Genotype and phenotype correlations in 417 children with congenital hyperinsulinism - Wikidata - wikimedia - TriplyDB

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

http://www.wikidata.org/entity/Q36589427

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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel.Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.Update on neonatal hypoglycemia.Congenital hyperinsulinism: current status and future perspectives.Uncoupling of secretion from growth in some hormone secretory tissues.Mitochondrial GTP insensitivity contributes to hypoglycemia in hyperinsulinemia hyperammonemia by inhibiting glucagon release.Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy Structurally distinct ligands rescue biogenesis defects of the KATP channel complex via a converging mechanism.Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases.Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.Clinical practice guidelines for congenital hyperinsulinism.Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.Congenital Hyperinsulinism in china: a review of Chinese literature over the past 15 years Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

http://www.wikidata.org/entity/Q36589427

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2012 nî lūn-bûn

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2012年の論文

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2012年论文

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

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The Journal of Clinical Endocrinology and Metabolism

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

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A Ganguly

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C A Stanley

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C MacMullen

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K E Snider

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K Ganapathy

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dbSNP: the NCBI database of genetic variation

A map of human genome variation from population-scale sequencing

A method and server for predicting damaging missense mutations

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Molecular biology of adenosine triphosphate-sensitive potassium channels

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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