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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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Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

Clinical genetics, 2013-07, Vol.84 (1), p.31-36

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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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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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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Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

Journal of medical genetics, 2007-08, Vol.44 (8), p.537-540

2007

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PMX2B, a new candidate gene for Hirschsprung's disease

Clinical genetics, 2003-09, Vol.64 (3), p.204-209

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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Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

Clinical genetics, 2008-01, Vol.73 (1), p.89-91

2008

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Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

European journal of medical genetics, 2006-05, Vol.49 (3), p.255-263

2006

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Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

European journal of medical genetics, 2013-09, Vol.56 (9), p.502-505

2013

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Inversion du rythme circadien de la mélatonine dans le syndrome de Smith-Magenis

Revue neurologique (Paris), 2003, Vol.159 (11), p.6S21-6S26

2003

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β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

Journal of medical genetics, 2001-09, Vol.38 (9), p.586-590

2001

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β1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

Journal of medical genetics, 2003-01, Vol.40 (1), p.74

2003

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beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

Journal of medical genetics, 2001-09, Vol.38 (9), p.586-590

2001

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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

European journal of human genetics : EJHG, 2001-05, Vol.9 (5), p.319-327

2001

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DNA polymorphism analysis in families with recurrence of free trisomy 21

American journal of human genetics, 1992-11, Vol.51 (5), p.1015-1027

1992

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Ebstein anomaly associated with rearrangements of chromosomal region 11q

American journal of medical genetics, 1998-11, Vol.80 (2), p.157-159

1998

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Werner mesomelic dysplasia with Hirschsprung disease

American journal of medical genetics, 2003-12, Vol.123A (2), p.186-189

2003

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Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome

Revue neurologique, 2003-11, Vol.159 (11 Suppl), p.6S21-6S26

2003

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Characterization of a human ovarian adenocarcinoma line, IGROV1, in tissue culture and in nude mice

Cancer research (Chicago, Ill.), 1985-10, Vol.45 (10), p.4970-4979

1985

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Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

Clinical dysmorphology, 2001-10, Vol.10 (4), p.253-255

2001

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Functional disomy of the Xq28 chromosome region

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.579-585

2005

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Reflection analysis: a new optical method. Evidence of mitotic inter-chromosomal RNA

Cytogenetic and genome research, 1986, Vol.41 (1), p.54-55

1986

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Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.699-706

2002

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

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

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

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

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

Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

PMX2B, a new candidate gene for Hirschsprung's disease

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

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

Inversion du rythme circadien de la mélatonine dans le syndrome de Smith-Magenis

β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

β1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

DNA polymorphism analysis in families with recurrence of free trisomy 21

Ebstein anomaly associated with rearrangements of chromosomal region 11q

Werner mesomelic dysplasia with Hirschsprung disease

Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome

Characterization of a human ovarian adenocarcinoma line, IGROV1, in tissue culture and in nude mice

Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

Functional disomy of the Xq28 chromosome region

Reflection analysis: a new optical method. Evidence of mitotic inter-chromosomal RNA

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

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