Publications by authors named "Sophie Blesson"

19Publications

De novo mutations of are responsible for arthrogryposis broadening the -related phenotypes.

J Med Genet 2020 Sep 14. Epub 2020 Sep 14.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2020-107166DOI Listing
September 2020

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

J Matern Fetal Neonatal Med 2019 Sep 12:1-4. Epub 2019 Sep 12.

Department of Biochemistry and Genetics, Angers University Hospital , Angers , France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14767058.2019.1657084DOI Listing
September 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Generalized lymphedema associated with neurologic signs (GLANS) syndrome: a new entity?

J Am Acad Dermatol 2015 Feb 4;72(2):333-9. Epub 2014 Dec 4.

University François Rabelais, Tours, France; Department of Dermatology, Centre Hospitalier Régional Universitaire, Tours, France; Inserm U930, Tours, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2014.10.033DOI Listing
February 2015