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Journal Abstract Search

277 related items for PubMed ID: 25153578

  • 1. 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.
    Cerqueira TL, Carré A, Chevrier L, Szinnai G, Tron E, Léger J, Cabrol S, Queinnec C, De Roux N, Castanet M, Polak M, Ramos HE.
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):777-84. PubMed ID: 25153578
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  • 2. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
    Ramos HE, Carré A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Léger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M.
    Eur J Endocrinol; 2014 Oct; 171(4):499-507. PubMed ID: 25214233
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  • 3. 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; 113(10):582-5. PubMed ID: 16320156
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  • 4. 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.
    Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F.
    BMC Endocr Disord; 2014 Aug 22; 14():69. PubMed ID: 25146893
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  • 5. Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.
    Kumorowicz-Czoch M, Madetko-Talowska A, Dudek A, Tylek-Lemanska D.
    J Pediatr Endocrinol Metab; 2015 Jul 22; 28(7-8):735-43. PubMed ID: 25720050
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  • 6. 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.
    Lado-Abeal J, Castro-Piedras I, Palos-Paz F, Labarta-Aizpún JI, Albero-Gamboa R.
    Thyroid; 2011 Feb 22; 21(2):103-9. PubMed ID: 21186955
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  • 13. 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 22; 25(3):292-9. PubMed ID: 25557138
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  • 14. Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
    De Marco G, Agretti P, Camilot M, Teofoli F, Tatò L, Vitti P, Pinchera A, Tonacchera M.
    Clin Endocrinol (Oxf); 2009 Feb 22; 70(2):335-8. PubMed ID: 18727713
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  • 15. Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.
    Zdraveska N, Kocova M, Nicholas AK, Anastasovska V, Schoenmakers N.
    Front Endocrinol (Lausanne); 2020 Feb 22; 11():413. PubMed ID: 32765423
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  • 16. 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 22; 16(12):1303-9. PubMed ID: 17199441
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  • 17. TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
    Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T.
    J Clin Endocrinol Metab; 2009 Apr 22; 94(4):1317-23. PubMed ID: 19158199
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  • 19. The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.
    Krude H, Biebermann H, Göpel W, Grüters A.
    Exp Clin Endocrinol Diabetes; 1996 Apr 22; 104 Suppl 4():117-20. PubMed ID: 8981017
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