AL Gloyn, S Ellard, M Shepherd, RT Howell, EM Parry, … - Diabetes, 2002 - Am Diabetes Assoc Monogenic human disorders have been used as paradigms for complex genetic disease and
as tools for establishing important insights into mechanisms of gene regulation and transcriptional
control. Maturity-onset diabetes of the young (MODY) is a monogenic dominantly ... Cited by 20 - Related articles - BL Direct - All 4 versions
KR Owen, J Roland, K Smith, AT Hattersley - Diabetic Medicine, 2003 - interscience.wiley.com Case reportWe describe a novel unbalanced translocation between Xq and 10p associated with
amenorrhoea and onset of Type 2 diabetes in a non-obese Caucasian adolescent. There was
no evidence of an autoimmune or known genetic aetiology for the diabetes and the ... Cited by 6 - Related articles - BL Direct - All 4 versions
- ►diabetesjournals.org J Ek, SP Hansen, M Lajer, C Nicot, TW Boesgaard, S … - Diabetes, 2006 - Am Diabetes Assoc Recently, it has been shown that mutations in the P2 promoter of the hepatocyte nuclear factor
(HNF)-4α gene (HNF4A) cause maturity-onset diabetes of the young (MODY), while single nucleotide
polymorphisms in this locus are associated with type 2 diabetes. In this study, we ... Cited by 12 - Related articles - BL Direct - All 6 versions
I Bache, M Hjorth, M Bugge, S Holstebroe, J … - European Journal of …, 2006 - nature.com Balanced reciprocal translocations associated with genetic disorders have facilitated the identification
of a variety of genes for early-onset monogenic disorders, but only rarely the genes associated
with common and complex disorders. To assess the potential of chromosomal ... Cited by 9 - Related articles - BL Direct - All 4 versions
J Kamimura, K Wakui, H Kadowaki, Y Watanabe, K … - Journal of Human …, 2004 - Springer Abstract Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective
insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have
been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM ... Cited by 9 - Related articles - BL Direct - All 6 versions
- ►endojournals.org L Bjorkhaug, JV Sagen, P Thorsby, O Sovik, A … - Journal of Clinical …, 2003 - Endocrine Soc Mutations in the hepatocyte nuclear factor (HNF)-1 gene cause maturity-onset diabetes of the
young (MODY), type 3. To estimate the prevalence of MODY3 in Norwegian diabetic
pedigrees, we screened a total of 130 families for HNF-1 mutations; 42 families with ... Cited by 29 - Related articles - BL Direct - All 5 versions
- ►diabetesjournals.org [PDF] S Ellard, MP Bulman, TM Frayling, LIS Allen, MJ … - Diabetes(New York, NY …, 1999 - cat.inist.fr Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1 α gene hinders the
identification of mutations in three families with maturity-onset diabetes of the young.
S ELLARD, MP BULMAN, TM FRAYLING, LIS ALLEN, MJ DRONSFIELD ... Cited by 22 - Related articles - BL Direct - All 4 versions
ER Pearson, S Pruhova, CJ Tack, A Johansen, HAJ … - Diabetologia, 2005 - Springer Page 1. Diabetologia (2005) 48: 878–885 DOI 10.1007/s00125-005-1738-y ARTICLE ER
Pearson . S. Pruhova . CJ Tack . A. Johansen . HAJ Castleden . PJ Lumb . AS Wierzbicki .
PM Clark . J. Lebl . O. Pedersen . S. Ellard . T. Hansen . AT Hattersley ... Cited by 57 - Related articles - All 5 versions
[CITATION] HNF-4a mutations cause fetal hyperinsulinaemia, macrosomia and transient …
