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NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

Clinical genetics, 2018-08, Vol.94 (2), p.264-268

2018

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EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder

Clinical genetics, 2018-06, Vol.93 (6), p.1141-1147

2018

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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Journal of medical genetics, 2009-12, Vol.46 (12), p.847-855

2009

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Novel genes associated with isolated optic nerve hypoplasia in 6 family trios ‐ a clinical and exome study

Acta ophthalmologica (Oxford, England), 2017-09, Vol.95 (S259), p.n/a

2017

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P-714 Prevalence of chromosomal abnormalities in oocyte donor candidates: a French survey of over 8200 karyotypes

Human reproduction (Oxford), 2024-07, Vol.39 (Supplement_1)

2024

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Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

European journal of medical genetics, 2009-09, Vol.52 (5), p.328-332

2009

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Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome

The EMBO journal, 1998-01, Vol.17 (1), p.325-333

1998

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What can we learn from old microdeletion syndromes using array-CGH screening?

Clinical genetics, 2012-07, Vol.82 (1), p.41-47

2012

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Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report

Human reproduction (Oxford), 2006-08, Vol.21 (8), p.2052-2056

2006

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Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening

Prenatal diagnosis, 2007-11, Vol.27 (11), p.1062-1063

2007

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Expression of Fragile Sites Triggers Intrachromosomal Mammalian Gene Amplification and Sets Boundaries to Early Amplicons

Cell, 1997-04, Vol.89 (2), p.215-225

1997

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Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

Prenatal diagnosis, 2007-03, Vol.27 (3), p.279-284

2007

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ARHGEF26/SGEF controls fovea formation, immunity, neurodevelopment and arteriosclerosis

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

2012

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De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation

Fetal diagnosis and therapy, 2007-01, Vol.22 (4), p.306-312

2007

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Congenital Macular Dystrophy, Corpus Callosum Agenesis, Hippocampi Hypoplasia - A Novel Neuro-Ophthalmic Syndrome: Case Report

Ophthalmic genetics, 2012-03, Vol.33 (1), p.39-43

2012

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Fetal-maternal chimerism in peritoneal tissue implants after tubal ectopic pregnancy

Gynécologie, obstétrique & fertilité, 2016-05, Vol.44 (5), p.309-310

2016

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Structural chromosomal mosaicism and prenatal diagnosis

Prenatal diagnosis, 2004-02, Vol.24 (2), p.101-103

2004

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A novel congenital Stargardt‐like macular dystrophy

Acta ophthalmologica (Oxford, England), 2009-09, Vol.87 (s244), p.0-0

2009

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Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report

Human reproduction (Oxford), 2006-08, Vol.21 (8), p.2049-2053

2006

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CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

European journal of human genetics : EJHG, 2003-06, Vol.11 (6), p.452-456

2003

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Semilobar holoprosencephaly prenatal diagnosis : an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

Prenatal diagnosis, 2007, Vol.27 (3), p.279-284

2007

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Apport de la CGH-array au diagnostic prénatal d’anomalies génomiques chez des fœtus présentant des signes malformatifs, avec un caryotype apparemment équilibré

Ingénierie et recherche biomédicale, 2007-11, Vol.28 (5), p.239-244

2007

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NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Novel genes associated with isolated optic nerve hypoplasia in 6 family trios ‐ a clinical and exome study

P-714 Prevalence of chromosomal abnormalities in oocyte donor candidates: a French survey of over 8200 karyotypes

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome

What can we learn from old microdeletion syndromes using array-CGH screening?

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report

Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening

Expression of Fragile Sites Triggers Intrachromosomal Mammalian Gene Amplification and Sets Boundaries to Early Amplicons

Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

ARHGEF26/SGEF controls fovea formation, immunity, neurodevelopment and arteriosclerosis

De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

Congenital Macular Dystrophy, Corpus Callosum Agenesis, Hippocampi Hypoplasia - A Novel Neuro-Ophthalmic Syndrome: Case Report

Fetal-maternal chimerism in peritoneal tissue implants after tubal ectopic pregnancy

Structural chromosomal mosaicism and prenatal diagnosis

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes: Prenatal diagnosis of the 22q11.2 deletion of 272 fetuses

A novel congenital Stargardt‐like macular dystrophy

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

Semilobar holoprosencephaly prenatal diagnosis : an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

Apport de la CGH-array au diagnostic prénatal d’anomalies génomiques chez des fœtus présentant des signes malformatifs, avec un caryotype apparemment équilibré

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