Lista de obras - Christine Bellanné-Chantelot

35th Annual Meeting of the European Association for the Study of Diabetes

artículo científico

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes

artículo científico publicado en 2004

A syndrome with congenital neutropenia and mutations in G6PC3

artículo científico publicado en 2009

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism

artículo científico publicado en 2004

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms

scientific article published on 29 June 2009

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

artículo científico publicado en 2016

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

artículo científico publicado en 2010

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey

artículo científico publicado en 2012

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.

artículo científico publicado en 2006

Childhood onset diabetes posttransplant in a girl with TCF2 mutation ⬇️

artículo científico publicado el 20 de enero de 2012

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations

artículo científico publicado en 2004

Clinical utility gene card for: Maturity-onset diabetes of the young

artículo científico publicado en 2014

Cohen syndrome is associated with major glycosylation defects

artículo científico publicado en 2013

Congenital hyperinsulinism: current trends in diagnosis and therapy ⬇️

artículo científico publicado el 3 de octubre de 2011

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion

artículo científico publicado en 2006

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

artículo científico publicado en 2017

Congenital neutropenia: diagnosis, molecular bases and patient management

artículo científico publicado en 2011

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

artículo científico publicado en 2012

Diabetes, Associated Clinical Spectrum, Long-term Prognosis and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1 B (HNF1B) Molecular Defects

artículo científico publicado en 2017

Diagnosis and management of maturity-onset diabetes of the young

artículo científico publicado en 2005

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia

artículo científico publicado en 2007

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

artículo científico publicado en 2019

Epidemiology of congenital neutropenia

artículo científico

Extent of hematopoietic involvement by TET2 mutations in JAK2V617F polycythemia vera ⬇️

artículo científico publicado el 27 de enero de 2011

Familial focal congenital hyperinsulinism

artículo científico publicado en 2010

Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2010

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

artículo científico publicado en 2016

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

artículo científico publicado en 2021

Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy

artículo científico publicado en 2007

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

artículo científico publicado en 2017

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

artículo científico publicado en 2015

Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas

artículo científico publicado en 2005

Granulopoeisis and leukemogenesis: lessons from congenital neutropenia

artículo científico publicado en 2008

HNF1B-related diabetes triggered by renal transplantation.

artículo científico publicado en 2009

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment

artículo científico publicado en 2004

HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry

scientific article published on 28 January 2020

Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families.

artículo científico publicado en 2004

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

scientific article published on 06 December 2012

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry

artículo científico publicado en 2017

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

scientific article published on 09 April 2020

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

artículo científico publicado en 2011

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy ⬇️

artículo científico publicado en 2011

Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?

artículo científico publicado en 2015

Incretin effect of glucagon-like peptide 1 receptor agonist is preserved in presence of ABCC8/SUR1 mutation in β-cell

artículo científico publicado en 2012

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

artículo científico publicado en 2007

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

artículo científico publicado en 2021

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

artículo científico publicado en 2014

KATP channel mutations in congenital hyperinsulinism ⬇️

artículo científico publicado el 1 de febrero de 2011

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

artículo científico publicado en 2006

Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series

artículo científico publicado en 2019

Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications

artículo científico publicado en 2012

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).

artículo científico publicado en 2008

Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization

artículo científico publicado en 2017

Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.

artículo científico publicado en 2012

Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families

artículo científico publicado en 2009

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

artículo científico publicado en 2010

Molecular mechanisms of neonatal hyperinsulinism

artículo científico publicado en 2006

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

artículo científico publicado en 2008

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

artículo científico publicado en 2004

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

artículo científico publicado en 2018

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia

artículo científico publicado en 2013

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

artículo científico publicado en 2013

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

artículo científico publicado en 2015

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

article

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

artículo científico

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

artículo científico publicado en 2012

New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation

artículo científico publicado en 2008

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

artículo científico publicado en 2017

Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

scientific article published on 11 July 2019

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

artículo científico publicado en 2002

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

artículo científico publicado en 2015

Pulmonary hypertension in patients with neurofibromatosis type I.

artículo científico publicado en 2011

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

artículo científico publicado en 2007

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

artículo científico publicado en 2005

Response to Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1

artículo científico publicado en 2018

Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?

artículo científico publicado en 2016

Severe chronic primary neutropenia in adults: report on a series of 108 patients

artículo científico publicado en 2015

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

article

The N363S polymorphism in the glucocorticoid receptor gene is associated with overweight in subjects with type 2 diabetes mellitus.

artículo científico publicado en 2003

The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

artículo científico publicado en 2005

Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule

artículo científico publicado en 2016

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

artículo científico publicado en 2012

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

artículo científico publicado en 2011

Unsolved issues related to human mitochondrial diseases

artículo científico

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

scientific article published on February 2009

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

artículo científico publicado en 2009

Lista de obras de Christine Bellanné-Chantelot

35th Annual Meeting of the European Association for the Study of Diabetes

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes

A syndrome with congenital neutropenia and mutations in G6PC3

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

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

Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.

Childhood onset diabetes posttransplant in a girl with TCF2 mutation ⬇️

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

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

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations

Clinical utility gene card for: Maturity-onset diabetes of the young

Cohen syndrome is associated with major glycosylation defects

Congenital hyperinsulinism: current trends in diagnosis and therapy ⬇️

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

Congenital neutropenia: diagnosis, molecular bases and patient management

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

Diabetes, Associated Clinical Spectrum, Long-term Prognosis and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1 B (HNF1B) Molecular Defects

Diagnosis and management of maturity-onset diabetes of the young

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Epidemiology of congenital neutropenia

Extent of hematopoietic involvement by TET2 mutations in JAK2V617F polycythemia vera ⬇️

Familial focal congenital hyperinsulinism

Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas

Granulopoeisis and leukemogenesis: lessons from congenital neutropenia

HNF1B-related diabetes triggered by renal transplantation.

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment

HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry

Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families.

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy ⬇️

Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?

Incretin effect of glucagon-like peptide 1 receptor agonist is preserved in presence of ABCC8/SUR1 mutation in β-cell

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

KATP channel mutations in congenital hyperinsulinism ⬇️

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series

Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications

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).

Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization

Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.

Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

Molecular mechanisms of neonatal hyperinsulinism

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

Pulmonary hypertension in patients with neurofibromatosis type I.

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy