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Journal Abstract Search

329 related items for PubMed ID: 24248179

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  • 2. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
    Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J.
    J Clin Endocrinol Metab; 2006 Jul; 91(7):2678-81. PubMed ID: 16684826
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  • 7. Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
    Banghova K, Al Taji E, Cinek O, Novotna D, Pourova R, Zapletalova J, Hnikova O, Lebl J.
    Eur J Pediatr; 2008 Jul; 167(7):777-83. PubMed ID: 17876604
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  • 8. 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; 28(7-8):735-43. PubMed ID: 25720050
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  • 14. Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism.
    Khatami M, Heidari MM, Tabesh F, Ordooei M, Salehifar Z.
    J Pediatr Endocrinol Metab; 2017 Aug 28; 30(8):857-862. PubMed ID: 28749785
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  • 15. 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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  • 16. 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 22; 28(7-8):777-84. PubMed ID: 25153578
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  • 17. DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
    Kizys MML, Louzada RA, Mitne-Neto M, Jara JR, Furuzawa GK, de Carvalho DP, Dias-da-Silva MR, Nesi-França S, Dupuy C, Maciel RMB.
    J Clin Endocrinol Metab; 2017 Nov 01; 102(11):4060-4071. PubMed ID: 28666341
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