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Scholar Results 1 - 10 of about 101 related to Staník: Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited.... (0.13 sec) 

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 …

- nih.gov - Free from Publisher
J Staník, M Lethby, SE Flanagan, D … - Diabetes Care, 2008 - Am Diabetes Assoc
OBJECTIVE—Neonatal diabetes is a heterogeneous group of disorders with
diabetes manifestation in the first 6 months of life. The most common etiology
in permanent neonatal diabetes is mutations of the ATP-sensitive K + ...
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Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of …


SG Kant, AM Van der Weij, W Oostdijk, JM … - Human genetics, 2005 - Springer
Abstract Transient neonatal diabetes mellitus (TNDM) is associated with paternal
over-expression of an im- printed locus on chromosome 6q24, which contains one
differentially methylated region (DMR); maternal demethylation at the DMR ...
Cited by 3 - Related articles - BL Direct - All 5 versions

[CITATION] ZFP57 mutations cause an autosomal recessive imprinting disorder


SS Sanders - Clinical Genetics, 2009 - interscience.wiley.com
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Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes …

- oxfordjournals.org
P Proks, K Shimomura, TJ Craig, CAJ Girard, … - Human Molecular Genetics, 2007 - Oxford Univ Press
Activating mutations in the genes encoding the ATP-sensitive potassium (K ATP )
channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes. Here,
we analyse the molecular mechanism of action of the heterozygous mutation ...
Cited by 12 - Related articles - BL Direct - All 4 versions

Incidence of neonatal diabetes in Austria–calculation based on the Austrian Diabetes …


B Wiedemann, E Schober, T Waldhoer, J … - Pediatric Diabetes, 2009 - interscience.wiley.com
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Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and …


R Aviram, D Kidron, S Silverstein, I Lerer, D … - Placenta, 2008 - Elsevier
Neonatal diabetes mellitus is a rare disorder with reporting incidence of
1/400,000–500,000 live births. Transient neonatal diabetes mellitus (TNDM)
(OMIM #601410) is characterized by neonatal hyperglycemia that resolves ...
Cited by 1 - Related articles - All 5 versions

[CITATION] Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/ …


F Barbetti, V Nocerino, C Colombo, R Bonfanti … - interscience.wiley.com
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Permanent Neonatal Diabetes Mellitus Due to a C96Y Heterozygous Mutation in the Insulin …


A Ahamed, AG Unnikrishnan, SS Pendsey, S … - JOP. J Pancreas (Online), 2008 - joplink.net
Case report We present a case of permanent neonatal diabetes mellitus due to a
C96Y (c.287G>A; p.Cys96Tyr) heterozygous mutation in the insulin (INS) gene.
Both the patient and his father (who had childhood-onset insulin-requiring ...
Cited by 1 - Related articles - Cached - All 3 versions

[CITATION] Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/ …


V Nocerino, C Colombo, R Bonfanti, D Iafusco, … - Diabetic medicine: a journal of the British Diabetic …, 2009 - ncbi.nlm.nih.gov
1: Diabet Med. 2009 Jun;26(6):660-1. Mutations in IAPP and NEUROG3 genes are not
a common cause of permanent neonatal/infancy/childhood-onset diabetes. ...
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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is …


DJG Mackay, JLA Callaway, SM Marks, HE … - Nature genetics, 2008 - nature.com
We have previously described individuals presenting with transient neonatal
diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci
throughout the genome. We now report mutations in ZFP57, which encodes a ...
Cited by 18 - Related articles - All 5 versions


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