BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 12930599)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.
    Vuissoz JM; Deladoëy J; Buyukgebiz A; Cemeroglu P; Gex G; Gallati S; Mullis PE
    J Clin Endocrinol Metab; 2001 Sep; 86(9):4468-71. PubMed ID: 11549695
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
    Tiosano D; Pannain S; Vassart G; Parma J; Gershoni-Baruch R; Mandel H; Lotan R; Zaharan Y; Pery M; Weiss RE; Refetoff S; Hochberg Z
    Thyroid; 1999 Sep; 9(9):887-94. PubMed ID: 10524567
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.
    Mori R; Sawai T; Kinoshita E; Baba T; Matsumoto T; Yoshimoto M; Tsuji Y; Satake Y; Sawada K
    Jinrui Idengaku Zasshi; 1991 Dec; 36(4):313-6. PubMed ID: 1811097
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
    Tonacchera M; Agretti P; Pinchera A; Rosellini V; Perri A; Collecchi P; Vitti P; Chiovato L
    J Clin Endocrinol Metab; 2000 Mar; 85(3):1001-8. PubMed ID: 10720030
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.
    Kalveram L; Kleinau G; Szymańska K; Scheerer P; Rivero-Müller A; Grüters-Kieslich A; Biebermann H
    Int J Mol Sci; 2019 Nov; 20(22):. PubMed ID: 31703413
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.