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Journal Abstract Search

240 related items for PubMed ID: 11716047

  • 1. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
    Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P.
    Thyroid; 2001 Oct; 11(10):977-80. PubMed ID: 11716047
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  • 2. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
    Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C.
    J Clin Invest; 1997 Jun 15; 99(12):3018-24. PubMed ID: 9185526
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  • 3. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
    Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK.
    Clin Endocrinol (Oxf); 2004 Feb 15; 60(2):220-7. PubMed ID: 14725684
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  • 4. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
    Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P.
    J Clin Endocrinol Metab; 2001 Aug 15; 86(8):3962-7. PubMed ID: 11502839
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  • 5. 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 15; 85(3):1001-8. PubMed ID: 10720030
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  • 6. A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
    Jeziorowska A, Pniewska-Siark B, Brzeziańska E, Pastuszak-Lewandoska D, Lewiński A.
    Thyroid; 2006 Dec 15; 16(12):1303-9. PubMed ID: 17199441
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  • 7. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
    Nogueira CR, Nguyen LQ, Coelho-Neto JR, Arseven OK, Jameson JL, Kopp P, Medeiros-Neto GA.
    Thyroid; 1999 Jun 15; 9(6):523-9. PubMed ID: 10411113
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  • 8. Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
    Richter-Unruh A, Hauffa BP, Pfarr N, Pohlenz J.
    Thyroid; 2004 Nov 15; 14(11):971-4. PubMed ID: 15671778
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  • 9. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).
    Fricke-Otto S, Pfarr N, Mühlenberg R, Pohlenz J.
    Exp Clin Endocrinol Diabetes; 2005 Dec 15; 113(10):582-5. PubMed ID: 16320156
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  • 15. Neonatal thyroid disorders.
    Grüters A, Biebermann H, Krude H.
    Horm Res; 2003 Dec 15; 59 Suppl 1():24-9. PubMed ID: 12566717
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  • 16. Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.
    Ramos HE, Nesi-França S, Boldarine VT, Pereira RM, Chiamolera MI, Camacho CP, Graf H, de Lacerda L, Carvalho GA, Maciel RM.
    Thyroid; 2009 Jan 15; 19(1):61-8. PubMed ID: 18976153
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  • 17. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
    Tenenbaum-Rakover Y, Almashanu S, Hess O, Admoni O, Hag-Dahood Mahameed A, Schwartz N, Allon-Shalev S, Bercovich D, Refetoff S.
    Thyroid; 2015 Mar 15; 25(3):292-9. PubMed ID: 25557138
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  • 18. 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 15; 9(9):887-94. PubMed ID: 10524567
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