Publications by authors named "Patrick Collignon"

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Patrick Collignon

J Med Genet· March 2025

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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, Sébastien Moutton, François Lecoquierre, Patrick Collignon

J Med Genet· July 2020

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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Henri Margot, Guilaine Boursier, Claire Duflos, Elodie Sanchez, Jeanne Amiel, Patrick Collignon

Genet Med· January 2020

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Patrick Collignon

J Med Genet· August 2019

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Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Cecilia Marelli, Claire Guissart, Cecile Hubsch, Mathilde Renaud, Jean-Philippe Villemin, Patrick Collignon

Hum Mutat· December 2016

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Marfan Sartan: a randomized, double-blind, placebo-controlled trial.
Olivier Milleron, Florence Arnoult, Jacques Ropers, Philippe Aegerter, Delphine Detaint, Patrick Collignon

Eur Heart J· August 2015

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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, Alix de Becdelièvre, Clément Jimenez, Patrick Collignon

J Med Genet· April 2013

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Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.
Kim-Thanh Ong, Henri Plauchu, Simone Peyrol, Elisabeth Roux, Elisabeth Errazuriz, Patrick Collignon

Virchows Arch· June 2012

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Patrick Collignon

Orphanet J Rare Dis· May 2011

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Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Johny Bombled, Sandrine Lefèvre, Patrick Collignon

J Med Genet· April 2011

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Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.
Kim-Thanh Ong, Jérôme Perdu, Julie De Backer, Erwan Bozec, Patrick Collignon

Lancet· October 2010

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Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome.
Delphine Detaint, Philippe Aegerter, Florence Tubach, Isabelle Hoffman, Henri Plauchu, Patrick Collignon

Arch Cardiovasc Dis· May 2010

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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Philippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, Corinne Baudoin, Aurélie Plancke, Patrick Collignon

Hum Mutat· January 2010

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Three-dimensional analysis of the vertebral rotation associated with the lateral deviation in Marfan syndrome spinal deformity.
Yann Glard, Vincent Pomero, Patrick Collignon, Wafa Skalli, Jean-Luc Jouve

J Pediatr Orthop B· January 2009

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Scoliotic curve patterns in patients with Marfan syndrome.
Yann Glard, Franck Launay, Grégory Edgard-Rosa, Patrick Collignon, Jean-Luc Jouve

J Child Orthop· June 2008

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Sagittal balance in scoliosis associated with Marfan syndrome: a stereoradiographic three-dimensional analysis.
Yann Glard, Vincent Pomero, Patrick Collignon, Wafa Skalli, Jean-Luc Jouve

J Child Orthop· March 2008

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Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
Cécile Mignon-Ravix, Danielle Depetris, Judith J Luciani, Cristina Cuoco, Malgorzata Krajewska-Walasek, Patrick Collignon

Eur J Hum Genet· April 2007

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[Recommendations for the medical management of aortic complications of Marfan's syndrome].
Guillaume Jondeau, Martine Barthelet, Clarisse Baumann, Damien Bonnet, Bertrand Chevallier, Patrick Collignon

Arch Mal Coeur Vaiss· May 2006

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A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.
Fabienne Giuliano, Patrick Collignon, Véronique Paquis-Flucklinger, Jacques Bardot, Nicole Philip

Am J Med Genet A· January 2005

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