
Treatment and follow-up of children with transient congenital hypothyroidism. ( 16358380 )
2005
606
Children with congenital hypothyroidism and their siblings: do they really differ? ( 15629966 )
2005
607
High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. ( 15753677 )
2005
608
Precocious puberty with congenital hypothyroidism. ( 15990731 )
2005
609
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation. ( 16117192 )
2005
610
Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. ( 15807875 )
2005
611
Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. ( 16356429 )
2005
612
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. ( 15745925 )
2005
613
Seasonality in the incidence of congenital hypothyroidism in Japan. ( 16014151 )
2005
614
Congenital hypothyroidism alters the phosphorylation of ERK1/2 and p38MAPK in the hippocampus of neonatal rats. ( 15617763 )
2005
615
Next generation newborn screening for congenital hypothyroidism? ( 15917488 )
2005
616
Congenital hypothyroidism. ( 15665157 )
2005
617
Ultrasonographic assessment of the ectopic thyroid tissue in children with congenital hypothyroidism. ( 14586525 )
2004
618
Developmental hormonal profiles in rdw rats with congenital hypothyroidism accompanying increased testicular size and infertility in adulthood. ( 15647620 )
2004
619
Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism. ( 15171721 )
2004
620
In search of the optimal therapy for congenital hypothyroidism. ( 15192611 )
2004
621
Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. ( 15012609 )
2004
622
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
623
Bilateral anotia with congenital hypothyroidism. ( 15107526 )
2004
624
Definitive diagnosis in children with congenital hypothyroidism. ( 15127002 )
2004
625
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. ( 14646397 )
2004
626
Soy formula complicates management of congenital hypothyroidism. ( 14709499 )
2004
627
The use of L-T4 as liquid solution improves the practicability and individualized dosage in newborns and infants with congenital hypothyroidism. ( 15301044 )
2004
628
Head circumference and linear growth during the first 3 years in treated congenital hypothyroidism in relation to aetiology and initial biochemical severity. ( 15212659 )
2004
629
[Molecular-genetic aspects of congenital hypothyroidism]. ( 15858240 )
2004
630
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
631
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. ( 15611820 )
2004
632
Prevalence of congenital hypothyroidism in Isfahan, Iran: results of a survey on 20,000 neonates. ( 15237248 )
2004
633
Gene symbol: TSH B. Disease: congenital hypothyroidism. ( 15300985 )
2004
634
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. ( 15301052 )
2004
635
Evaluation of experimental methods to induce congenital hypothyroidism in guinea pigs for use in the study of congenital hypothyroidism in horses. ( 15478773 )
2004
636
Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. ( 15192621 )
2004
637
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. ( 15329322 )
2004
638
Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism. ( 15499948 )
2004
639
Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism. ( 14974635 )
2004
640
Expression of pituitary hormones in the Pax8-/- mouse model of congenital hypothyroidism. ( 14617574 )
2004
641
Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidism. ( 15367200 )
2004
642
The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. ( 15574601 )
2004
643
Psychological adjustment of children with congenital hypothyroidism and phenylketonuria as related to parental psychological adjustment. ( 15252232 )
2004
644
Primary congenital hypothyroidism: clinical characteristics and etiological study. ( 15279337 )
2004
645
Effect of long-term L-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism. ( 15588234 )
2004
646
Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. ( 15320969 )
2004
647
An investigation of impulsivity in children with early-treated congenital hypothyroidism. ( 15456686 )
2004
648
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. ( 15289765 )
2004
649
Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. ( 15473876 )
2004
650
A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. ( 15506679 )
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
Quantitative computed tomography measurements of bone mineral density in prepubertal children with congenital hypothyroidism treated with L-thyroxine. ( 15270407 )
2004
653
Multivariate analysis on factors affecting suppression of thyroid-stimulating hormone in treated congenital hypothyroidism. ( 15499223 )
2004
654
Predictors of intellectual outcome in a cohort of Brazilian children with congenital hypothyroidism. ( 14725688 )
2004
655
Congenital hypothyroidism in a cat. ( 15025157 )
2004
656
Molecular genetic defects in congenital hypothyroidism. ( 15554885 )
2004
657
Congenital hypothyroidism caused by a unique thyroid peroxidase allele containing two mutations, C1708T and C2737T. ( 15055360 )
2004
658
Primary congenital hypothyroidism, newborn thyroid function, and environmental perchlorate exposure among residents of a Southern California community. ( 14534454 )
2003
659
Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. ( 14657824 )
2003
660
Screening for congenital hypothyroidism--a new era in Bangladesh. ( 15906726 )
2003
661
Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. ( 12705373 )
2003
662
Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening. ( 12856981 )
2003
663
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? ( 12966531 )
2003
664
Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. ( 12786749 )
2003
665
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
666
Werdnig-Hoffmann disease with congenital hypothyroidism. ( 14738578 )
2003
667
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
668
Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression. ( 14671405 )
2003
669
Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults. ( 14523187 )
2003
670
Newborn screening for congenital hypothyroidism: the Texas experience. ( 14650804 )
2003
671
The utility of FT4 serum in newborns at risk for congenital hypothyroidism (CH). ( 15906723 )
2003
672
Congenital hypothyroidism clinical aspects and late consequences. ( 16444157 )
2003
673
Undetectable levels of tumor necrosis factor-alpha, nitric oxide and inadequate expression of inducible nitric oxide synthase in congenital hypothyroidism. ( 12799216 )
2003
674
Color Doppler ultrasonography: diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. ( 14602741 )
2003
675
Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. ( 14671180 )
2003
676
Behavioural disorders in adolescents with early-treated congenital hypothyroidism. ( 14703898 )
2003
677
Accuracy of ultrasonography to establish the diagnosis and aetiology of permanent primary congenital hypothyroidism. ( 12919160 )
2003
678
Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine? ( 12728088 )
2003
679
Primary congenital hypothyroidism: defects in iodine pathways. ( 14514339 )
2003
680
Congenital hypothyroidism in Iran. ( 14510082 )
2003
681
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
682
Congenital hypothyroidism and early severe hyperbilirubinemia. ( 12800733 )
2003
683
Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns. ( 12727946 )
2003
684
Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables. ( 14651787 )
2003
685
Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement. ( 12864801 )
2003
686
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. ( 12766862 )
2003
687
Newborn screening for congenital hypothyroidism in early discharged infants. ( 15906727 )
2003
688
Newborn screening for congenital hypothyroidism in Khon Kaen University Hospital, the first three years, a preliminary report. ( 14650705 )
2003
689
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. ( 14510914 )
2003
690
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. ( 12656668 )
2003
691
Transient congenital hypothyroidism due to maternal autoimmune thyroid disease. ( 17003010 )
2003
692
A retrospective hospital-based study on congenital hypothyroidism in the Sultanate of Oman. ( 12929888 )
2003
693
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. ( 11916616 )
2002
694
Congenital hypothyroidism: an analysis of persisting deficits and associated factors. ( 12759831 )
2002
695
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. ( 12165566 )
2002
696
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism. ( 11935320 )
2002
697
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. ( 12110737 )
2002
698
[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)]. ( 11857915 )
2002
699
Screening for congenital hypothyroidism in the Islamic Republic of Iran: strategies, obstacles and future perspectives. ( 15603028 )
2002
700
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach. ( 12490071 )
2002
701
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
702
Selenium decreases thyroglobulin concentrations but does not affect the increased thyroxine-to-triiodothyronine ratio in children with congenital hypothyroidism. ( 11238502 )
2001
703
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
704
Precocious puberty in a girl with congenital hypothyroidism receiving continuous L-thyroxine-replacement therapy. ( 11208009 )
2001
705
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. ( 11743520 )
2001
706
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. ( 11415848 )
2001
707
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. ( 11238503 )
2001
708
A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene. ( 11716047 )
2001
709
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. ( 11502839 )
2001
710
Scintigraphic evaluation of primary congenital hypothyroidism: results of the Greek screening program. ( 11357505 )
2001
711
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
712
Longitudinal assessment of L-T4 therapy for congenital hypothyroidism: differences between athyreosis vs ectopia and delayed vs normal bone age. ( 10689639 )
2000
713
The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism. ( 10946871 )
2000
714
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). ( 11061528 )
2000
715
Recent advances in understanding the molecular basis of primary congenital hypothyroidism. ( 10637573 )
2000
716
Vitamin D receptor genotype and bone mineral density in Caucasian children with congenital hypothyroidism. ( 10905383 )
2000
717
Congenital Hypothyroidism ( 25905235 )
2000
718
Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia. ( 12862157 )
2000
719
Pertechnetate scintigraphy in primary congenital hypothyroidism. ( 10319753 )
1999
720
Effect of primary congenital hypothyroidism upon expression of genes mediating murine brain glucose uptake. ( 10231871 )
1999
721
Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia. ( 10411113 )
1999
722
Congenital hypothyroidism: etiologies, diagnosis, and management. ( 10447022 )
1999
723
Thyroxine inversely regulates serum intermediate density lipoprotein levels in children with congenital hypothyroidism. ( 10365575 )
1999
724
Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. ( 10377248 )
1999
725
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? ( 9917489 )
1999
726
Serum lipoproteins and apolipoprotein E in infants with congenital hypothyroidism. ( 10365572 )
1999
727
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? ( 10610498 )
1999
728
Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. ( 10640901 )
1999
729
Etiologic study of primary congenital hypothyroidism. ( 9737121 )
1998
730
Cleidocranial dysplasia: a rare case associated with congenital hypothyroidism and severe neonatal hyperbilirubinemia. ( 9519691 )
1998
731
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
732
Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. ( 9657379 )
1998
733
Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3' splice site. ( 9486973 )
1998
734
Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene. ( 9806481 )
1998
735
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. ( 9590296 )
1998
736
Low growth hormone-binding protein in infants with congenital hypothyroidism. ( 9768678 )
1998
737
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. ( 9329388 )
1997
738
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
739
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. ( 9185526 )
1997
740
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism. ( 9354849 )
1997
741
Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter. ( 9171822 )
1997
742
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. ( 9048917 )
1997
743
Transient congenital hypothyroidism and hyperthyrotropinemia: normal thyroid function and physical development at the ages of 6-14 years. ( 8636368 )
1996
744
Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. ( 8772590 )
1996
745
The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis. ( 8981017 )
1996
746
Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. ( 8981932 )
1996
747
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. ( 8964831 )
1996
748
RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism. ( 7539519 )
1995
749
Bone mineral metabolism and thyroid replacement therapy in congenital hypothyroid infants and young children. ( 7560809 )
1995
750
Childhood IQ measurements in infants with transient congenital hypothyroidism. ( 7586623 )
1995
751
The importance of thyroglobulin levels in monitoring the treatment of congenital hypothyroidism. ( 7649523 )
1995
752
Outcome in three siblings with antibody-mediated transient congenital hypothyroidism. ( 7636655 )
1995
753
Prevalence of permanent primary congenital hypothyroidism in Taiwan. ( 7613262 )
1995
754
[Alpha fetoprotein in congenital hypothyroidism before and during treatment]. ( 7531094 )
1994
755
A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. ( 8027236 )
1994
756
Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ. ( 8013940 )
1994
757
Congenital hypothyroidism: etiology and pathogenesis. ( 7879996 )
1994
758
Transient congenital hypothyroidism due to maternal thyrotrophin binding inhibiting immunoglobulin. ( 8104016 )
1993
759
Effect of short-term hyperthyroxinemia on vitamin D metabolism in congenital hypothyroidism. ( 8406326 )
1993
760
Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. ( 8493172 )
1993
761
Evolution of height and bone age in primary congenital hypothyroidism. ( 8365078 )
1993
762
Influence of treatment on the maturation of the somesthetic pathway in infants with primary congenital hypothyroidism during the first year of life. ( 8356023 )
1993
763
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. ( 8320710 )
1993
764
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]. ( 1595380 )
1992
765
Congenital anomalies concomitant with persistent primary congenital hypothyroidism. ( 1519652 )
1992
766
Congenital hypothyroid dwarfism in a family of giant schnauzers. ( 2061865 )
1991
767
Circulating thyroid antibodies in congenital hypothyroidism. ( 1659767 )
1991
768
Congenital hypothyroid dwarfism in a family of giant schnauzers. ( 1748985 )
1991
769
Radionuclide imaging in primary permanent congenital hypothyroidism. ( 1657485 )
1991
770
The value of neonatal serum thyroglobulin determinations in the follow-up of patients with congenital hypothyroidism. ( 2239271 )
1990
771
Thyroid hormones influences sex steroid binding protein levels in infancy: study in congenital hypothyroidism. ( 2229277 )
1990
772
Calcitonin and bone mass status in congenital hypothyroidism. ( 2108791 )
1990
773
Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. ( 2733742 )
1989
774
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. ( 2787833 )
1989
775
Congenital hypothyroidism, spiky hair, and cleft palate. ( 2918525 )
1989
776
Association of congenital hypothyroidism with congenital hypertrophic pyloric stenosis. ( 3150224 )
1988
777
Transient congenital hypothyroidism after topical iodine in pregnancy and lactation. ( 3566323 )
1987
778
Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment. ( 3451231 )
1987
779
Thyroid ectopia in a congenital hypothyroid infant. ( 3742922 )
1986
780
Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. ( 2993571 )
1985
781
Congenital hypothyroidism caused by defective iodide transport. ( 3998954 )
1985
782
Neonatal hypothyroidism screening: status of patients at 6 years of age. New England Congenital Hypothyroidism Collaborative. ( 4067750 )
1985
783
Transient congenital hypothyroidism in an infant with congenital nephrosis of Finnish type. ( 6858680 )
1983
784
Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism. ( 6808051 )
1982
785
Pitfalls in screening for neonatal hypothyroidism. Report of the New England Regional Screening Program and the New England Congenital Hypothyroidism Collaborative. ( 7088626 )
1982
786
Congenital hypothyroidism and Klinefelter's syndrome. ( 7205914 )
1980
787
Transient congenital hypothyroidism after amniofetography. ( 7449796 )
1980
788
Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria. ( 7204885 )
1980
789
Congenital hypothyroidism in Klinefelter's syndrome. ( 537016 )
1979
790
Congenital hypothyroid gigantism: a new diencephalic syndrome? ( 589083 )
1977
791
Bromide partition test in the evaluation of the blood-cerebrospinal barrier in children with congenital hypothyroidism and central nervous system disease. ( 1224969 )
1975
792
Familial thyroxine-binding globulin deficiency in a patient with congenital hypothyroidism. ( 805043 )
1975
793
Clinical kernicterus and congenital hypothyroidism. ( 13493800 )
1958