Publications by authors named "Lucile Boutaud"

18Publications

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Clin Genet 2020 Sep 14. Epub 2020 Sep 14.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1111/cge.13840DOI Listing
September 2020

Cilia in hereditary cerebral anomalies.

Biol Cell 2019 Sep 17;111(9):217-231. Epub 2019 Jun 17.

Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France.

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http://dx.doi.org/10.1111/boc.201900012DOI Listing
September 2019

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Am J Med Genet A 2018 07 27;176(7):1610-1613. Epub 2018 Apr 27.

Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38685DOI Listing
July 2018

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Birth Defects Res 2018 04 8;110(6):538-542. Epub 2018 Jan 8.

Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.

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http://doi.wiley.com/10.1002/bdr2.1191
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http://dx.doi.org/10.1002/bdr2.1191DOI Listing
April 2018

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Birth Defects Res 2017 Nov 31;109(19):1586-1595. Epub 2017 Jul 31.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

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http://dx.doi.org/10.1002/bdr2.1093DOI Listing
November 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2663-5. Epub 2013 Aug 5.

AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36081DOI Listing
October 2013

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

J Am Soc Nephrol 2010 Apr 11;21(4):679-88. Epub 2010 Feb 11.

Department of Nephrology, Centre de Référence des Maladies Rénales Héréditaires, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1681/ASN.2009080808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844298PMC
April 2010