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
- ►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 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
- ►pnas.org J Støy, EL Edghill, SE Flanagan, H Ye, … - Proceedings of the …, 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 initial INS gene mutation. The mutations are ... Cited by 74 - Related articles - BL Direct - All 11 versions
EL Edghill, SE Flanagan, AM Patch, C Boustred, A … - 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 but a Rare Cause of
Diabetes Diagnosed in Childhood or Adulthood Emma L. Edghill ... 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 increased understanding of genes involved in the entire ... Cited by 15 - Related articles - BL Direct - All 6 versions
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
- ►nih.gov S Ellard, SE Flanagan, CA Girard, AM Patch, LW … - The American Journal of …, 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 heterozygous activating mutation in the ... Cited by 28 - Related articles - BL Direct - All 9 versions
- ►shouxi.net SE Flanagan, AM Patch, DJG Mackay, EL Edghill, AL … - 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 from anomalies of the imprinted region on chromosome 6q24, and ... 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 Boulevard Sérurier, 75019 Paris, France Email: ... Cited by 22 - Related articles - View as HTML - All 13 versions
