Lista de obras - Dominique Bonneau - Dominio Público Uruguay

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning

artículo científico publicado en 2016

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

artículo científico publicado en 2012

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

artículo científico publicado en 2011

A phase II, open-label evaluation of cysteamine tolerability in patients with Huntington's disease.

artículo científico publicado en 2014

A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease

artículo científico publicado en 2017

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

artículo científico publicado en 2014

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

artículo científico publicado en 2015

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2017

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

artículo científico publicado en 2006

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Binder phenotype in mothers affected with autoimmune disorders

scientific article published on 07 December 2011

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

artículo científico publicado en 2011

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

artículo científico publicado en 2010

CLUH couples mitochondrial distribution to the energetic and metabolic status.

artículo científico publicado en 2017

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

artículo científico publicado en 2016

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

artículo científico publicado en 2012

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

artículo científico publicado en 2011

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

artículo científico publicado en 2016

Dental abnormalities in Schimke immuno-osseous dysplasia.

artículo científico publicado en 2012

Dermatologic features of Smith-Magenis syndrome

artículo científico publicado en 2015

Dissociation between decision-making under risk and decision-making under ambiguity in premanifest and manifest Huntington's disease

artículo científico publicado en 2017

Dominant optic atrophy.

artículo científico publicado en 2012

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

artículo científico publicado en 2014

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

artículo científico publicado en 2014

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots

artículo científico publicado en 2014

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

artículo científico publicado en 2009

Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).

artículo científico publicado en 2014

Fetal intracerebral hemorrhage and cataract: think COL4A1

artículo científico publicado en 2014

Four-Year Follow-up of Diagnostic Service in USH1 Patients

artículo científico publicado en 2011

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation

artículo científico publicado en 2017

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

artículo científico publicado en 2012

Genetically determined optic neuropathies

scientific article published on February 2010

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

artículo científico publicado en 2010

Heterozygous OPA1 mutations in Behr syndrome

artículo científico publicado en 2011

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

artículo científico publicado en 2013

Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults

artículo científico publicado en 2009

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

artículo científico publicado en 2011

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

artículo científico publicado en 2010

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

artículo científico publicado en 2007

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

artículo científico publicado en 2014

In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.

artículo científico publicado en 2015

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

artículo científico publicado en 2016

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

artículo científico publicado en 2016

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

artículo científico publicado en 2011

Intervertebral disc characterization by shear wave elastography: An in vitro preliminary study

artículo científico publicado en 2014

Is ABCC6 a genuine mitochondrial protein?

artículo científico publicado en 2013

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency

artículo científico publicado en 2011

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

artículo científico publicado en 2014

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

artículo científico publicado en 2014

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.

artículo científico publicado en 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Mitochondrial dysfunction affecting visual pathways

artículo científico publicado en 2014

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

artículo científico publicado en 2010

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

artículo científico publicado en 2010

Multi-system neurological disease is common in patients with OPA1 mutations

artículo científico publicado en 2010

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

artículo científico publicado en 2016

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

article

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

artículo científico publicado en 2013

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

artículo científico publicado en 2017

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

artículo científico publicado en 2017

Never too old to harbour a young man's disease?

artículo científico publicado en 2011

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2015

Non-invasive biomechanical characterization of intervertebral discs by shear wave ultrasound elastography: a feasibility study

artículo científico publicado en 2014

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

artículo científico publicado en 2017

Novel pathophysiological mechanisms in dominant optic atrophy beyond the mitochondrial dynamics equilibrium

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

scientific article published on 23 August 2015

OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

artículo científico publicado en 2012

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

scientific article published on May 2010

Perspectives of drug-based neuroprotection targeting mitochondria.

artículo científico

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

artículo científico publicado en 2017

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

artículo científico

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

artículo científico publicado en 2006

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family

scientific article published on 20 April 2012

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

artículo científico publicado en 2012

Rationale and protocol for using a smartphone application to study autism spectrum disorders: SMARTAUTISM.

artículo científico publicado en 2016

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

artículo científico publicado en 2015

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

artículo científico publicado en 2013

Reliable protocol for shear wave elastography of lower limb muscles at rest and during passive stretching

artículo científico publicado en 2015

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

artículo científico publicado en 2013

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45

article

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

artículo científico publicado en 2013

Schimke immunoosseous dysplasia: defining skeletal features

artículo científico publicado en 2009

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

artículo científico publicado en 2010

Sensorineural hearing loss in OPA1-linked disorders.

artículo científico publicado en 2013

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

artículo científico publicado en 2011

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

artículo científico publicado en 2011

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

artículo científico publicado en 2012

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

artículo científico publicado en 2017

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

artículo científico publicado en 2016

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

artículo científico publicado en 2016

The neural substrates of script knowledge deficits as revealed by a PET study in Huntington's disease.

artículo científico

Theory of mind and empathy in preclinical and clinical Huntington's disease

artículo científico publicado en 2015

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

artículo científico publicado en 2011

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Lista de obras de Dominique Bonneau

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

A phase II, open-label evaluation of cysteamine tolerability in patients with Huntington's disease.

A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Binder phenotype in mothers affected with autoimmune disorders

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

CLUH couples mitochondrial distribution to the energetic and metabolic status.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Clinical and genetic characteristics of late-onset Huntington's disease

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Dental abnormalities in Schimke immuno-osseous dysplasia.

Dermatologic features of Smith-Magenis syndrome

Dissociation between decision-making under risk and decision-making under ambiguity in premanifest and manifest Huntington's disease

Dominant optic atrophy.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).

Fetal intracerebral hemorrhage and cataract: think COL4A1

Four-Year Follow-up of Diagnostic Service in USH1 Patients

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

Genetically determined optic neuropathies

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Heterozygous OPA1 mutations in Behr syndrome

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Intervertebral disc characterization by shear wave elastography: An in vitro preliminary study

Is ABCC6 a genuine mitochondrial protein?

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Mitochondrial dysfunction affecting visual pathways

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Multi-system neurological disease is common in patients with OPA1 mutations

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Never too old to harbour a young man's disease?

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Non-invasive biomechanical characterization of intervertebral discs by shear wave ultrasound elastography: a feasibility study

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

Novel pathophysiological mechanisms in dominant optic atrophy beyond the mitochondrial dynamics equilibrium

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

Perspectives of drug-based neuroprotection targeting mitochondria.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature