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Items: 1 to 20 of 137

1.

Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.

Thanabalasingham G, Kaur K, Talbot F, Colclough K, Mathews A, Taylor J, Ellard S, Owen KR.

Diabet Med. 2013 Aug;30(8):e233-8. doi: 10.1111/dme.12210.

PMID:
23586928
2.

Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients.

Kawakita R, Hosokawa Y, Fujimaru R, Tamagawa N, Urakami T, Takasawa K, Moriya K, Mizuno H, Maruo Y, Takuwa M, Nagasaka H, Nishi Y, Yamamoto Y, Aizu K, Yorifuji T.

Diabet Med. 2014 Nov;31(11):1357-62. doi: 10.1111/dme.12487. Epub 2014 May 24.

PMID:
24804978
3.

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.

Chakera AJ, Steele AM, Gloyn AL, Shepherd MH, Shields B, Ellard S, Hattersley AT.

Diabetes Care. 2015 Jul;38(7):1383-92. doi: 10.2337/dc14-2769. Review.

PMID:
26106223
4.

Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.

Stanik J, Kusekova M, Huckova M, Valentinova L, Masindova I, Stanikova D, Ferenczova J, Gasperikova D, Klimes I.

Endocr Regul. 2012 Apr;46(2):99-105.

PMID:
22540858
5.

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT.

Diabetologia. 2007 Nov;50(11):2313-7. Epub 2007 Sep 8.

PMID:
17828387
6.

Glucokinase gene mutations (MODY 2) in Asian Indians.

Kanthimathi S, Jahnavi S, Balamurugan K, Ranjani H, Sonya J, Goswami S, Chowdhury S, Mohan V, Radha V.

Diabetes Technol Ther. 2014 Mar;16(3):180-5. doi: 10.1089/dia.2013.0244. Epub 2014 Jan 9.

PMID:
24405491
7.

Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing.

López-Garrido MP, Herranz-Antolín S, Alija-Merillas MJ, Giralt P, Escribano J.

Clin Endocrinol (Oxf). 2013 Sep;79(3):342-7. doi: 10.1111/cen.12050. Epub 2013 Apr 1.

PMID:
23009393
8.

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.

Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT.

Diabetes. 2001 Feb;50 Suppl 1:S101-7.

9.

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.

Borowiec M, Mysliwiec M, Fendler W, Antosik K, Brandt A, Malecki M, Mlynarski W.

Acta Diabetol. 2011 Sep;48(3):203-8. doi: 10.1007/s00592-011-0279-8. Epub 2011 Mar 25.

10.

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

Tinto N, Zagari A, Capuano M, De Simone A, Capobianco V, Daniele G, Giugliano M, Spadaro R, Franzese A, Sacchetti L.

PLoS One. 2008 Apr 2;3(4):e1870. doi: 10.1371/journal.pone.0001870.

11.

The clinical management of hyperglycemia in pregnancy complicated by maturity-onset diabetes of the young.

Bacon S, Schmid J, McCarthy A, Edwards J, Fleming A, Kinsley B, Firth R, Byrne B, Gavin C, Byrne MM.

Am J Obstet Gynecol. 2015 Aug;213(2):236.e1-7. doi: 10.1016/j.ajog.2015.04.037. Epub 2015 Apr 30.

PMID:
25935773
12.

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

Gozlan Y, Tenenbaum A, Shalitin S, Lebenthal Y, Oron T, Cohen O, Phillip M, Gat-Yablonski G.

Pediatr Diabetes. 2012 Sep;13(6):e14-21. doi: 10.1111/j.1399-5448.2011.00822.x. Epub 2011 Oct 7.

PMID:
21978167
13.

Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients.

Lopez AP, Foscaldi SA, Pérez MS, Krochik G, Rodríguez M, Traversa M, Puchulu FM, Hirschler V, Bergada I, Frechtel GD.

Exp Clin Endocrinol Diabetes. 2009 Sep;117(8):391-4. doi: 10.1055/s-0029-1214427. Epub 2009 Apr 8.

PMID:
19358091
14.

Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies.

Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, Hattersley AT, Shields BM.

PLoS One. 2013 Jun 14;8(6):e65326. doi: 10.1371/journal.pone.0065326. Print 2013.

15.

Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

Hager J, Blanché H, Sun F, Vaxillaire NV, Poller W, Cohen D, Czernichow P, Velho G, Robert JJ, Cohen N, et al.

Diabetes. 1994 May;43(5):730-3.

PMID:
8168652
16.

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S, Dusatkova P, Sumnik Z, Kolouskova S, Pedersen O, Hansen T, Cinek O, Lebl J.

Pediatr Diabetes. 2010 Dec;11(8):529-35. doi: 10.1111/j.1399-5448.2010.00646.x.

PMID:
20337973
17.

The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort.

Chakera AJ, Spyer G, Vincent N, Ellard S, Hattersley AT, Dunne FP.

Diabetes Care. 2014;37(5):1230-6. doi: 10.2337/dc13-2248. Epub 2014 Feb 18.

PMID:
24550216
18.

Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

Yorifuji T, Fujimaru R, Hosokawa Y, Tamagawa N, Shiozaki M, Aizu K, Jinno K, Maruo Y, Nagasaka H, Tajima T, Kobayashi K, Urakami T.

Pediatr Diabetes. 2012 Feb;13(1):26-32. doi: 10.1111/j.1399-5448.2011.00827.x. Epub 2011 Nov 8. Erratum in: Pediatr Diabetes. 2013 May;14(3):230.

PMID:
22060211
19.

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Review.

PMID:
19790256
20.

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Valentínová L, Beer NL, Staník J, Tribble ND, van de Bunt M, Hučková M, Barrett A, Klimeš I, Gašperíková D, Gloyn AL.

PLoS One. 2012;7(4):e34541. doi: 10.1371/journal.pone.0034541. Epub 2012 Apr 6.

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