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5. Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group. Ozon ZA; Alikasifoglu A; Kandemir N; Aydin B; Gonc EN; Karaosmanoglu B; Celik NB; Eroglu-Ertugrul NG; Taskiran EZ; Haliloglu G; Oguz KK; Kiper PO; Yalnizoglu D; Utine GE; Alikasifoglu M Pediatr Diabetes; 2020 Nov; 21(7):1176-1182. PubMed ID: 32738013 [TBL] [Abstract][Full Text] [Related]
6. DNAJC3 mutation in Thai familial type 2 diabetes mellitus. Kulanuwat S; Tangjittipokin W; Jungtrakoon P; Chanprasert C; Sujjitjoon J; Binnima N; Yenchitsomanus PT; Plengvidhya N Int J Mol Med; 2018 Aug; 42(2):1064-1073. PubMed ID: 29767246 [TBL] [Abstract][Full Text] [Related]
7. Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation. Ocansey S; Pullen D; Atkinson P; Clarke A; Hadonou M; Crosby C; Short J; Lloyd IC; Smedley D; Assunta A; Shah P; McEntagart M; Clin Dysmorphol; 2022 Jan; 31(1):11-17. PubMed ID: 34654017 [TBL] [Abstract][Full Text] [Related]
8. The role of GLIS3 in thyroid disease as part of a multisystem disorder. Dimitri P Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):175-182. PubMed ID: 28648506 [TBL] [Abstract][Full Text] [Related]
9. Extended clinical features associated with novel Glis3 mutation: a case report. Alghamdi KA; Alsaedi AB; Aljasser A; Altawil A; Kamal NM BMC Endocr Disord; 2017 Mar; 17(1):14. PubMed ID: 28253873 [TBL] [Abstract][Full Text] [Related]
11. Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations in GLIS3 gene. Perdas E; Gadzalska K; Hrytsiuk I; Borowiec M; Fendler W; Młynarski W Pediatr Diabetes; 2022 Sep; 23(6):668-674. PubMed ID: 35394098 [TBL] [Abstract][Full Text] [Related]
12. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Senée V; Chelala C; Duchatelet S; Feng D; Blanc H; Cossec JC; Charon C; Nicolino M; Boileau P; Cavener DR; Bougnères P; Taha D; Julier C Nat Genet; 2006 Jun; 38(6):682-7. PubMed ID: 16715098 [TBL] [Abstract][Full Text] [Related]
13. Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. Pardo V; Rubio IG; Knobel M; Aguiar-Oliveira MH; Santos MM; Gomes SA; Oliveira CR; Targovnik HM; Medeiros-Neto G Thyroid; 2008 Jul; 18(7):783-6. PubMed ID: 18631008 [TBL] [Abstract][Full Text] [Related]
14. Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene. Targovnik HM; Souchon PF; Machiavelli GA; Salmon-Musial AS; Mauran PL; Sulmont V; Doco-Fenzy M; Rivolta CM Clin Endocrinol (Oxf); 2010 May; 72(5):716-8. PubMed ID: 20447071 [No Abstract] [Full Text] [Related]
15. 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]
16. Expanding the Clinical Spectrum Associated With GLIS3 Mutations. Dimitri P; Habeb AM; Gurbuz F; Millward A; Wallis S; Moussa K; Akcay T; Taha D; Hogue J; Slavotinek A; Wales JK; Shetty A; Hawkes D; Hattersley AT; Ellard S; De Franco E J Clin Endocrinol Metab; 2015 Oct; 100(10):E1362-9. PubMed ID: 26259131 [TBL] [Abstract][Full Text] [Related]
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18. An Activating Mutation in Velayos T; Martínez R; Alonso M; Garcia-Etxebarria K; Aguayo A; Camarero C; Urrutia I; Martínez de LaPiscina I; Barrio R; Santin I; Castaño L Diabetes; 2017 Apr; 66(4):1022-1029. PubMed ID: 28073828 [TBL] [Abstract][Full Text] [Related]
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20. Diabetes in the family of subjects with congenital hypothyroidism. Menzinger G; Fallucca F; Tamburrano G; Pinchera A; Javicoli M; Andreani D Folia Endocrinol; 1970 Oct; 23(5):497-503. PubMed ID: 5537820 [No Abstract] [Full Text] [Related] [Next] [New Search]