Isabelle Marey

Isabelle Marey

UNVERIFIED PROFILE

Are you Isabelle Marey?   Register this Author

Register author
Isabelle Marey

Isabelle Marey

Publications by authors named "Isabelle Marey"

Are you Isabelle Marey?   Register this Author

16Publications

592Reads

29Profile Views

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

Genet Med 2019 Oct 3. 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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 .

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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