Shaw-Smith C - Search Results

1

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. Shaw-Smith C, et al. Diabetes. 2014 Aug;63(8):2888-94. doi: 10.2337/db14-0061. Epub 2014 Apr 2. Diabetes. 2014. PMID: 24696446 Free PMC article.

2

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium; Ferrer J, Hattersley AT, Ellard S. Allen HL, et al. Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035. Nat Genet. 2011. PMID: 22158542 Free PMC article.

3

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.

Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, Ellard S. Shaw-Smith C, et al. Pediatr Diabetes. 2012 Jun;13(4):314-21. doi: 10.1111/j.1399-5448.2012.00855.x. Epub 2012 Feb 27. Pediatr Diabetes. 2012. PMID: 22369132 Review.

4

Many patients have an identifiable genetic cause of Hirschsprung's disease.

Sansbury FH, Ellard S, Shaw-Smith C, Turnpenny P. Sansbury FH, et al. BMJ. 2012 Dec 3;345:e8199. doi: 10.1136/bmj.e8199. BMJ. 2012. PMID: 23208263 No abstract available.

5

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; International NDM Consortium; Hattersley AT, Ellard S. De Franco E, et al. Diabetes. 2013 Mar;62(3):993-7. doi: 10.2337/db12-0885. Epub 2012 Dec 6. Diabetes. 2013. PMID: 23223019 Free PMC article.

6

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.

De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, Hattersley AT, Ellard S. De Franco E, et al. Diabet Med. 2013 May;30(5):e197-200. doi: 10.1111/dme.12122. Epub 2013 Feb 28. Diabet Med. 2013. PMID: 23320570 Free PMC article.

7

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium; Ellard S, Ferrer J, Hattersley AT. Weedon MN, et al. Nat Genet. 2014 Jan;46(1):61-64. doi: 10.1038/ng.2826. Epub 2013 Nov 10. Nat Genet. 2014. PMID: 24212882 Free PMC article.

8

Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.

Gonc EN, Ozon A, Alikasifoglu A, Haliloğlu M, Ellard S, Shaw-Smith C, Kandemir N. Gonc EN, et al. Horm Res Paediatr. 2015;84(3):206-11. doi: 10.1159/000435782. Epub 2015 Jul 14. Horm Res Paediatr. 2015. PMID: 26184423

9

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ. Sansbury FH, et al. Eur J Hum Genet. 2015 Dec;23(12):1744-8. doi: 10.1038/ejhg.2015.161. Epub 2015 Aug 12. Eur J Hum Genet. 2015. PMID: 26264437 Free PMC article.

10

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ. Sansbury FH, et al. Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.208. Eur J Hum Genet. 2015. PMID: 26559129 Free PMC article. No abstract available.

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