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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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FMR1 gene alleles in infertile women with primary ovarian insufficiency, diminished ovarian reserve and poor response to ovarian stimulation

Fertility and sterility, 2012-09, Vol.98 (3), p.S131-S132

2012

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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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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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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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Decreasing birth defect in children by using high magnification selected spermatozoon injection

Fertility and sterility, 2011-09, Vol.96 (3), p.S85-S85

2011

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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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Perinatal outcome of 2140 singletons born from transfer of frozen-thawed embryos (FET) conceived by assisted reproductive technology (ART): a French control study 1998-2008

Fertility and sterility, 2010, Vol.94 (4), p.S241-S241

2010

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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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Réponse à l’article de F. Vialard et al. : la prévalence des microdélétions et microduplications pathogènes récurrentes en diagnostic prénatal doit-elle amener à revoir l’évolution des techniques de dépistage non invasif ? L’exemple de la région 22q11.2

Gynécologie Obstétrique Fertilité & Sénologie, 2017-01, Vol.45 (1), p.50-53

2017

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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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Approche moléculaire de la prise en charge des immobilismes fœtaux et hypotonie néonatale

Journal de pédiatrie et de puériculture, 2003-06, Vol.16 (3), p.179-181

Viot, G.

2003

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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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cardiopathies congénitales : quel risque pour la fratrie ?

Journal de pédiatrie et de puériculture, 2002, Vol.15 (5), p.259-264

Viot, G.

2002

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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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Risques de morbidité maternelle et périnatale en fécondation in vitro : une étude nationale de cohorte française

Gynécologie Obstétrique Fertilité & Sénologie, 2020-04, Vol.48 (4), p.351-358

2020

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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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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

FMR1 gene alleles in infertile women with primary ovarian insufficiency, diminished ovarian reserve and poor response to ovarian stimulation

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

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

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

Decreasing birth defect in children by using high magnification selected spermatozoon injection

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

Perinatal outcome of 2140 singletons born from transfer of frozen-thawed embryos (FET) conceived by assisted reproductive technology (ART): a French control study 1998-2008

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

Réponse à l’article de F. Vialard et al. : la prévalence des microdélétions et microduplications pathogènes récurrentes en diagnostic prénatal doit-elle amener à revoir l’évolution des techniques de dépistage non invasif ? L’exemple de la région 22q11.2

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

Approche moléculaire de la prise en charge des immobilismes fœtaux et hypotonie néonatale

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

cardiopathies congénitales : quel risque pour la fratrie ?

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

Risques de morbidité maternelle et périnatale en fécondation in vitro : une étude nationale de cohorte française

Antenatal manifestations of mitochondrial respiratory chain deficiency

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