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Scholar Results 1 - 10 of about 101 related to Polak: Heterozygous missense mutations in the insulin gene are linked to permanent diabetes.... (0.09 sec) 

Heterozygous missense mutations in the insulin gene are linked to permanent …

- 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

Insulin Mutation Screening in 1,044 Patients With Diabetes


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

Seven mutations in the human insulin gene linked to permanent neonatal/infancy- …


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

[PDF] A Report From the French ND (Neonatal Diabetes) Study Group


M Polak, A Dechaume, H Cavé, R Nimri, H Crosnier, V … - Diabetes, 2008 - Am Diabetes Assoc
Page 1. Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent
Diabetes Appearing in the Neonatal Period or in Early Infancy A Report From the
French ND (Neonatal Diabetes) Study Group Michel Polak ...
Cited by 1 - Related articles

Heterozygous Missense Mutations in the Insulin Gene are linked to Permanent …


MD Michel Polak, AD MSc, HC DPharm, R Nimri, H … - Am Diabetes Assoc
Page 1. Heterozygous Missense Mutations in the Insulin Gene are linked to Permanent
Diabetes appearing in the Neonatal Period or in Early-Infancy: A report from the French
ND Study Group Michel Polak MD, PhD 1,2,3 , Aurélie ...
Related articles - All 2 versions

A novel point mutation in the insulin gene giving rise to hyperproinsulinemia

- endojournals.org
MG Warren-Perry, SE Manley, D Ostrega, K … - Journal of Clinical …, 1997 - Endocrine Soc
A 58-yr-old obese white Caucasian male type 2 diabetic, entered into the UK Prospective Diabetes
Study, was found to have raised fasting total proinsulin levels 708 pmol/L -1 (normal range,
3–16 pmol/L -1 ) and normal specific plasma insulin level 29 pmol/L -1 (normal range, 21– ...
Cited by 13 - Related articles - BL Direct - All 5 versions

[CITATION] G Joner, Søvik O, the Norwegian Childhood Diabetes Study Group, Bell GI, …


A Molven, M Ringdal, AM Nordbø, H Rjder, J Støy, GM … - Diabetes, 2008
Cited by 2 - Related articles

Insulin gene mutations as a cause of permanent neonatal diabetes

- 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

[CITATION] Neonatal Diabetes International Collaborative Group. Effective treatment with oral …


M Rafiq, SE Flanagan, AM Patch, BM Shields, S Ellard, … - Diabetes Care, 2008
Cited by 3 - Related articles

Overview of neonatal diabetes


J Hamilton-Shield - Endocrine development, 2007 - content.karger.com
Abstract Diabetes developing within the first 6 months of life is rarely, if ever, caused by a classic
type 1 diabetes- related autoimmune process. Currently, patients developing diabetes before
6 months of age are defined as having neonatal diabetes although this terminology ...
Cited by 3 - Related articles - BL Direct - All 4 versions


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