Publications by authors named "Isabelle Marey"

18Publications

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037130PMC
July 2018

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

Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.

Horm Res Paediatr 2016 3;86(3):206-211. Epub 2016 Jun 3.

UPMC Univ Paris 06, Sorbonne Universités, Paris, France.

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http://dx.doi.org/10.1159/000446435DOI Listing
April 2017

Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome.

J Child Adolesc Psychopharmacol 2016 10 5;26(8):750-755. Epub 2016 Apr 5.

1 Department of Child and Adolescent Psychiatry, Université Pierre et Marie Curie , Assistance Publique-Hôpitaux de Paris, GH Pitié-Salpêtrière, Paris, France .

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http://dx.doi.org/10.1089/cap.2015.0241DOI Listing
October 2016

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

Am J Med Genet A 2012 Sep 20;158A(9):2277-82. Epub 2012 Jul 20.

Department of Genetics, APHP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35494DOI Listing
September 2012

Craniosynostosis: A rare complication of pycnodysostosis.

Eur J Med Genet 2010 Mar-Apr;53(2):89-92. Epub 2010 Jan 5.

Department of Genetics, AP-HP Robert DEBRE University Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2009.12.001DOI Listing
July 2010