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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Journal of medical genetics, 2004-04, Vol.41 (4), p.241-248

2004

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Journal of medical genetics, 2006-11, Vol.43 (11), p.843-849

2006

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Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

Clinical genetics, 2009-08, Vol.76 (2), p.188-194

2009

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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Journal of medical genetics, 2010-12, Vol.47 (12), p.797-802

2010

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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Clinical genetics, 2016-01, Vol.89 (1), p.68-73

2016

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19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

Journal of medical genetics, 2009-09, Vol.46 (9), p.635-640

2009

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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Journal of medical genetics, 2012-02, Vol.49 (2), p.104-109

2012

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Spectrum of NSD1 mutations in Sotos and Weaver syndromes

Journal of medical genetics, 2003-06, Vol.40 (6), p.436-440

2003

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La CGH microarray : principe et applications en pathologie constitutionnelle

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2005-10, Vol.12 (10), p.1515-1520

2005

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Approche diagnostique du sujet présentant un retard mental sévère et syndromique

Archives de pédiatrie (Paris), 2004, Vol.11 (6), p.566-568

2004

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Évaluation de la puce à ADN SpectralChip pour la détection des déséquilibres chromosomiques observés en pathologie constitutionnelle

Annales de biologie clinique (Paris), 2004-03, Vol.62 (2), p.203-212

2004

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A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

European journal of medical genetics, 2013-12, Vol.56 (12), p.683-685

2013

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Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Journal of medical genetics, 2002-08, Vol.39 (8), p.594-596

2002

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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1998-2013

2018

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Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?

Journal of medical genetics, 2005-02, Vol.42 (2), p.166-171

2005

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NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

Journal of medical genetics, 2004-12, Vol.41 (12), p.e128-e128

2004

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Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Journal of medical genetics, 2003-04, Vol.40 (4), p.300-303

2003

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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

Journal of medical genetics, 2002-04, Vol.39 (4), p.266-270

2002

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Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

American journal of human genetics, 2007-05, Vol.80 (5), p.988-993

2007

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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

American journal of human genetics, 2008-05, Vol.82 (5), p.1150-1157

2008

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Recognition and cleavage site of the intron-encoded omega transposase

Proceedings of the National Academy of Sciences - PNAS, 1988-08, Vol.85 (16), p.6022-6026

1988

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ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

Journal of medical genetics, 2000-10, Vol.37 (10), p.746-751

2000

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A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

The Journal of experimental medicine, 2013-11, Vol.210 (12), p.2503-2513

2013

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Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

American journal of human genetics, 2005-02, Vol.76 (2), p.334-339

2005

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Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

Clinical genetics, 2001-09, Vol.60 (3), p.212-219

2001

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

La CGH microarray : principe et applications en pathologie constitutionnelle

Approche diagnostique du sujet présentant un retard mental sévère et syndromique

Évaluation de la puce à ADN SpectralChip pour la détection des déséquilibres chromosomiques observés en pathologie constitutionnelle

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Recognition and cleavage site of the intron-encoded omega transposase

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

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