155 related articles for article (PubMed ID: 37204622)
1. Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Yue X; Luo Y; Wang J; Huang D
Mol Biotechnol; 2024 Mar; 66(3):467-474. PubMed ID: 37204622
[TBL] [Abstract][Full Text] [Related]
2. GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škorić-Milosavljević D; Tjong FVY; Barc J; Backx APCM; Clur SB; van Spaendonck-Zwarts K; Oostra RJ; Lahrouchi N; Beekman L; Bökenkamp R; Barge-Schaapveld DQCM; Mulder BJ; Lodder EM; Bezzina CR; Postma AV
Am J Med Genet A; 2019 Sep; 179(9):1836-1845. PubMed ID: 31301121
[TBL] [Abstract][Full Text] [Related]
3. GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
De Franco E; Shaw-Smith C; Flanagan SE; Shepherd MH; ; Hattersley AT; Ellard S
Diabetes; 2013 Mar; 62(3):993-7. PubMed ID: 23223019
[TBL] [Abstract][Full Text] [Related]
4. Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.
Sanchez-Lechuga B; Saqlain M; Ng N; Colclough K; Woods C; Byrne M
BMC Med Genet; 2020 Apr; 21(1):70. PubMed ID: 32245430
[TBL] [Abstract][Full Text] [Related]
5. Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.
Gong M; Simaite D; Kühnen P; Heldmann M; Spagnoli F; Blankenstein O; Hübner N; Hussain K; Raile K
Horm Res Paediatr; 2013; 79(4):250-6. PubMed ID: 23635550
[TBL] [Abstract][Full Text] [Related]
6. A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.
Suzuki S; Nakao A; Sarhat AR; Furuya A; Matsuo K; Tanahashi Y; Kajino H; Azuma H
Am J Med Genet A; 2014 Feb; 164A(2):476-9. PubMed ID: 24310933
[TBL] [Abstract][Full Text] [Related]
7. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.
Yau D; De Franco E; Flanagan SE; Ellard S; Blumenkrantz M; Mitchell JJ
Diagn Pathol; 2017 Jan; 12(1):1. PubMed ID: 28049534
[TBL] [Abstract][Full Text] [Related]
8. Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.
Raghuram N; Marwaha A; Greer MC; Gauda E; Chitayat D
Am J Med Genet A; 2020 Jun; 182(6):1496-1499. PubMed ID: 32207556
[TBL] [Abstract][Full Text] [Related]
9. Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
Chao CS; McKnight KD; Cox KL; Chang AL; Kim SK; Feldman BJ
PLoS One; 2015; 10(2):e0118449. PubMed ID: 25706805
[TBL] [Abstract][Full Text] [Related]
10. Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.
Yasuhara J; Manivannan SN; Majumdar U; Gordon DM; Lawrence PJ; Aljuhani M; Myers K; Stiver C; Bigelow AM; Galantowicz M; Yamagishi H; McBride KL; White P; Garg V
Pediatr Res; 2024 Jan; 95(1):146-155. PubMed ID: 37700164
[TBL] [Abstract][Full Text] [Related]
11. A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report.
Catli G; Abaci A; Flanagan SE; De Franco E; Ellard S; Hattersley A; Guleryuz H; Bober E
Diabetes Metab; 2013 Sep; 39(4):370-4. PubMed ID: 23639568
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in GATA6 causes pancreatic agenesis.
Stanescu DE; Hughes N; Patel P; De León DD
Pediatr Diabetes; 2015 Feb; 16(1):67-70. PubMed ID: 24433315
[TBL] [Abstract][Full Text] [Related]
13. A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.
Gaisl O; Konrad D; Joset P; Lang-Muritano M
J Pediatr Endocrinol Metab; 2019 Sep; 32(9):1027-1030. PubMed ID: 31271559
[TBL] [Abstract][Full Text] [Related]
14. GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes.
Bonnefond A; Sand O; Guerin B; Durand E; De Graeve F; Huyvaert M; Rachdi L; Kerr-Conte J; Pattou F; Vaxillaire M; Polak M; Scharfmann R; Czernichow P; Froguel P
Diabetologia; 2012 Oct; 55(10):2845-2847. PubMed ID: 22806356
[No Abstract] [Full Text] [Related]
15. Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.
Yorifuji T; Kawakita R; Hosokawa Y; Fujimaru R; Yamaguchi E; Tamagawa N
J Med Genet; 2012 Oct; 49(10):642-3. PubMed ID: 22962692
[TBL] [Abstract][Full Text] [Related]
16. GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
Shaw-Smith C; De Franco E; Lango Allen H; Batlle M; Flanagan SE; Borowiec M; Taplin CE; van Alfen-van der Velden J; Cruz-Rojo J; Perez de Nanclares G; Miedzybrodzka Z; Deja G; Wlodarska I; Mlynarski W; Ferrer J; Hattersley AT; Ellard S
Diabetes; 2014 Aug; 63(8):2888-94. PubMed ID: 24696446
[TBL] [Abstract][Full Text] [Related]
17. Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
Wang X; Ji W; Wang J; Zhao P; Guo Y; Xu R; Chen S; Sun K
Mol Med Rep; 2014 Aug; 10(2):743-8. PubMed ID: 24841381
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L; Bennett JT; Wynn J; Carvill GL; Cheung YH; Shen Y; Mychaliska GB; Azarow KS; Crombleholme TM; Chung DH; Potoka D; Warner BW; Bucher B; Lim FY; Pietsch J; Stolar C; Aspelund G; Arkovitz MS; ; Mefford H; Chung WK
J Med Genet; 2014 Mar; 51(3):197-202. PubMed ID: 24385578
[TBL] [Abstract][Full Text] [Related]
19. Neonatal diabetes and protein losing enteropathy: a case report.
McMillan T; Girgis R; Sellers EA
BMC Med Genet; 2016 Apr; 17():32. PubMed ID: 27098067
[TBL] [Abstract][Full Text] [Related]
20. Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.
Du YT; Moore L; Poplawski NK; De Sousa SMC
Endocrinol Diabetes Metab Case Rep; 2019 May; 2019():. PubMed ID: 31051468
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]