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Scholar Results 1 - 6 of 6 citing Shield: Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with.... (0.08 sec) 

Neonatal diabetes mellitus

- 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

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse …


K Hussain, SE Flanagan, VV Smith, M Ashworth … - Diabetes, 2008 - Am Diabetes Assoc
OBJECTIVE— Congenital hyperinsulinism (CHI) may be due to diffuse or focal
pancreatic disease. The diffuse form is associated with an increase in the size
of β-cell nuclei throughout the whole of the pancreas and most commonly ...
Cited by 10 - Related articles - BL Direct - All 4 versions

Update of mutations in the genes encoding the pancreatic beta-cell K (ATP) channel …


SE Flanagan, S Clauin, C Bellanné-Chantelot, … - Hum Mutat, 2009 - interscience.wiley.com
The beta-cell ATP-sensitive potassium (K ATP ) channel is a key component of
stimulus-secretion coupling in the pancreatic beta-cell. The channel couples
metabolism to membrane electrical events bringing about insulin secretion. ...
Cited by 4 - Related articles - All 3 versions

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism


L Damaj, M le Lorch, V Verkarre, C Werl, L … - Journal of Clinical Endocrinology & Metabolism, 2008 - Endocrine Soc
Context: Focal forms of congenital hyperinsulinism are due to a constitutional
heterozygous mutation of paternal origin in the ABCC8 gene, more often than the
KCNJ11 gene, located in the 11p15.1 region. This mutation is associated ...
Cited by 3 - Related articles - All 3 versions

Multiple Drug Resistance Associated with Function of ABC-Transporters in Diabetes …


J Koehn, M Fountoulakis, K Krapfenbauer - Infectious Disorders-Drug Targets (Formerly Current …, 2008 - ingentaconnect.com
Page 1. Infectious Disorders - Drug Targets 2008, 8, 109-118 109
1871-5265/08 $55.00+.00 © 2008 Bentham Science Publishers Ltd. ...
Cited by 1 - Related articles - All 2 versions

Malignancy risk and Wiedemann–Beckwith syndrome: What follow-up to provide?


J Santiago, M Muszlak, C Samson, E Goulois, … - Archives de pédiatrie, 2008 - Elsevier
Le syndrome de Wiedemann-Beckwith (SWB) est un syndrome de croissance excessive
prédisposant, a priori, à la survenue de tumeurs embryonnaires dans les
premières années de vie. Si ce risque est globalement évalué entre 7,5 ...
Related articles - All 2 versions


 


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