180 related articles for article (PubMed ID: 34946811)
1. 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]
2. 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]
3. 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]
4. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
Al Taji E; Biebermann H; Límanová Z; Hníková O; Zikmund J; Dame C; Grüters A; Lebl J; Krude H
Eur J Endocrinol; 2007 May; 156(5):521-9. PubMed ID: 17468187
[TBL] [Abstract][Full Text] [Related]
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; 28(7-8):735-43. PubMed ID: 25720050
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Liu S; Wang X; Zou H; Ge Y; Wang F; Wang Y; Yan S; Xia H; Xing M
Oncotarget; 2017 Jan; 8(5):8707-8716. PubMed ID: 28060725
[TBL] [Abstract][Full Text] [Related]
8. A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.
Zou H; Chai J; Liu S; Zang H; Yu X; Tian L; Li H; Han B
Int J Clin Exp Pathol; 2015; 8(9):11434-9. PubMed ID: 26617871
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N; Baz-Redón N; Fernández-Cancio M; Clemente M; Campos-Martorell A; Jaimes N; Antolín M; Garcia-Arumí E; Blasco-Pérez L; Paramonov I; Mogas E; Soler-Colomer L; Yeste D
J Clin Endocrinol Metab; 2021 Jan; 106(1):e152-e170. PubMed ID: 33029631
[TBL] [Abstract][Full Text] [Related]
10. Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
Narumi S; Araki S; Hori N; Muroya K; Yamamoto Y; Asakura Y; Adachi M; Hasegawa T
Eur J Endocrinol; 2012 Nov; 167(5):625-32. PubMed ID: 22898500
[TBL] [Abstract][Full Text] [Related]
11. 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; 14():69. PubMed ID: 25146893
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.
Qian F; Li GY; Wu XJ; Jia Q; Lyu GT; Wang ML; Wang J
Chin Med J (Engl); 2019 Jun; 132(11):1322-1327. PubMed ID: 30888984
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.
Li M; Wang F; Wang X; Zang Y; Liu W; Wang F; Zhang L; Tang Q; Liu S; Zhao D
Endokrynol Pol; 2020; 71(2):153-159. PubMed ID: 32096550
[TBL] [Abstract][Full Text] [Related]
16. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
Santos-Silva R; Rosário M; Grangeia A; Costa C; Castro-Correia C; Alonso I; Leão M; Fontoura M
J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1265-1273. PubMed ID: 31430255
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.
Mahjoubi F; Mohammadi MM; Montazeri M; Aminii M; Hashemipour M
Arq Bras Endocrinol Metabol; 2010 Aug; 54(6):555-9. PubMed ID: 20857061
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.
Carvalho A; Hermanns P; Rodrigues AL; Sousa I; Anselmo J; Bikker H; Cabral R; Pereira-Duarte C; Mota-Vieira L; Pohlenz J
Thyroid; 2013 Sep; 23(9):1074-8. PubMed ID: 23647375
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]