Publications by authors named "Patrick Collignon"

18Publications

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

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

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

View Article

Download full-text PDF

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

Sagittal balance in scoliosis associated with Marfan syndrome: a stereoradiographic three-dimensional analysis.

J Child Orthop 2008 Mar 23;2(2):113-8. Epub 2008 Feb 23.

Service de Chirurgie Orthopédique Infantile, Hôpital d'Enfants de la Timone, 245 Rue St Pierre, 13385, Marseille Cedex 5, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11832-008-0083-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656796PMC
March 2008

Scoliotic curve patterns in patients with Marfan syndrome.

J Child Orthop 2008 Jun 15;2(3):211-6. Epub 2008 Mar 15.

Service de Chirurgie Orthopédique Infantile, Hôpital d'Enfants de la Timone, 245 Rue St Pierre, 13385, Marseille Cedex 5, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11832-008-0095-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656803PMC
June 2008