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
R Bonfanti, C Colombo, V Nocerino, O Massa, V … - Diabetes Care, 2009 - Am Diabetes Assoc OBJECTIVE—Heterozygous, gain-of-function mutations of the insulin gene can cause permanent
diabetes with onset ranging from the neonatal period through adulthood. The aim of our study
was to screen for the insulin gene in patients who had been clinically classified as type 1 ... Cited by 4 - Related articles - All 3 versions
PR Njølstad - Am Diabetes Assoc Page 1. Mutations in the Insulin Gene can Cause MODY and Autoantibody- Negative
Type 1 Diabetes Anders Molven, 1,2 Monika Ringdal, 3,4 Anita M. Nordbø, 3,4 Helge
Ræder, 5 Julie Støy, 6 Gregory M. Lipkind, 8 Donald ... Related articles
C Colombo, O Porzio, M Liu, O Massa, M … - The Journal of …, 2008 - pubmedcentral.nih.gov 1 Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesù Children's
Hospital, Scientific Institute (IRCCS), Rome, Italy. 2 Department of Internal Medicine, University
of Tor Vergata, Rome, Italy. 3 Division of Metabolism, Endocrinology, and Diabetes, ... Cited by 13 - Related articles - BL Direct - All 8 versions
EL Edghill, SE Flanagan, AM Patch, C Boustred, A … - Diabetes, 2008 - Am Diabetes Assoc RESULTS— We identified heterozygous INS mutations in 33 of 141 probands diagnosed at
<6 months, 2 of 86 between 6 and 12 months, and none of 58 between 12 and 24 months of
age. Three known mutations (A24D, F48C, and R89C) account for 46% of cases. There ... Cited by 30 - Related articles - BL Direct - All 5 versions
[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
[CITATION] AT Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of …
- ►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
- ►diabetesjournals.org M Polak, A Dechaume, H Cavé, R Nimri, H Crosnier, V … - Diabetes, 2008 - Am Diabetes Assoc OBJECTIVE—Permanent neonatal diabetes (PND) is defined by chronic hyperglycemia due
to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Several
genes, including KCNJ11 and ABCC8, which encode the two subunits of the ... Cited by 12 - Related articles - BL Direct - All 5 versions
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
