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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Journal of medical genetics, 2006-03, Vol.43 (3), p.211-217

2006

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Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report

Human reproduction (Oxford), 2007-04, Vol.22 (4), p.1037-1041

2007

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Gestational age-related reference values for amniotic fluid organic acids

Prenatal diagnosis, 2010-01, Vol.30 (1), p.43-48

2010

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Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion

European journal of medical genetics, 2006-11, Vol.49 (6), p.487-493

2006

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Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

Journal of medical genetics, 2000-07, Vol.37 (7), p.525-528

2000

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Prenatal diagnosis and characterization of an analphoid marker chromosome 16

Prenatal diagnosis, 2004-09, Vol.24 (9), p.733-736

2004

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Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

Prenatal diagnosis, 1998-10, Vol.18 (10), p.1055-1060

1998

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Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

Prenatal diagnosis, 1999-01, Vol.19 (1), p.49-53

1999

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Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

Journal of medical genetics, 2001-12, Vol.38 (12), p.850-852

2001

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Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature

Prenatal diagnosis, 1999-03, Vol.19 (3), p.282-286

1999

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Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

Prenatal diagnosis, 1989-04, Vol.9 (4), p.255-269

1989

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SRY-negative XX fetus with complete male phenotype

The Lancet (British edition), 1994-01, Vol.343 (8891), p.240-241

1994

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Contribution of genetics

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1999, Vol.6 Suppl 2, p.246s-248s

1999

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Duplication of the long arm of chromosome 13 secondary to a recombination in a maternal intrachromosomal insertion (shift)

Prenatal diagnosis, 1990-12, Vol.10 (12), p.787-794

1990

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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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Apport de la génétique

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1999, Vol.6, p.S246-S248

1999

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Serum hCG assay: A method for detection of contamination of fetal blood samples

Prenatal diagnosis, 1993-11, Vol.13 (11), p.1043-1046

1993

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Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter

Journal of medical genetics, 1993-06, Vol.30 (6), p.521-524

1993

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Maternal serum screening in cases of mosaic and translocation Down syndrome

Prenatal diagnosis, 2008-08, Vol.28 (8), p.699-703

2008

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Reproductive genetic counselling in non‐mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

Human reproduction (Oxford), 2003-02, Vol.18 (2), p.271-275

2003

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Anti-Müllerian hormone in early human development

Early human development, 1993-06, Vol.33 (2), p.91-99

1993

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Prenatal Diagnosis in France

European journal of human genetics : EJHG, 1997-01, Vol.5 (Suppl 1), p.26-31

1997

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Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Prenatal diagnosis, 2006-03, Vol.26 (3), p.231-238

2006

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Deletion of band 13q21 is compatible with normal phenotype

Human genetics, 1985-01, Vol.70 (1), p.87-91

1985

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Amniotic fluid digestive enzymes: Diagnostic value in fetal gastrointestinal obstructions

Prenatal diagnosis, 1994-10, Vol.14 (10), p.973-979

1994

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report

Gestational age-related reference values for amniotic fluid organic acids

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

Prenatal diagnosis and characterization of an analphoid marker chromosome 16

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature

Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

SRY-negative XX fetus with complete male phenotype

Contribution of genetics

Duplication of the long arm of chromosome 13 secondary to a recombination in a maternal intrachromosomal insertion (shift)

Functional disomy of the Xq28 chromosome region

Apport de la génétique

Serum hCG assay: A method for detection of contamination of fetal blood samples

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter

Maternal serum screening in cases of mosaic and translocation Down syndrome

Reproductive genetic counselling in non‐mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

Anti-Müllerian hormone in early human development

Prenatal Diagnosis in France

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Deletion of band 13q21 is compatible with normal phenotype

Amniotic fluid digestive enzymes: Diagnostic value in fetal gastrointestinal obstructions

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