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Similar articles for PubMed (Select 18162506)

1.

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.

2.

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.

Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group.

Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2.

3.

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.

Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O; Norwegian Childhood Diabetes Study Group, Bell GI, Njølstad PR.

Diabetes. 2008 Apr;57(4):1131-5. doi: 10.2337/db07-1467. Epub 2008 Jan 11.

4.

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T.

BMC Med Genet. 2010 Mar 12;11:42. doi: 10.1186/1471-2350-11-42.

5.

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT.

Diabetes. 2007 Jul;56(7):1930-7. Epub 2007 Apr 19. Erratum in: Diabetes. 2008 Feb;57(2):523.

7.

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.

Diabetologia. 2006 Jun;49(6):1190-7. Epub 2006 Apr 12.

PMID:
16609879
8.

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Hum Mutat. 2005 Jan;25(1):22-7.

PMID:
15580558
9.

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT.

Diabetes. 2004 Nov;53(11):2998-3001.

10.

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes.

Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT.

Diabet Med. 2009 Oct;26(10):1070-4. doi: 10.1111/j.1464-5491.2009.02812.x.

PMID:
19900242
11.
12.

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.

Klupa T, Kowalska I, Wyka K, Skupien J, Patch AM, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, Sieradzki J, Mlynarski W, Malecki MT.

Clin Endocrinol (Oxf). 2009 Sep;71(3):358-62. doi: 10.1111/j.1365-2265.2008.03478.x. Epub 2008 Nov 18.

PMID:
19021632
13.

Monogenic diabetes mellitus in youth. The MODY syndromes.

Winter WE, Nakamura M, House DV.

Endocrinol Metab Clin North Am. 1999 Dec;28(4):765-85. Review.

PMID:
10609119
14.

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L.

Diabet Med. 2007 Jul;24(7):707-13. Epub 2007 May 8.

PMID:
17490422
15.

Permanent neonatal diabetes due to KCNJ11 gene mutation.

Letha S, Mammen D, Valamparampil JJ.

Indian J Pediatr. 2007 Oct;74(10):947-9.

PMID:
17978456
16.

Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL.

JOP. 2008 Nov 3;9(6):715-8.

17.

Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.

D'Amato E, Tammaro P, Craig TJ, Tosi A, Giorgetti R, Lorini R, Ashcroft FM.

Diabet Med. 2008 Jun;25(6):651-6. doi: 10.1111/j.1464-5491.2008.02443.x.

PMID:
18544102
18.

Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.

Bonfanti R, Colombo C, Nocerino V, Massa O, Lampasona V, Iafusco D, Viscardi M, Chiumello G, Meschi F, Barbetti F.

Diabetes Care. 2009 Jan;32(1):123-5. doi: 10.2337/dc08-0783. Epub 2008 Oct 7.

19.

Heterozygous ABCC8 mutations are a cause of MODY.

Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S.

Diabetologia. 2012 Jan;55(1):123-7. doi: 10.1007/s00125-011-2319-x. Epub 2011 Oct 12.

PMID:
21989597
20.

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group.

Diabetes. 2007 Jun;56(6):1737-41. Epub 2007 Mar 27.

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