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Overview of hospitalizations in women undergoing oocyte retrieval for ART in the French national health data system

Human reproduction (Oxford), 2021-09, Vol.36 (10), p.2769-2781

2021

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Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease

Clinical genetics, 2017-03, Vol.91 (3), p.431-440

2017

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Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

Human molecular genetics, 2015-01, Vol.24 (2), p.463-470

2015

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Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

Journal of medical genetics, 2010-01, Vol.47 (1), p.59-65

2010

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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

Clinical genetics, 2009-10, Vol.76 (4), p.357-371

2009

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Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation

Familial cancer, 2019-01, Vol.18 (1), p.1-8

2019

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Technique d’hybridation génomique comparative sur microréseau d’ADN et fœtopathologie

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-07, Vol.17 (7), p.1119-1123

Jonveaux, P.

2010

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Fetal chromosome technique by microarray-based comparative genomic hybridization

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-07, Vol.17 (7), p.1119-1123

Jonveaux, P

2010

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Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?

Familial cancer, 2018, Vol.17 (1), p.5-14

2018

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MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies

Clinical genetics, 2012-11, Vol.82 (5), p.499-501

2012

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A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations

Prenatal diagnosis, 2010-04, Vol.30 (4), p.333-341

2010

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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

Neurology, 2009-10, Vol.73 (14), p.1111

2009

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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

Breast cancer research and treatment, 2013-08, Vol.141 (1), p.135-144

2013

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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Human mutation, 2005-01, Vol.25 (1), p.56-63

2005

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Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

Journal of endocrinological investigation, 2014, Vol.37 (1), p.1-7

2014

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Adverse obstetric and perinatal outcome with in vitro fertilization technology: A French nationwide population-based study

Gynécologie, obstétrique, fertilité & sénologie, 2020-04, Vol.48 (4), p.351-358

2020

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Gene–disease relationship discovery based on model-driven data integration and database view definition

Bioinformatics, 2009-01, Vol.25 (2), p.230-236

2009

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Medical genetics

Pathologie biologie (Paris), 2010-10, Vol.58 (5), p.315-315

Jonveaux, P

2010

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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

Journal of medical genetics, 2008-03, Vol.45 (3), p.172-178

2008

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Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

Molecular genetics and metabolism, 2013, Vol.110, p.S62-S65

2013

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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Journal of medical genetics, 2003-09, Vol.40 (9), p.690-696

2003

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Terminal deletion of the long arm of chromosome 10

Clinical genetics, 2004-04, Vol.65 (4), p.294-298

2004

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High Frequency of t(12;21) in Childhood B-Lineage Acute Lymphoblastic Leukemia

Blood, 1995-12, Vol.86 (11), p.4263-4269

1995

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Aberrant GRIA3 transcripts with multi‐exon duplications in a family with X‐linked mental retardation

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1280-1289

2009

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Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization

Journal of human genetics, 2006-09, Vol.51 (9), p.815-821

2006

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Overview of hospitalizations in women undergoing oocyte retrieval for ART in the French national health data system

Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation

Technique d’hybridation génomique comparative sur microréseau d’ADN et fœtopathologie

Fetal chromosome technique by microarray-based comparative genomic hybridization

Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

Adverse obstetric and perinatal outcome with in vitro fertilization technology: A French nationwide population-based study

Gene–disease relationship discovery based on model-driven data integration and database view definition

Medical genetics

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Terminal deletion of the long arm of chromosome 10

High Frequency of t(12;21) in Childhood B-Lineage Acute Lymphoblastic Leukemia

Aberrant GRIA3 transcripts with multi‐exon duplications in a family with X‐linked mental retardation

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization

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