Patrick Collignon

Centre Hospitalier Intercommunal Toulon-La Seyne-sur-Mer — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index2.1kcitations71works0.02yr avg
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Research Topics

Connective tissue disorders research(17), Metal and Thin Film Mechanics(8), Diamond and Carbon-based Materials Research(7), Genomics and Rare Diseases(7), Genomic variations and chromosomal abnormalities(5)

Publications69 total

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations
Journal of Medical Genetics·2025Open Access
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
Orphanet Journal of Rare Diseases·2021· 12 citedOpen Access
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Journal of Medical Genetics·2020· 14 cited
Why Do So Many Good Assembly Plants Close? Toward a New Plant Stakeholder and Total Lifecycle Management Strategy
2020· 1 cited
IGSF1 Mutation: Treatment in the Absence of Symptoms?
58th Annual ESPE Meeting (ESPE 2019)·2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Genetics in Medicine·2019· 57 citedOpen Access
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Journal of Medical Genetics·2019· 79 citedOpen Access
Présentation néonatale du syndrome de Prader-Willi : à propos de 5 cas
Archives de Pédiatrie·2017· 1 cited
The genetic contribution in the evaluation of cardiac patients in a non-university hospital
Archives of Cardiovascular Diseases Supplements·2017
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
Human Mutation·2016· 39 cited
Enfin libre d'être moi : besoin de reconnaissance et peur du regard de l'autre, j'ai passé le cap ! / Patrick Collignon
2016
Marfan Sartan: a randomized, double-blind, placebo-controlled trial
European Heart Journal·2015· 209 citedOpen Access
La puissance du mental : Hyperinvestissement, stress, épuisement... - Comment se remotiver ? Ed. 1
Eyrolles eBooks·2014
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
Clinical Genetics·2013· 25 citedOpen Access
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Journal of Medical Genetics·2013· 30 cited
Le management toxique : Harcèlement, intolérances, missions impossibles... Comment s'en sortir ?
Eyrolles eBooks·2013
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Prenatal Diagnosis·2012· 15 cited
Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers–Danlos syndrome
Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin·2012· 10 cited
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Orphanet Journal of Rare Diseases·2011· 111 citedOpen Access
Novel <i>FH</i> mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma
Journal of Medical Genetics·2011· 140 citedOpen Access
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Frequent Co-authors

Laurence Faivre(8), Sylvie Odent(7), Didier Lacombe(7), Bruno Leheup(7), Guillaume Jondeau(6), Philippe Khau Van Kien(6), Yves Dulac(5), Cathérine Boileau(5), Jeanne Amiel(5), Annick Toutain(5), H. Michel(5), Dominique P. Germain(4), Yline Capri(4), Christine Coubes(4), Florence Démurger(4), Bertrand Isidor(4), Laurent Pasquier(4), Nicole Philip(4), Sandra Whalen(4), Nathalie Renevier(4)