| 1 | Functional characterization of four novel PAX8 mutatio ns causing congenital hypothyroidism: new evidence for haploinsufficiency as a d isease mechanism. (22898500) | Narumi S.... Hasegawa T. | 2012 | PAX8 |
| 2 | A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion . (21367925) | Hulur I.... Grasberger H. | 2011 | DUOXA1 |
| 3 | Genetics and phenomics of hypothyroidism and goiter d ue to NIS mutations. (20153805) | Spitzweg C.... Morris J.C. | 2010 | SLC5A5 |
| 4 | Two novel mutations of the TSH-beta subunit gene unde rlying congenital central hypothyroidism undetectable in neonatal TSH screening . (20534762) | Baquedano M.S.... Belgorosky A. | 2010 | TSHB |
| 5 | Reduced expression of uncoupling protein 2 in adipose tissue in patients with hypothyroidism. (20427509) | Gjedde S.... Pedersen S.B. | 2010 | UCP2 |
| 6 | Sexual dysfunction is frequent in premenopausal women with diabetes, obesity, and hypothyroidism, and correlates with markers of inc reased cardiovascular risk. A preliminary report. (19453923) | Veronelli A.... Pontiroli A.E. | 2009 | SERPINE1, SELP, SELE |
| 7 | Factors related to clinical hypothyroid severity in t hyroid cancer patients after thyroid hormone withdrawal. (19072673) | Huang S.C.... Chang W.D. | 2009 | INS |
| 8 | Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia. (18727713) | De Marco G.... Tonacchera M. | 2009 | TSHR |
| 9 | NIS mRNA expression level in resected thyroid tissue as a marker of postoperative hypothyroidism after subtotal thyroidectomy in patients with Graves' disease. (18187871) | Goto A.... Onji M. | 2008 | TPO, TSHR, SLC5A5 |
| 10 | Risk factors for cardiovascular disease in patients with subclinical hypothyroidism. (18484201) | Toruner F.... Arslan M. | 2008 | CRP, APOB, INS |
| 11 | Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. (17437516) | Tonacchera M.... Pinchera A. | 2007 | PAX8 |
| 12 | High-dose taurine supplementation increases serum par aoxonase and arylesterase activities in experimental hypothyroidism. (17645625) | Dirican M.... SarandAPl E. | 2007 | PON1 |
| 13 | Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. (17468187) | Al Taji E.... Krude H. | 2007 | PAX8, NKX2-1 |
| 14 | W546X mutation of the thyrotropin receptor causes subclinical hypothyroidism in various clinical settings. (17524032) | Locantore P.... Ludgate M. | 2007 | TSHR |
| 15 | Cardiovascular risk factors in patients with subclinical hypothyroidism (18050969) | PesiA8 M.... RadenkoviA8 S. | 2007 | TPO |
| 16 | A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. (16882747) | Baris I.... Battaloglu E. | 2006 | FOXE1 |
| 17 | Genetics of congenital hypothyroidism. (15863666) | Park S.M.... Chatterjee V.K. | 2005 | TPO, PAX8, NKX2-1 |
| 18 | Insulin sensitivity and counter-regulatory hormones in hypothyroidism and during thyroid hormone replacement therapy. (16207130) | StanickA! S.... Zamrazil V. | 2005 | INS |
| 19 | A mouse model demonstrates a multigenic origin of congenital hypothyroidism. (16150900) | Amendola E.... de Felice M. | 2005 | PAX8 |
| 20 | Hypothyroidism might be related to breast cancer in post-menopausal women. (16356089) | Kuijpens J.L.... Coebergh J.W. | 2005 | TPO |
| 21 | Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. (14725684) | Park S.-M.... Chatterjee V.K.K. | 2004 | TSHR |
| 22 | Lipids profile in a group of hypothyroid patients vs. treated hypothyroid patients (15832973) | GA8leA9anu C.... Zbranca E. | 2004 | LPL |
| 23 | Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. (15320969) | Tonacchera M.... Pinchera A. | 2004 | TTF2, FOXE1 |
| 24 | Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism. (15171721) | Baryshev M.... Mkrtchian S. | 2004 | CALR, P4HB, XBP1 |
| 25 | Steroids, sex hormone-binding globulin, homocysteine, selected hormones and markers of lipid and carbohydrate metabolism in patients with severe hypothyroidism and their changes following thyroid hormone supplementation. (12705335) | BicA-kovA! M.... Vondra K. | 2003 | PRL, SHBG |
| 26 | A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. (12656668) | Pohlenz J.... Hiort O. | 2003 | GNAS |
| 27 | Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism. (11935320) | Ahlbom B.E.... Wadelius C. | 2002 | TG |
| 28 | Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy. (12428064) | Siciliano G.... Murri L. | 2002 | TFAM |
| 29 | Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. (11788671) | Pohlenz J.... Refetoff S. | 2002 | TSHB |
| 30 | Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene. (11484898) | Targovnik H.M.... Medeiros-Neto G. | 2001 | TG |
| 31 | Early changes in parameters of bone and mineral metabolism during therapy for hyper- and hypothyroidism. (11428712) | Sabuncu T.... Hatemi H. | 2001 | ALPP |
| 32 | Subclinical hypothyroidism is an independent risk factor for atherosclerosis and myocardial infarction in elderly women: the Rotterdam Study. (10681281) | Hak A.E.... Witteman J.C. | 2000 | TPO |
| 33 | Sub-biochemical hypothyroidism: an exaggerated thyroid stimulating hormone response to thyrotrophin releasing hormone. (10999119) | Sheth J.J.... Vaidya R.A. | 1999 | TRH |
| 34 | Serum creatine kinase levels in overt and subclinical hypothyroidism. (9848718) | Beyer I.W.... Fuss M.J. | 1998 | CHKB |
| 35 | Frequency of newly detected hypothyroidism in lipid clinics (10422502) | SzabA^ M.... MA!lek Z. | 1998 | LDLR |
| 36 | A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases. (9707574) | Kim P.S.... Arvan P. | 1998 | TG |
| 37 | Thyroid hormones modulate serum leptin levels: observations in thyrotoxic and hypothyroid women. (9920361) | Diekman M.J.... Wiersinga W.M. | 1998 | LSL |
| 38 | Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. (9657379) | Levy O.... Carrasco N. | 1998 | SLC5A5 |
| 39 | Neonatal transient hypothyroidism: aetiological study. Italian Collaborative Study on Transient Hypothyroidism. (9797631) | Weber G.... Chiumello G. | 1998 | TPO |
| 40 | Lipoprotein(a)--a risk factor for coronary sclerosis in patients with hypothyroidism (9750476) | Oravec S.... Dieplinger H. | 1998 | LDLR, APOB |
| 41 | Episodic variations of prolactin, thyroid-stimulating hormone, luteinizing hormone, melatonin and cortisol in infertile women with subclinical hypothyroidism. (9194636) | Bals-Pratsch M.... Nieschlag E. | 1997 | PRL, TRH |
| 42 | Bone mass, bone turnover and body composition in former hypothyroid patients receiving replacement therapy. (8766939) | Langdahl B.L.... Charles P. | 1996 | CD36, BGLAP |
| 43 | Effect of acute desmopressin and of long-term thyroxi ne replacement on haemostasis in hypothyroidism. (7750191) | Erfurth E.M.... Lethagen S.R. | 1995 | VWF, F8 |
| 44 | Measurement of thyroglobulin in newborn screening specimens from normal and hypothyroid infants. (7621572) | Mitchell M.L.... Hermos R.J. | 1995 | TG |
| 45 | A case of idiopathic hypoparathyroidism associated w ith primary hypothyroidism and diabetes mellitus (7958110) | Sumida Y.... Shima T. | 1994 | INS |
| 46 | Adrenergic regulation of lipolysis in fat cells from hyperthyroid and hypothyroid patients. (8157718) | Wahrenberg H.... Arner P. | 1994 | ADCY10 |
| 47 | Thyroid replacement therapy and its influence on post heparin plasma lipases and apolipoprotein-B metabolism in hypothyroidism. (8496312) | Packard C.J.... Taskinen M.R. | 1993 | LDLR |
| 48 | Expression of tumor necrosis factor and c-fos genes in peritoneal macrophages of hypothyroid mice. (8491516) | Liu W.K. | 1993 | FOS |
| 49 | Thyroid hormones influences sex steroid binding protein levels in infancy: study in congenital hypothyroidism. (2229277) | Leger J.... Czernichow P. | 1990 | SHBG |
| 50 | The activity of cholesteryl ester transfer protein is decreased in hypothyroidism: a possible contribution to alterations in high-density lipoproteins. (2127747) | Dullaart R.P.... Doorenbos H. | 1990 | APOA1, CETP |
