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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndromeJAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaTwo mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasiaA syndrome with congenital neutropenia and mutations in G6PC3Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretionClassification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.Cohen syndrome is associated with major glycosylation defects.Extent of hematopoietic involvement by TET2 mutations in JAK2V⁶¹⁷F polycythemia vera.Familial focal congenital hyperinsulinismNeutrophil depletion impairs natural killer cell maturation, function, and homeostasis.Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.Diagnosis and management of maturity-onset diabetes of the young.Molecular mechanisms of neonatal hyperinsulinism.Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.KATP channel mutations in congenital hyperinsulinism.Congenital hyperinsulinism: current trends in diagnosis and therapy.Epidemiology of congenital neutropenia.Unsolved issues related to human mitochondrial diseases.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancyAltered chemotactic response to CXCL12 in patients carrying GATA2 mutations.Diabetes, Associated Clinical Spectrum, Long-term Prognosis and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1 B (HNF1B) Molecular Defects.Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.Severe chronic primary neutropenia in adults: report on a series of 108 patients.New somatic BRAF splicing mutation in Langerhans cell histiocytosis.Incretin effect of glucagon-like peptide 1 receptor agonist is preserved in presence of ABCC8/SUR1 mutation in β-cell.Clinical utility gene card for: Maturity-onset diabetes of the young.Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes.Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey.HNF1B-related diabetes triggered by renal transplantation.Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
P50
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P50
name
Christine Bellanné-Chantelot
@ast
Christine Bellanné-Chantelot
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Christine Bellanné-Chantelot
@nl
type
label
Christine Bellanné-Chantelot
@ast
Christine Bellanné-Chantelot
@en
Christine Bellanné-Chantelot
@nl
prefLabel
Christine Bellanné-Chantelot
@ast
Christine Bellanné-Chantelot
@en
Christine Bellanné-Chantelot
@nl