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Lista de obras de Jean-Louis Mandel

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

artículo científico publicado en 2013

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

artículo científico publicado en 2003

9th international workshop on fragile X syndrome and X-linked mental retardation.

artículo científico publicado en 2000

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

artículo científico publicado en 2020

A PstI RFLP for the human retinoic acid receptor in 17q21

artículo científico publicado en 1988

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern

artículo científico publicado en 1996

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

artículo científico publicado en 1996

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

artículo científico publicado en 2001

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

artículo científico publicado en 1999

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

artículo científico publicado en 2016

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene

artículo científico publicado en 1994

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

artículo científico publicado en 2006

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

artículo científico publicado en 1999

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

artículo científico publicado en 2008

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

artículo científico publicado en 2008

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

artículo científico publicado en 2011

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

artículo científico publicado en 1993

Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis

artículo científico publicado en 1993

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations ⬇️

artículo científico publicado el 1 de diciembre de 1991

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

artículo científico publicado en 2014

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

artículo científico publicado en 2002

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

artículo científico publicado en 2015

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

artículo científico publicado en 2018

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

artículo científico publicado en 2000

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

artículo científico publicado en 1998

Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes

artículo científico publicado en 2004

Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France

artículo científico publicado en 2019

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

artículo científico publicado en 2006

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

artículo científico publicado en 2005

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

artículo científico publicado en 2006

Biomedicine. Huntingtin--profit and loss.

artículo científico publicado en 2001

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

artículo científico publicado en 2003

Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly

artículo científico publicado en 2008

Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disord

artículo científico publicado en 2017

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

artículo científico publicado en 2002

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy ⬇️

artículo científico publicado el 1 de septiembre de 1997

Characterization of the Adrenoleukodystrophy-Related (ALDR, ABCD2) Gene Promoter: Inductibility by Retinoic Acid and Forskolin

article

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

artículo científico publicado en 1998

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

scientific article published on 01 March 2019

Clinical and genetic abnormalities in patients with Friedreich's ataxia

artículo científico publicado en 1996

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

artículo científico publicado en 2013

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

artículo científico publicado en 1997

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

artículo científico publicado en 1996

Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.

artículo científico publicado en 2004

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

scholarly article published in Nature Genetics

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

scientific article published on 19 March 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

artículo científico publicado en 2020

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

artículo científico publicado en 2010

Deletion of bothMTM1 andMTMR1 genes in a boy with myotubular myopathy

article

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

artículo científico publicado en 2001

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

artículo científico publicado en 2007

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

article

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes

Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model.

artículo científico publicado en 2004

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

artículo científico publicado en 2018

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

artículo científico publicado en 2006

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

artículo científico publicado en 2003

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy

artículo científico publicado en 2005

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

artículo científico publicado en 2005

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

artículo científico publicado en 2004

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

artículo científico publicado en 2016

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

artículo científico publicado en 1997

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

artículo científico publicado en 1996

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

artículo científico publicado en 1999

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

artículo científico publicado en 2004

Functional redundancy in the myotubularin family

artículo científico publicado en 2002

G-quadruplex RNA structure as a signal for neurite mRNA targeting

artículo científico publicado en 2011

Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system ⬇️

artículo científico publicado el 1 de enero de 1993

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

artículo científico publicado en 2018

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

artículo científico publicado en 1998

Genomic organization of the adrenoleukodystrophy gene

artículo científico publicado en 1994

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

artículo científico publicado en 2020

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

artículo científico publicado en 2013

Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.

artículo científico publicado en 2004

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

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

artículo científico publicado en 2016

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene

artículo científico publicado en 1994

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

artículo científico publicado en 1999

Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin ⬇️

artículo científico publicado el 1 de octubre de 2003

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

artículo científico publicado en 2005

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

artículo científico publicado en 2011

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation ⬇️

artículo científico publicado el 1 de noviembre de 1992

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

artículo científico publicado en 2017

Isolation and characterization of cDNA clones for human skeletal muscle α actin ⬇️

artículo científico publicado el 11 de junio de 1983

Jean B Dausset, 19 October 1916-6 June 2009

artículo científico publicado en 2009

La révolution génomique du diagnostic des maladies rares

artículo científico publicado en 2012

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways

scientific journal article

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy

artículo científico publicado en 2002

Le point sur le syndrome de Bardet-Biedl

scientific article published on 01 January 2005

Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10

artículo científico publicado en 2013

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.

artículo científico publicado en 2002

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

artículo científico publicado en 1985

MTM1 mutations in X-linked myotubular myopathy

artículo científico publicado en 2000

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

artículo científico publicado en 1994

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

artículo científico publicado en 2010

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

artículo científico publicado en 2004

Monogenic causes of X-linked mental retardation.

artículo científico publicado en 2001

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

artículo científico publicado en 2002

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations

artículo científico publicado en 1998

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

artículo científico publicado en 2012

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

artículo científico publicado en 2001

Mutations de l’amphiphysine 2 (BIN1) dans les myopathies centronucléaires récessives

artículo científico publicado en 2007

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

artículo científico publicado en 2016

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

artículo científico publicado en 2007

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

artículo científico publicado en 2016

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

artículo científico publicado en 1997

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

artículo científico publicado en 1996

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

artículo científico publicado en 2010

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

artículo científico publicado en 2003

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

artículo científico publicado en 2003

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

artículo científico publicado en 2012

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

artículo científico publicado en 2016

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

artículo científico publicado en 2019

Pathogenic and Non-pathogenic Polyglutamine Tracts Have Similar Structural Properties: Towards a Length-dependent Toxicity Gradient

article

Pathological mechanisms in polyglutamine expansion diseases.

artículo científico publicado en 2001

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

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program

artículo científico publicado en 2006

Polyglutamine-containing proteins in schizophrenia.

artículo científico publicado en 1999

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

artículo científico publicado en 2003

Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice

artículo científico publicado en 2002

Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease.

artículo científico publicado en 1999

Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions

artículo científico publicado en 2002

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

artículo científico publicado en 1993

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types

article

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

artículo científico

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

artículo científico publicado en 2009

Sex-specific impact of prenatal androgens on social brain default mode subsystems

artículo científico publicado en 2018

Spatial control of nucleoporin condensation by fragile X-related proteins

artículo científico publicado en 2020

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

artículo científico publicado en 1995

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

article

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

scholarly article

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

artículo científico publicado en 2012

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

artículo científico publicado en 2015

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

article

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

scientific journal article

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

artículo científico publicado en 2003

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles

artículo científico publicado en 2002

The evolutionary origin of peroxisomes: an ER-peroxisome connection.

artículo científico publicado en 2006

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

artículo científico publicado en 1994

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

scientific journal article

The myotubularin family: from genetic disease to phosphoinositide metabolism

artículo científico publicado en 2001

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

artículo científico publicado en 2013

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

artículo científico publicado en 2009

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

artículo científico publicado en 2011

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

artículo científico publicado en 2016

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

artículo científico publicado en 2009

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

artículo científico publicado en 2016

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

artículo científico publicado en 2010

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

artículo científico publicado en 2010

Variation on a trinucleotide theme

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

artículo científico publicado en 2004

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

artículo científico publicado en 2017

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing.

artículo científico publicado en 2013

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

artículo científico publicado en 2013

[23andMed: Geneticist Jean-Louis Mandel's personal experience].

artículo científico publicado en 2015

[Myotubular myopathy]

scientific article published on 01 November 2000

[The RARE 2017 meeting and the French Foundation of Rare Diseases]

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