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23. 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; 86(8):3962-7. PubMed ID: 11502839 [TBL] [Abstract][Full Text] [Related]
24. 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 [TBL] [Abstract][Full Text] [Related]
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26. 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 [TBL] [Abstract][Full Text] [Related]
27. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. Cangul H; Aycan Z; Saglam H; Forman JR; Cetinkaya S; Tarim O; Bober E; Cesur Y; Kurtoglu S; Darendeliler F; Bas V; Eren E; Demir K; Kiraz A; Aydin BK; Karthikeyan A; Kendall M; Boelaert K; Shaw NJ; Kirk J; Högler W; Barrett TG; Maher ER J Pediatr Endocrinol Metab; 2012; 25(5-6):419-26. PubMed ID: 22876533 [TBL] [Abstract][Full Text] [Related]
28. [Molecular-genetic aspects of congenital hypothyroidism]. Lacka K; Ogrodowicz A Med Wieku Rozwoj; 2004; 8(3 Pt 2):678-89. PubMed ID: 15858240 [TBL] [Abstract][Full Text] [Related]
29. 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]
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39. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. Biebermann H; Schöneberg T; Krude H; Schultz G; Gudermann T; Grüters A J Clin Endocrinol Metab; 1997 Oct; 82(10):3471-80. PubMed ID: 9329388 [TBL] [Abstract][Full Text] [Related]
40. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. Camilot M; Teofoli F; Gandini A; Franceschi R; Rapa A; Corrias A; Bona G; Radetti G; Tatò L Clin Endocrinol (Oxf); 2005 Aug; 63(2):146-51. PubMed ID: 16060907 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]