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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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Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia

Human reproduction (Oxford), 2011-11, Vol.26 (11), p.2944-2949

2011

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Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories

Prenatal diagnosis, 2012-04, Vol.32 (4), p.329-335

2012

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Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

Prenatal diagnosis, 2011-05, Vol.31 (5), p.500-508

2011

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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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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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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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3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

Clinical genetics, 2012-08, Vol.82 (2), p.187-192

2012

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Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

Human reproduction (Oxford), 2001-01, Vol.16 (1), p.82-90

2001

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Familial sperm polyploidy induced by genetic spermatogenesis failure: Case report

Human reproduction (Oxford), 2001-12, Vol.16 (12), p.2646-2651

2001

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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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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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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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Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia

Human reproduction (Oxford), 2012-11, Vol.27 (11), p.3337-3346

2012

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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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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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Lack of submicroscopic rearrangements involving telomeres in reproductive failures

Human reproduction (Oxford), 2002-05, Vol.17 (5), p.1154-1157

2002

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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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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

European journal of human genetics : EJHG, 2018, Vol.26 (S), p.628-629

2018

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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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Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia

Journal of medical genetics, 2001-11, Vol.38 (11), p.802-806

2001

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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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Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

American journal of medical genetics. Part A, 2006-06, Vol.140A (12), p.1285-1296

2006

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NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder

Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia

Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories

Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

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

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

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

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

Familial sperm polyploidy induced by genetic spermatogenesis failure: Case report

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

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

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

Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia

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

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

Lack of submicroscopic rearrangements involving telomeres in reproductive failures

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

Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

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

Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia

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

Structural chromosomal mosaicism and prenatal diagnosis

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

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