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
- ►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 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
- ►pnas.org J Støy, EL Edghill, SE Flanagan, H Ye, VP … - Proceedings of the National Academy of Sciences, 2007 - National Acad Sciences We report 10 heterozygous mutations in the human insulin gene in 16 probands
with neonatal diabetes. A combination of linkage and a candidate gene approach
in a family with four diabetic members led to the identification of the ... Cited by 74 - Related articles - BL Direct - All 11 versions
EL Edghill, SE Flanagan, AM Patch, C … - DIABETES, 2008 - Am Diabetes Assoc Page 1. Insulin Mutation Screening in 1,044 Patients With Diabetes Mutations
in the INS Gene Are a Common Cause of Neonatal Diabetes ... Related articles
- ►endojournals.org L Aguilar-Bryan, J Bryan - Endocrine Reviews, 2008 - Endocrine Soc An explosion of work over the last decade has produced insight into the multiple
hereditary causes of a nonimmunological form of diabetes diagnosed most
frequently within the first 6 months of life. These studies are providing ... Cited by 15 - Related articles - BL Direct - All 6 versions
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
- ►nih.gov S Ellard, SE Flanagan, CA Girard, AM Patch, … - The American Journal of Human Genetics, 2007 - Elsevier Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming
Kir6.2 subunit of the pancreatic beta cell K ATP channel are the most common
cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a ... Cited by 28 - Related articles - BL Direct - All 9 versions
- ►shouxi.net SE Flanagan, AM Patch, DJG Mackay, EL … - Diabetes, 2007 - Am Diabetes Assoc Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months
of life, with remission in infancy or early childhood. For 50% of patients,
their diabetes will relapse in later life. The majority of cases result ... Cited by 50 - Related articles - BL Direct - All 8 versions
M Polak, H Cavé - Orphanet J Rare Dis, 2007 - biomedcentral.com Address: 1 Faculty of medicine Paris René Descartes, Paediatric endocrinology
and INSERM U845, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris,
France and 2 Département de Génétique, Hôpital Robert Debré, 48 ... Cited by 22 - Related articles - View as HTML - All 13 versions
