M. Raynaud

发表

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

C. Barthélémy, A. Toutain, C. Andres, 2016, Molecular Psychiatry.

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

B. V. van Bon, K. Friend, M. Shaw, 2015, American journal of human genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation

P. Vourc'h, L. Mignon, C. Andres, 2011, Neuroscience Letters.

Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

P. Vourc'h, C. Andres, M. Raynaud, 2018, Annals of clinical biochemistry.

Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Duplication of exon 2 of the GPC3 gene in a case of Simpson‐Golabi‐Behmel syndrome

A. Toutain, M. Raynaud, A. David, 2014, American journal of medical genetics. Part A.

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

D. Bonneau, M. Raynaud, T. Lebouvier, 2008, American journal of medical genetics. Part A.

Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium

J. Gécz, B. D. de Vries, S. Lenzner, 2007, Human mutation.

Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices.

L. Fauchier, D. Babuty, P. Magro, 2011, International journal of cardiology.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Sander B Nabuurs, Lionel Willatt, Jamel Chelly, 2006, American journal of human genetics.

Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families

A. Toutain, C. Moraine, M. Raynaud, 2000, European Journal of Human Genetics.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

J. Gécz, Wei Chen, R. Reinhardt, 2011, European Journal of Human Genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis

J. Fryns, B. Gilbert-Dussardier, D. Lacombe, 2006, Neurogenetics.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

Is it possible to identify infrahissian cardiac conduction abnormalities in myotonic dystrophy by non-invasive methods?

L. Fauchier, D. Babuty, P. Cosnay, 1999, Heart.

Phenotype and genotype in females with POU3F4 mutations

F. Denoyelle, A. Toutain, M. Raynaud, 2009, Clinical Genetics.

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

J. Gécz, H. Ropers, H. Van Esch, 2004, American journal of human genetics.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

A. Toutain, N. Romero, L. Pasquier, 2013, European Journal of Human Genetics.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

A. Toutain, L. Pasquier, S. Mercier, 2013, European Journal of Human Genetics.

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

S. Haas, H. Ropers, V. Kalscheuer, 2013, American journal of medical genetics. Part A.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age This article has been corrected since online publication and a corrigendum is also printed in this issue

A. Toutain, N. Romero, L. Pasquier, 2013 .

Significance of late ventricular potentials in myotonic dystrophy.

L. Fauchier, D. Babuty, P. Cosnay, 1999, The American journal of cardiology.

In-frame deletion in MECP2 causes mild nonspecific mental retardation.

J. Fryns, T. Kleefstra, H. van Bokhoven, 2002, American journal of medical genetics.

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

K. Õunap, H. Esch, M. Raynaud, 2014, Human mutation.

Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening

A. Toutain, C. Andres, C. Moraine, 2000, European Journal of Human Genetics.

The incidence of Rett syndrome in France.

L. Pasquier, C. Philippe, P. Jonveaux, 2006, Pediatric neurology.

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

P. Marynen, J. Fryns, M. Raynaud, 2003, Journal of medical genetics.

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

J. Gécz, P. Marynen, S. Lenzner, 2008, European Journal of Human Genetics.

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

H. Ropers, J. Fryns, J. Schaffer, 2002, Nature Genetics.

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

S. Claes, H. Kremer, A. Toutain, 1999, American journal of medical genetics.

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations

A. Toutain, N. Winer, A. Verloes, 2014, American journal of medical genetics. Part A.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Albert David, Marie Gomot, Christian Andres, 2004, American journal of human genetics.

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

P. Thomas, J. Fryns, H. van Bokhoven, 2002, American journal of human genetics.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

J. Gécz, P. Marynen, H. Van Esch, 2005, American journal of human genetics.

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

E. Haan, J. Gécz, C. Schwartz, 2014, American journal of human genetics.

MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation

A. Toutain, A. Verloes, V. Kalscheuer, 2003, American journal of medical genetics. Part A.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Fryns, T. Kleefstra, 2010, Molecular Psychiatry.

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

S. Haas, Wei Chen, H. Richard, 2009, The HUGO Journal.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Hugues Richard, Stefan A. Haas, 2009, The HUGO Journal.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

P. Marynen, R. Stevenson, C. Schwartz, 2008, Genome research.

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

A. Toutain, M. Raynaud, L. Villard, 1996, American journal of medical genetics.

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

J. Gécz, A. Addington, J. Rapoport, 2012, Molecular Psychiatry.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

architecture-driven DNA breaks and break-induced replication duplications mediated by genomicMECP 2 Nonrecurrent Material Supplemental

P. Marynen, R. Stevenson, C. Schwartz, 2008 .

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

J. Gécz, C. Skinner, C. Schwartz, 2010, American journal of human genetics.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

A. Toutain, A. Verloes, B. Gérard, 2021, Human mutation.

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

C. Romano, J. Opitz, M. Pembrey, 2003, European Journal of Human Genetics.

UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders

J. Gécz, M. Raynaud, F. Laumonnier, 2014 .

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

L. Pasquier, C. Philippe, P. Jonveaux, 2006, European journal of medical genetics.

Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation

R. Reinhardt, S. Lenzner, H. Ropers, 2006, Human mutation.

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

Wei Chen, A. Latos-Bieleńska, H. Omran, 2006, Human Genetics.

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.

A. Toutain, C. Andres, C. Moraine, 2000, European journal of human genetics : EJHG.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

D. Campion, C. Charon, A. Toutain, 2013, Behavior Genetics.

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

J. Gécz, H. Ropers, J. Fryns, 2010, PathoGenetics.

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

M. Raynaud, S. Elalaoui, A. Sefiani, 2010, The Turkish journal of pediatrics.

Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.

A. Toutain, M. Raynaud, L. Colleaux, 1999, American journal of medical genetics.

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

D. Campion, C. Charon, A. Toutain, 2013, Behavior Genetics.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

J. Chelly, C. Moraine, M. Raynaud, 1999, American journal of medical genetics.

X‐linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region

A. Toutain, C. Moraine, M. Raynaud, 1994, Clinical genetics.

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

H. Ropers, V. Kalscheuer, A. Tzschach, 2006, European Journal of Human Genetics.

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.

M. Raynaud, C. Francannet, N. Ronce, 1998, American journal of medical genetics.

Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome

A. Latos-Bieleńska, H. Ropers, A. Tzschach, 2010, Clinical genetics.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

J. Chelly, S. Traynelis, Hongjie Yuan, 2020, Movement disorders : official journal of the Movement Disorder Society.

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

P. Marynen, K. Devriendt, H. Ropers, 2003, American journal of medical genetics. Part A.

X chromosome and infantile autism

C. Barthélémy, G. Lelord, M. Raynaud, 1996, Biological Psychiatry.

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

A. Toutain, P. Vourc'h, C. Andres, 2019, Neuroscience.

Twenty‐five novel mutations including duplications in the ATP7A gene

A. Toutain, S. Blesson, C. Moraine, 2011, Clinical genetics.

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus

A. Munnich, J. Steffann, M. Raynaud, 2019, Prenatal diagnosis.

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

The evolution of infrahissian conduction time in myotonic dystrophy patients: clinical implications

L. Fauchier, D. Babuty, S. Pellieux, 2011, Heart.

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

Thomas Bourgeron, Richard Delorme, Marion Leboyer, 2011, BMC Medical Genetics.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Hettema, J. Fryns, 2010, Molecular Psychiatry.