105 related articles for article (PubMed ID: 12593729)
1. Congenital isolated central hypothyroidism caused by a "hot spot" mutation in the thyrotropin-beta gene.
McDermott MT; Haugen BR; Black JN; Wood WM; Gordon DF; Ridgway EC
Thyroid; 2002 Dec; 12(12):1141-6. PubMed ID: 12593729
[TBL] [Abstract][Full Text] [Related]
2. The C105fs114X is the prevalent thyrotropin beta-subunit gene mutation in Argentinean patients with congenital central hypothyroidism.
Domené HM; Gruñeiro-Papendieck L; Chiesa A; Iorcansky S; Herzovich VC; Papazian R; Forclaz V; Prieto L; Sansó G; Scaglia P; Bre M; Chamoux A; Heinrich JJ
Horm Res; 2004; 61(1):41-6. PubMed ID: 14646401
[TBL] [Abstract][Full Text] [Related]
3. 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.
Sertedaki A; Papadimitriou A; Voutetakis A; Dracopoulou M; Maniati-Christidi M; Dacou-Voutetakis C
Pediatr Res; 2002 Dec; 52(6):935-41. PubMed ID: 12438673
[TBL] [Abstract][Full Text] [Related]
4. Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina.
Deladoëy J; Vuissoz JM; Domené HM; Malik N; Gruneiro-Papendieck L; Chiesa A; Heinrich JJ; Mullis PE
Thyroid; 2003 Jun; 13(6):553-9. PubMed ID: 12930599
[TBL] [Abstract][Full Text] [Related]
5. Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.
Heinrichs C; Parma J; Scherberg NH; Delange F; Van Vliet G; Duprez L; Bourdoux P; Bergmann P; Vassart G; Refetoff S
Thyroid; 2000 May; 10(5):387-91. PubMed ID: 10884185
[TBL] [Abstract][Full Text] [Related]
6. Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
Borck G; Topaloglu AK; Korsch E; Martiné U; Wildhardt G; Onenli-Mungan N; Yuksel B; Aumann U; Koch G; Ozer G; Pfäffle R; Scherberg NH; Refetoff S; Pohlenz J
J Clin Endocrinol Metab; 2004 Aug; 89(8):4136-41. PubMed ID: 15292359
[TBL] [Abstract][Full Text] [Related]
7. Hypothyroidism in siblings due to a homozygous mutation of the TSH-beta subunit gene.
Felner EI; Dickson BA; White PC
J Pediatr Endocrinol Metab; 2004 Apr; 17(4):669-72. PubMed ID: 15198300
[TBL] [Abstract][Full Text] [Related]
8. Novel TSHbeta subunit gene mutation causing congenital central hypothyroidism in a newborn male.
Morales AE; Shi JD; Wang CY; She JX; Muir A
J Pediatr Endocrinol Metab; 2004 Mar; 17(3):355-9. PubMed ID: 15112912
[TBL] [Abstract][Full Text] [Related]
9. 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.
Hermanns P; Couch R; Leonard N; Klotz C; Pohlenz J
Horm Res Paediatr; 2014; 82(3):201-5. PubMed ID: 25012771
[TBL] [Abstract][Full Text] [Related]
10. Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.
Doeker BM; Pfäffle RW; Pohlenz J; Andler W
J Clin Endocrinol Metab; 1998 May; 83(5):1762-5. PubMed ID: 9589689
[TBL] [Abstract][Full Text] [Related]
11. Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe.
Karges B; LeHeup B; Schoenle E; Castro-Correia C; Fontoura M; Pfäffle R; Andler W; Debatin KM; Karges W
Horm Res; 2004; 62(3):149-55. PubMed ID: 15297803
[TBL] [Abstract][Full Text] [Related]
12. A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
Rivolta CM; Moya CM; Gutnisky VJ; Varela V; Miralles-García JM; González-Sarmiento R; Targovnik HM
J Clin Endocrinol Metab; 2005 Jun; 90(6):3766-70. PubMed ID: 15769978
[TBL] [Abstract][Full Text] [Related]
13. New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening.
Ramos HE; Labedan I; Carré A; Castanet M; Guemas I; Tron E; Madhi F; Delacourt C; Maciel RM; Polak M
Thyroid; 2010 Jun; 20(6):639-45. PubMed ID: 20553196
[TBL] [Abstract][Full Text] [Related]
14. A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
Pappa T; Johannesen J; Scherberg N; Torrent M; Dumitrescu A; Refetoff S
Thyroid; 2015 Aug; 25(8):869-76. PubMed ID: 25950606
[TBL] [Abstract][Full Text] [Related]
15. Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
Baquedano MS; Ciaccio M; Dujovne N; Herzovich V; Longueira Y; Warman DM; Rivarola MA; Belgorosky A
J Clin Endocrinol Metab; 2010 Sep; 95(9):E98-103. PubMed ID: 20534762
[TBL] [Abstract][Full Text] [Related]
16. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ.
Ebrhim RS; Bruellman RJ; Watanabe Y; Creech MK; Abdullah MA; Dumitrescu AM; Refetoff S; Weiss RE
Horm Res Paediatr; 2019; 92(6):390-394. PubMed ID: 31914441
[TBL] [Abstract][Full Text] [Related]
17. Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.
Brumm H; Pfeufer A; Biebermann H; Schnabel D; Deiss D; Grüters A
J Clin Endocrinol Metab; 2002 Oct; 87(10):4811-6. PubMed ID: 12364478
[TBL] [Abstract][Full Text] [Related]
18. Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature.
Partsch CJ; Riepe FG; Krone N; Sippell WG; Pohlenz J
Exp Clin Endocrinol Diabetes; 2006 May; 114(5):227-34. PubMed ID: 16804796
[TBL] [Abstract][Full Text] [Related]
19. Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.
Özhan B; Boz Anlaş Ö; Sarıkepe B; Albuz B; Semerci Gündüz N
J Clin Res Pediatr Endocrinol; 2017 Sep; 9(3):278-282. PubMed ID: 28515030
[TBL] [Abstract][Full Text] [Related]
20. Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
Nicholas AK; Jaleel S; Lyons G; Schoenmakers E; Dattani MT; Crowne E; Bernhard B; Kirk J; Roche EF; Chatterjee VK; Schoenmakers N
Clin Endocrinol (Oxf); 2017 Mar; 86(3):410-418. PubMed ID: 27362444
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
