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Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

Clinical genetics, 2016-06, Vol.89 (6), p.659-668

2016

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Fetal phenotypes in otopalatodigital spectrum disorders

Clinical genetics, 2016-03, Vol.89 (3), p.371-377

2016

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Answer to the article by F. Vialrd et al.: Does the prevalence of recurrent pathogenic microdeletions and microdoublements in prenatal diagnosis lead to a reassessment of the evolution of non-invasive screening techniques? The example of region 22q11.2

Gynécologie, obstétrique, fertilité & sénologie, 2017-01, Vol.45 (1), p.50-53

2017

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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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Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3180-3186

2014

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Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

British journal of dermatology (1951), 2010-05, Vol.162 (5), p.1044-1048

2010

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First‐trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness

Ultrasound in obstetrics & gynecology, 2007-08, Vol.30 (2), p.221-226

2007

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Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

American journal of medical genetics. Part A, 2004-08, Vol.129A (1), p.64-68

2004

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Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia

Molecular human reproduction, 2016-01, Vol.22 (1), p.35-45

2016

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Prenatal diagnosis of a cleft of the tongue, lower lip and mandible

Ultrasound in obstetrics & gynecology, 2012-01, Vol.39 (1), p.110-112

2012

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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Human mutation, 2009-04, Vol.30 (4), p.669-676

2009

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Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

European journal of pediatrics, 1998-11, Vol.157 (11), p.881-884

1998

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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

Human mutation, 2001-07, Vol.18 (1), p.83-84

2001

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Late onset microcephaly: failure of prenatal diagnosis

Ultrasound in obstetrics & gynecology, 2004-09, Vol.24 (4), p.481-483

2004

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Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma

Prenatal diagnosis, 2003-01, Vol.23 (1), p.25-30

2003

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The noninvasive prenatal testing for Down's Syndrome. Retrospective study of 8821 patients

Journal de gynecologie, obstetrique et biologie de la reproduction, 2016-11, Vol.45 (9), p.1127

2016

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Prenatal diagnosis of fetal tail and postabortum anatomical description

Ultrasound in obstetrics & gynecology, 2001-11, Vol.18 (5), p.531-533

2001

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Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

Journal of medical genetics, 2002-10, Vol.39 (10), p.714-717

2002

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Antenatal manifestations of mitochondrial respiratory chain deficiency

The Journal of pediatrics, 2003-08, Vol.143 (2), p.208-212

2003

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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Nature genetics, 1998-05, Vol.19 (1), p.67-69

1998

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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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Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report

Prenatal diagnosis, 2002-11, Vol.22 (11), p.973-975

2002

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Results of assisted reproductive technique in men with cystic fibrosis

Human reproduction (Oxford), 2006-05, Vol.21 (5), p.1232-1236

2006

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SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

Acta Paediatrica, 1999-12, Vol.88 (s433), p.55-59

1999

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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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Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

Fetal phenotypes in otopalatodigital spectrum disorders

Answer to the article by F. Vialrd et al.: Does the prevalence of recurrent pathogenic microdeletions and microdoublements in prenatal diagnosis lead to a reassessment of the evolution of non-invasive screening techniques? The example of region 22q11.2

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

Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

First‐trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia

Prenatal diagnosis of a cleft of the tongue, lower lip and mandible

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

Late onset microcephaly: failure of prenatal diagnosis

Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma

The noninvasive prenatal testing for Down's Syndrome. Retrospective study of 8821 patients

Prenatal diagnosis of fetal tail and postabortum anatomical description

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

Antenatal manifestations of mitochondrial respiratory chain deficiency

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

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

Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report

Results of assisted reproductive technique in men with cystic fibrosis

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

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

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