302 related articles for article (PubMed ID: 35272499)
1. Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
Larrivée-Vanier S; Jean-Louis M; Magne F; Bui H; Rouleau GA; Spiegelman D; Samuels ME; Kibar Z; Van Vliet G; Deladoëy J
Thyroid; 2022 May; 32(5):486-495. PubMed ID: 35272499
[No Abstract] [Full Text] [Related]
2. Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.
Magne F; Ge B; Larrivée-Vanier S; Van Vliet G; Samuels ME; Pastinen T; Deladoëy J
Thyroid; 2016 Jun; 26(6):852-9. PubMed ID: 27125219
[TBL] [Abstract][Full Text] [Related]
3. Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis.
Magne F; Serpa R; Van Vliet G; Samuels ME; Deladoëy J
Horm Res Paediatr; 2015; 83(2):79-85. PubMed ID: 25277881
[TBL] [Abstract][Full Text] [Related]
4. The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.
Zhang RJ; Yang GL; Cheng F; Sun F; Fang Y; Zhang CX; Wang Z; Wu FY; Zhang JX; Zhao SX; Liang J; Song HD
Clin Endocrinol (Oxf); 2022 Apr; 96(4):617-626. PubMed ID: 34374102
[TBL] [Abstract][Full Text] [Related]
5. Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
Kühnen P; Turan S; Fröhler S; Güran T; Abali S; Biebermann H; Bereket A; Grüters A; Chen W; Krude H
J Clin Endocrinol Metab; 2014 Jan; 99(1):E169-76. PubMed ID: 24248179
[TBL] [Abstract][Full Text] [Related]
6. Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
Stoupa A; Chaabane R; Guériouz M; Raynaud-Ravni C; Nitschke P; Bole-Feysot C; Mnif M; Ammar Keskes L; Hachicha M; Belguith N; Polak M; Carré A
Thyroid; 2018 Jul; 28(7):941-944. PubMed ID: 29790453
[TBL] [Abstract][Full Text] [Related]
7. Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Choukair D; Eberle B; Vick P; Hermanns P; Weiss B; Paramasivam N; Schlesner M; Lornsen K; Roeth R; Klutmann C; Kreis J; Hoffmann GF; Pohlenz J; Rappold GA; Bettendorf M
Horm Res Paediatr; 2020; 93(1):16-29. PubMed ID: 32428920
[TBL] [Abstract][Full Text] [Related]
8. Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.
Long W; Guo F; Yao R; Wang Y; Wang H; Yu B; Xue P
Front Endocrinol (Lausanne); 2021; 12():705773. PubMed ID: 34539567
[TBL] [Abstract][Full Text] [Related]
9. 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; 102(11):4060-4071. PubMed ID: 28666341
[TBL] [Abstract][Full Text] [Related]
10.
Wang F; Zang Y; Li M; Liu W; Wang Y; Yu X; Li H; Wang F; Liu S
Front Endocrinol (Lausanne); 2020; 11():237. PubMed ID: 32425884
[No Abstract] [Full Text] [Related]
11. Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
Vick P; Eberle B; Choukair D; Weiss B; Roeth R; Schneider I; Paramasivam N; Bettendorf M; Rappold GA
Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946811
[TBL] [Abstract][Full Text] [Related]
12. Genetics of Gland-
Zdraveska N; Kocova M; Nicholas AK; Anastasovska V; Schoenmakers N
Front Endocrinol (Lausanne); 2020; 11():413. PubMed ID: 32765423
[TBL] [Abstract][Full Text] [Related]
13. Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.
Li L; Li X; Wang X; Han M; Zhao D; Wang F; Liu S
Endocrine; 2023 Jan; 79(1):125-134. PubMed ID: 36125728
[TBL] [Abstract][Full Text] [Related]
14. Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec.
Deladoëy J; Bélanger N; Van Vliet G
J Clin Endocrinol Metab; 2007 Aug; 92(8):3158-61. PubMed ID: 17504897
[TBL] [Abstract][Full Text] [Related]
15. Genetics and management of congenital hypothyroidism.
Persani L; Rurale G; de Filippis T; Galazzi E; Muzza M; Fugazzola L
Best Pract Res Clin Endocrinol Metab; 2018 Aug; 32(4):387-396. PubMed ID: 30086865
[TBL] [Abstract][Full Text] [Related]
16. Genetic Evaluation of Congenital Hypothyroidism with Gland
Shin JH; Kim HY; Kim YM; Lee H; Bae MH; Park KH; Lee SM; Kwak MJ
Ann Clin Lab Sci; 2021 Jan; 51(1):73-81. PubMed ID: 33653783
[TBL] [Abstract][Full Text] [Related]
17. Disorders of thyroid morphogenesis.
Abu-Khudir R; Larrivée-Vanier S; Wasserman JD; Deladoëy J
Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):143-159. PubMed ID: 28648504
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E; Miliordos K; Spiliotis B
Hormones (Athens); 2021 Jun; 20(2):225-236. PubMed ID: 33400193
[TBL] [Abstract][Full Text] [Related]
20. New genetics in congenital hypothyroidism.
Stoupa A; Kariyawasam D; Muzza M; de Filippis T; Fugazzola L; Polak M; Persani L; Carré A
Endocrine; 2021 Mar; 71(3):696-705. PubMed ID: 33650047
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
