Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome
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Rfx6 directs islet formation and insulin production in mice and humansNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentSox17 regulates organ lineage segregation of ventral foregut progenitor cellsPrenatal diagnosis of annular pancreas: reliability of the double bubble sign with periduodenal hyperechogenic band.Many faces of monogenic diabetesFunctional analysis of Rfx6 and mutant variants associated with neonatal diabetes.Xenopus as a Model for GI/Pancreas Disease.Rfx6 maintains the functional identity of adult pancreatic β cells.Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.The role of pancreatic imaging in monogenic diabetes mellitus.Embryonic exposures to perfluorooctanesulfonic acid (PFOS) disrupt pancreatic organogenesis in the zebrafish, Danio rerio.A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.Assessment of Toxicological Perturbations and Variants of Pancreatic Islet Development in the Zebrafish Model.Studying pancreas development and diabetes using human pluripotent stem cells.Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrancePathways governing development of stem cell-derived pancreatic β cells: lessons from embryogenesis.Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome?Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from ThailandClinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
P2860
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P2860
Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome
description
2004 nî lūn-bûn
@nan
2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@ast
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@en
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@nl
type
label
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@ast
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@en
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@nl
prefLabel
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@ast
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@en
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@nl
P2093
P1433
P1476
Neonatal diabetes, with hypopl ...... w autosomal recessive syndrome
@en
P2093
I L Hansen
J Mitchell
V Desilets
P2888
P304
P356
10.1007/S00125-004-1576-3
P407
P577
2004-12-01T00:00:00Z
P5875
P6179
1021428639