Claude BESMOND | Institut Imagine

Présentation

PhD, HDR, CR, Chercheur bénévole

Claude BESMOND

Génétique des maladies rares ophtalmologiques, auditives et mitochondriales

Contact :

01 42 75 45 54

claude.besmond@inserm.fr

À propos

Après avoir été directeur du laboratoire de Génétique Translationnelle, je suis maintenant chercheur bénévole.

Projet scientifique

Je travaille sur la génétique des maladies neurologiques pédiatriques rares.

Publications scientifiques

Publications

2024

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorde..., Eur J Med Genet
2024

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leuko..., Hum Mol Genet
2024

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated w..., J Clin Invest
2023

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorde..., Am J Hum Genet
2022

Biallelic variants in are associated with low muscle cardiolipin levels, lea..., HGG Adv
2021

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism., Ann Neurol
2021

Normal transferrin patterns in congenital disorders of glycosylation with Gol..., Clin Chim Acta
2021

Biallelic mutations presenting as sideroblastic anemia., Haematologica
2020

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or b..., J Med Genet
2020

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit..., Brain
2020

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term ou..., Epilepsia
2020

PRPS1 loss-of-function variants, from isolated hearing loss to severe congeni..., Eur J Med Genet
2020

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation sy..., Neuromuscul Disord
2019

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)
2019

Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia., Eur J Pediatr
2019

RMND1 mutations in two siblings: Severe renal hypoplasia but different levels..., Arch Pediatr
2019

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet
2019

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism
2019

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability..., Brain
2019

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfu..., Psychiatr Genet
2018

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet ph..., EMBO Mol Med
2018

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet
2018

IQSEC2-related encephalopathy in males and females: a comparative study inclu..., Genet Med
2018

High predictive value of brain MRI imaging in primary mitochondrial respirato..., J Med Genet
2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet
2017

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial ..., Schizophr Res
2017

Mutations in the novel gene FOPV are associated with familial autosomal domin..., Liver Int
2017

CSNK2B splice site mutations in patients cause intellectual disability with o..., Hum Mutat
2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet
2016

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet
2016

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics
2015

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics
2014

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet
2013

Pathways systematically associated to Hirschsprung's disease., Orphanet J Rare Dis
2009

Evaluation of methods for amplification of picogram amounts of total RNA for ..., BMC Genomics
2008

Stabilization of RNA during laser capture microdissection by performing exper..., RNA
2008

Preparing and using M13-derived vectors., Curr Protoc Mol Biol
2007

Decreased expression of Intestinal I- and L-FABP levels in rare human genetic..., Histochem Cell Biol
2005

GeneRetriever: software to extract all genes and transcripts in between two g..., Biotechniques
2005

Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly., Am J Med Genet A
2005

Polymorphisms of the receptor of advanced glycation endproducts (RAGE) and th..., Diabetes Metab
2003

Enhanced cloning efficiency of mouse bone marrow macrophage progenitors corre..., Microbes Infect
2003

Characterization of a putative type IV aminophospholipid transporter P-type A..., Mamm Genome
2001

The mannose binding lectin gene influences the severity of chronic liver dise..., J Med Genet
2001

A simple approach to the characterization of three common Indian beta-thalass..., Hemoglobin
1999

Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in ..., Eur J Immunogenet
1999

Association of variant alleles of mannose binding lectin with severity of pul..., BMJ
1999

Genetic polymorphism of the mannose-binding protein gene in children with sic..., Eur J Hum Genet
1999

Genotyping of the three major allelic variants of the human mannose-binding l..., Hum Mutat
1999

Evaluation of parental mitochondrial inheritance in neonates born after intra..., Am J Hum Genet
1999

Potential of denaturing gradient gel electrophoresis for scanning of beta-tha..., Am J Hematol
1997

Polymorphism in exon 10 of the human coagulation factor V gene in a populatio..., Hum Genet
1997

Molecular analysis of the insulin receptor gene for prenatal diagnosis of lep..., Prenat Diagn
1997

Microsatellite polymorphism in the promoter sequence of the elongation factor..., J Clin Microbiol
1996

Severe resistance to insulin and insulin-like growth factor-I in cells from a..., Metabolism
1996

Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes ..., J Clin Endocrinol Metab
1996

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in t..., Hum Genet
1995

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with ..., Hum Mol Genet

Présentation

À propos

Projet scientifique

Publications scientifiques

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorde..., Eur J Med Genet

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leuko..., Hum Mol Genet

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated w..., J Clin Invest

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorde..., Am J Hum Genet

Biallelic variants in are associated with low muscle cardiolipin levels, lea..., HGG Adv

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism., Ann Neurol

Normal transferrin patterns in congenital disorders of glycosylation with Gol..., Clin Chim Acta

Biallelic mutations presenting as sideroblastic anemia., Haematologica

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or b..., J Med Genet

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit..., Brain

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term ou..., Epilepsia

PRPS1 loss-of-function variants, from isolated hearing loss to severe congeni..., Eur J Med Genet

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation sy..., Neuromuscul Disord

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)

Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia., Eur J Pediatr

RMND1 mutations in two siblings: Severe renal hypoplasia but different levels..., Arch Pediatr

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability..., Brain

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfu..., Psychiatr Genet

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet ph..., EMBO Mol Med

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet

IQSEC2-related encephalopathy in males and females: a comparative study inclu..., Genet Med

High predictive value of brain MRI imaging in primary mitochondrial respirato..., J Med Genet

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial ..., Schizophr Res

Mutations in the novel gene FOPV are associated with familial autosomal domin..., Liver Int

CSNK2B splice site mutations in patients cause intellectual disability with o..., Hum Mutat

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet

Pathways systematically associated to Hirschsprung's disease., Orphanet J Rare Dis

Evaluation of methods for amplification of picogram amounts of total RNA for ..., BMC Genomics

Stabilization of RNA during laser capture microdissection by performing exper..., RNA

Preparing and using M13-derived vectors., Curr Protoc Mol Biol

Decreased expression of Intestinal I- and L-FABP levels in rare human genetic..., Histochem Cell Biol

GeneRetriever: software to extract all genes and transcripts in between two g..., Biotechniques

Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly., Am J Med Genet A

Polymorphisms of the receptor of advanced glycation endproducts (RAGE) and th..., Diabetes Metab

Enhanced cloning efficiency of mouse bone marrow macrophage progenitors corre..., Microbes Infect

Characterization of a putative type IV aminophospholipid transporter P-type A..., Mamm Genome

The mannose binding lectin gene influences the severity of chronic liver dise..., J Med Genet

A simple approach to the characterization of three common Indian beta-thalass..., Hemoglobin

Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in ..., Eur J Immunogenet

Association of variant alleles of mannose binding lectin with severity of pul..., BMJ

Genetic polymorphism of the mannose-binding protein gene in children with sic..., Eur J Hum Genet

Genotyping of the three major allelic variants of the human mannose-binding l..., Hum Mutat

Evaluation of parental mitochondrial inheritance in neonates born after intra..., Am J Hum Genet

Potential of denaturing gradient gel electrophoresis for scanning of beta-tha..., Am J Hematol

Polymorphism in exon 10 of the human coagulation factor V gene in a populatio..., Hum Genet

Molecular analysis of the insulin receptor gene for prenatal diagnosis of lep..., Prenat Diagn

Microsatellite polymorphism in the promoter sequence of the elongation factor..., J Clin Microbiol

Severe resistance to insulin and insulin-like growth factor-I in cells from a..., Metabolism

Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes ..., J Clin Endocrinol Metab

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in t..., Hum Genet

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with ..., Hum Mol Genet