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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.... (0.10 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 increased understanding of genes involved in the entire ...
Cited by 15 - Related articles - BL Direct - All 6 versions

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


K Hussain, SE Flanagan, VV Smith, M Ashworth, M Day … - 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 results from recessive ATP-sensitive K + ...
Cited by 10 - Related articles - BL Direct - All 4 versions

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


SE Flanagan, S Clauin, C Bellanné-Chantelot, P de … - 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. Given the critical role of this channel in glucose ...
Cited by 5 - 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 …, 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 with the loss of the maternally inherited ...
Cited by 3 - Related articles - All 3 versions

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


J Koehn, M Fountoulakis, K … - Infectious Disorders-Drug …, 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. Multiple Drug Resistance Associated with Function of
ABC-Transporters in Diabetes Mellitus: Molecular Mechanism and Clinical Relevance ...
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, A … - 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 et 10 %, il varie avec les ...
Related articles - All 2 versions


 


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