Sophie Naudion

Sophie Naudion

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Sophie Naudion

Sophie Naudion

Publications by authors named "Sophie Naudion"

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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

J Med Genet 2017 02 31;54(2):100-103. Epub 2016 Aug 31.

Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103996DOI Listing
February 2017

Marfan Sartan: a randomized, double-blind, placebo-controlled trial.

Eur Heart J 2015 Aug 2;36(32):2160-6. Epub 2015 May 2.

Centre National de Référence pour le syndrome de Marfan et apparentés, Hôpital Bichat, 46 rue Henry Huchard, Paris 75018, France Service de Cardiologie, AP-HP, Hôpital Bichat, Paris, France INSERM LVTS U1148, Paris 75018, France

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http://dx.doi.org/10.1093/eurheartj/ehv151DOI Listing
August 2015

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Mol Genet Metab 2013 Sep-Oct;110(1-2):90-7. Epub 2013 Jul 20.

CHU Bordeaux, Service de Génétique Médicale, Place Amélie Raba Léon, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.013DOI Listing
March 2014

[Placental pathology of uteroplacental vascular deficiency].

Ann Pathol 2013 Aug 31;33(4):230-6. Epub 2013 Jul 31.

Université Bordeaux-Segalen, hôpital Pellegrin, Bordeaux cedex, France.

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http://dx.doi.org/10.1016/j.annpat.2013.04.018DOI Listing
August 2013

[Cardiac tamponade with anterior interventricular vein thrombosis complicating central venous catheter insertion in a neonate].

Ann Pathol 2012 Jun 30;32(3):217-9. Epub 2012 Apr 30.

Unité de pathologie fœtoplacentaire, université Bordeaux-Segalen, 146 rue Léo-Saignat, Bordeaux cedex, France.

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http://dx.doi.org/10.1016/j.annpat.2011.10.014DOI Listing
June 2012

[Maze-like vascular anomaly in partial mole. Interest for the pathological diagnosis of partial mole on chorionic villous sampling].

Ann Pathol 2009 Oct;29(5):424-7

Université Victor-Segalen Bordeaux-2, CHU de Bordeaux, Bordeaux cedex, France.

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http://dx.doi.org/10.1016/j.annpat.2009.10.005DOI Listing
October 2009

Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.

J Autism Dev Disord 2009 Sep 7;39(9):1252-60. Epub 2009 Apr 7.

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, University Victor Segalen, Bordeaux 2, France.

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http://dx.doi.org/10.1007/s10803-009-0733-4DOI Listing
September 2009