Genotype-phenotype correlation in inherited severe insulin resistance.
about
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneRILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family.Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin ReceptorClassic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.Proteomic profiling of human intraschisis cavity fluidMonogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cellsGenetically defined pancreatic beta cell failure.Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management.Severe insulin resistance alters metabolism in mesenchymal progenitor cells.Genetics of Type 2 diabetes.Novel roles for insulin receptor (IR) in adipocytes and skeletal muscle cells via new and unexpected substrates.Insulin Resistance in Human iPS Cells Reduces Mitochondrial Size and Function.Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Congenital disease SNPs target lineage specific structural elements in protein kinasesPIK3R1 mutations cause syndromic insulin resistance with lipoatrophyMetreleptin improves blood glucose in patients with insulin receptor mutations.Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.Paediatrics, insulin resistance and the kidney.Analysis of a single-codon E746 deletion in exon 19 of the epidermal growth factor receptor.Glucagon receptor inhibition normalizes blood glucose in severe insulin-resistant mice.Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.Donohue syndrome and use of continuous subcutaneous insulin pump therapy.Rabson Mendenhall Syndrome caused by a novel missense mutation.Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidenceLeprechaunism - a case report.Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene.Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance.The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency.Hypoglycaemia revealing heterozygous insulin receptor mutations.Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.Glimepiride treatment in a patient with type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.Rabson-mendenhall syndrome.
P2860
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P2860
Genotype-phenotype correlation in inherited severe insulin resistance.
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Genotype-phenotype correlation in inherited severe insulin resistance.
@ast
Genotype-phenotype correlation in inherited severe insulin resistance.
@en
Genotype-phenotype correlation in inherited severe insulin resistance.
@nl
type
label
Genotype-phenotype correlation in inherited severe insulin resistance.
@ast
Genotype-phenotype correlation in inherited severe insulin resistance.
@en
Genotype-phenotype correlation in inherited severe insulin resistance.
@nl
prefLabel
Genotype-phenotype correlation in inherited severe insulin resistance.
@ast
Genotype-phenotype correlation in inherited severe insulin resistance.
@en
Genotype-phenotype correlation in inherited severe insulin resistance.
@nl
P2093
P356
P1476
Genotype-phenotype correlation in inherited severe insulin resistance.
@en
P2093
Daniel Giannella-Neto
Nicola Longo
Sharon D Langley
Shelley A Smith
Yuhuan Wang
P304
P356
10.1093/HMG/11.12.1465
P577
2002-06-01T00:00:00Z