about
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic developmentExome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth diseaseMutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeAbnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 betaMutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosisEvidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutationsAn in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyIn vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human isletsHypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutationsAlternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical pictureActivating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetestRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humansMutated MESP2 causes spondylocostal dysostosis in humans.Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney diseaseStudies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United KingdomMutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotypeMissense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetesAlagille syndrome: pathogenesis, diagnosis and managementA common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesityHuman CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndromeMutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformationsChildhood presentation of COL4A1 mutationsPitfalls of haplotype phasing from amplicon-based long-read sequencingA heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cisPatients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophiliaMultiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutationA missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the youngThe laminopathies: a clinical reviewPremature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutationPseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutationsMutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinismMacrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A genePancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinismReplication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesGermline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.
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description
researcher, ORCID id # 0000-0002-7620-5526
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wetenschapper
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name
Sian Ellard
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Sian Ellard
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Sian Ellard
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Sian Ellard
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Sian Ellard
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Sian Ellard
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Sian Ellard
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Sian Ellard
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Ellard S
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S Ellard
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Sian Ellard
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Sian Ellard
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Sian Ellard
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Sian Ellard
@nl
P106
P21
P31
P496
0000-0002-7620-5526