A Molven, M Ringdal, AM Nordbø, H Ræder, J … - 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 ... Cited by 19 - Related articles - BL Direct - All 4 versions
R Bonfanti, C Colombo, V Nocerino, O Massa, … - 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 ... 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 ... Related articles
C Colombo, O Porzio, M Liu, O Massa, M Vasta, … - The Journal of Clinical Investigation, 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, ... Cited by 13 - Related articles - BL Direct - All 8 versions
EL Edghill, SE Flanagan, AM Patch, C Boustred … - 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) ... 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 … - Revista do Hospital de Clínicas de Porto Alegre, 2005 Cited by 3 - Related articles
[CITATION] AT Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity- …
- ►diabetesjournals.org [PDF] D Martin, C Bellanné-Chantelot, I Deschamps, … - 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 ... Cited by 3 - Related articles - All 3 versions
- ►diabetesjournals.org M Polak, A Dechaume, H Cavé, R Nimri, H … - 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 ... Cited by 12 - Related articles - BL Direct - All 5 versions
C Bellanné-Chantelot, C Carette, JP Riveline … - 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 ... Cited by 15 - Related articles - BL Direct - All 4 versions
