About: Gwenaëlle Collod

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An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....)
alternative label	Collod-Beroud, Gwenaëlle
Life Event	http://www.idref.fr/087552833/birth
preferred label	Collod, Gwenaëlle (1969-....)
name	Gwenaëlle Collod
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
Given name	Gwenaëlle
familyName	Collod
has biographical i...tion (Deprecated)	Directeur de thèse. A soutenu une thèse pour le diplôme de docteur en médecine à l'Université René Descartes Paris 5, Faculté de médecine Cochin Port-Royal, le 6 février 1996. Chargé de recherche, INSERM dans l'unité INSERM U827,Montpellier (en 2014)
gender	female
ORCID iD	0000-0003-4098-6161
is sameAs of	Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....) Collod, Gwenaëlle (1969-....)
is Thesis advisor of	http://www.sudoc.fr/202675483/id http://www.sudoc.fr/203769937/id Le syndrome de Marfan et pathologies associées, identification de nouveaux gènes impliqués dans la bicuspidie de la valve aortique http://www.sudoc.fr/127620435/id http://www.sudoc.fr/139035990/id http://www.sudoc.fr/203213483/id http://www.sudoc.fr/201793059/id Hétérogénéité génétique et allélique des dystonies, recherche de gènes candidats et validation fonctionnelle http://www.sudoc.fr/247056251/id Génétique des dystonies http://www.sudoc.fr/266359949/id
is Author of	http://www.sudoc.fr/041865529/id Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands Piezo1 is required for outflow tract and aortic valve development Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Chapter 8: The Marfan Mutation Database Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches Genetic mutation databases: Stakes and perspectives for orphan genetic diseases DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome] Human Splicing Finder: an online bioinformatics tool to predict splicing signals Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias Marfan and Related Fibrillinopathies Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1] Reply to “The question of heterogeneity in Marfan syndrome” [Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome] Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. http://www.sudoc.fr/245617434/id Piezo1 is required for outflow tract and aortic valve development. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Monogenetic dystonia: Revisiting the dopaminergic hypothesis Hétérogénéité du syndrome de Marfan The p.Asp216His TOR1A allele effect is not found in the French population. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene. Fibrillines et fibrillinopathies Software and database for the analysis of mutations in the human FBN1 gene. Primary dystonia: In search of new genes... Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease Cardiovascular manifestations in men and women carrying a FBN1 mutation Singular DYT6 phenotypes in association with new THAP1 frameshift mutations Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. UMD (Universal Mutation Database): 2005 update Molecular Genetics of the Fibrillinopathies Cardiovascular manifestations in men and women carrying a FBN1 mutation Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution Bioinformatics identification of splice site signals and prediction of mutation effects Marfan syndrome in the third Millennium Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability Writing tremor: Should we look for a TOR1A mutation Identification of a peripheral blood gene signature predicting aortic valve calcification Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Heterozygous TGFBR2 mutations in Marfan syndrome. The revised ghent nosology; reclassifying isolated ectopia lentis Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion The molecular genetics of Marfan syndrome and related disorders. Actionable Genes, Core Databases, and Locus-Specific Databases Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia. Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year New Topoisomerase I mutations are associated with resistance to camptothecin. BRCA Share: A Collection of Clinical BRCA Gene Variants In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases The new Ghent criteria for Marfan syndrome: what do they change? A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

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