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Scholar Results 1 - 10 of about 101 related to Bellanné-Chantelot: The type and the position of HNF1A mutation modulate age at diagnosis.... (0.09 sec) 

The type and the position of HNF1A mutation modulate age at diagnosis of …


C Bellanné-Chantelot, C Carette, JP Riveline, R Valéro … - Diabetes, 2008 - Am Diabetes Assoc
RESULTS—Missense mutations prevailed in the dimerization and DNA-binding domains
(74%), while truncating mutations were predominant in the transactivation domain (62%). The
majority (83%) of the mutations were located in exons 1- 6, thus affecting the three ...
Cited by 15 - Related articles - BL Direct - All 4 versions

Long-term follow-up of OGTT-derived glucose tolerance, insulin secretion and …

- diabetesjournals.org [PDF] 
D Martin, C Bellanné-Chantelot, I Deschamps, P … - Diabetes Care, 2008 - Am Diabetes Assoc
Page 1. Long-term follow-up of MODY2 subjects Long-term follow-up of OGTT-derived glucose
tolerance, insulin secretion and insulin sensitivity indices in subjects with glucokinase mutations
(MODY2) Delphine Martin, MD 1 , Christine Bellanné-Chantelot, PhD ...
Cited by 3 - Related articles - All 3 versions

[CITATION] AT Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of …


TM Frayling, MP Bulamn, S Ellard, M Appleton, MJ … - Links
Cited by 3 - Related articles

[CITATION] Aspectos clínicos e moleculares do Maturity Onset Diabetes of the Young (MODY)


N Campagnolo, PF Dallapicola, N Murussi, LH Canani, … - Revista do Hospital de Clínicas …, 2005
Cited by 3 - Related articles

Partial and whole gene deletion mutations of the GCK and HNF1A genes in …


S Ellard, K Thomas, EL Edghill, M Owens, L Ambye, J … - Diabetologia, 2007 - Springer
Page 1. SHORT COMMUNICATION Partial and whole gene deletion mutations of the GCK
and HNF1A genes in maturity-onset diabetes of the young S. Ellard & K. Thomas & EL Edghill
& M. Owens & L. Ambye & J. Cropper & J. Little & M. Strachan & ...
Cited by 19 - Related articles - BL Direct - All 2 versions

[CITATION] Prevalence of MODY mutations in Brazilian families with autosomal dominant early …


RS Moisés, AF Reis, V Morel, AR Chacra, SA Dib, C … - Diabetes Care, 2001
Cited by 6 - Related articles

Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with …


GK Furuzawa, FMA Giuffrida, CSV Oliveira, AR … - Diabetes Research and …, 2008 - Elsevier
Maturity-onset diabetes of the young (MODY) accounts for 2–5% of all cases of diabetes. MODY2
and MODY3, caused, respectively, by mutations in glucokinase (GCK) and hepatocyte nuclear
factor-1alpha (HNF1A), are the most common causes of MODY in all Caucasian ...
Cited by 8 - Related articles - All 17 versions

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor …


S Ellard, K Colclough - Human mutation, 2006 - interscience.wiley.com
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized
by autosomal dominant inheritance, early age of onset (often <25 years of age), and pancreatic
-cell dysfunction. MODY is both clinically and genetically heterogeneous, with six different ...
Cited by 33 - Related articles - BL Direct - All 4 versions

Half of clinically defined maturity-onset diabetes of the young patients in Denmark …

- endojournals.org
A Johansen, J Ek, HB Mortensen, O Pedersen, … - Journal of Clinical …, 2005 - Endocrine Soc
Aims/Hypothesis: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous
monogenic form of diabetes characterized by an autosomal dominant inheritance, an early clinical
onset, and a primary defect in ß-cell function. The aims of the present study were to ...
Cited by 22 - Related articles - BL Direct - All 5 versions

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


A Molven, M Ringdal, AM Nordbø, H Ræder, J Støy, … - Diabetes, 2008 - Am Diabetes Assoc
RESULTS—Among the MODY patients, we identified the INS mutation c.137G>A (R46Q) in a
proband, his diabetic father, and a paternal aunt. They were diagnosed with diabetes at 20,
18, and 17 years of age, respectively, and are treated with small doses of insulin or diet ...
Cited by 19 - Related articles - BL Direct - All 4 versions


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