C
Claudine Junien
Researcher at Paris Descartes University
Publications - 15
Citations - 727
Claudine Junien is an academic researcher from Paris Descartes University. The author has contributed to research in topics: Gene & Mutation. The author has an hindex of 13, co-authored 15 publications receiving 714 citations. Previous affiliations of Claudine Junien include CHU Ambroise Paré & University of Paris.
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Software and database for the analysis of mutations in the VHL gene
Christophe Béroud,Dominique Joly,Catherine Gallou,Frédéric Staroz,Marie Thérèse Orfanelli,Claudine Junien +5 more
TL;DR: To standardize the collection of informations, facilitate the mutational analysis of the VHL gene and promote the genotype-phenotype analysis, a software package along with a computerized database have been created.
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Marfan Database (third edition): New mutations and new routines for the software
Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Christophe Béroud,Lesley C. Adès,Cheryl Black,Maureen Boxer,David J. H. Brock,Katherine Holman,Anne De Paepe,Uta Francke,Ulrich Grau,Caroline Hayward,H. G. Klein,Wanguo Liu,Lieve Nuytinck,Leena Peltonen,Ana Beatriz Alvarez Perez,Terhi Rantamäki,Claudine Junien,Catherine Boileau +19 more
TL;DR: The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1, associated not only with Marfan syndrome but also with a spectrum of overlapping disorders.
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LDLR Database (second edition): New additions to the database and the software, and results of the first molecular analysis
Mathilde Varret,Jean-Pierre Rabès,Rochelle Thiart,Maritha J. Kotze,Heike Baron,Ana Cenarro,Olivier S. Descamps,M. Ebhardt,Jean-Claude Hondelijn,Gert M. Kostner,Yasuko Miyake,Miguel Pocovi,Hartmut H.-J. Schmidt,Helena Schmidt,Herbert Schuster,Manfred Stuhrmann,Taku Yamamura,Claudine Junien,Christophe Béroud,Catherine Boileau +19 more
TL;DR: The second version of the LDLR database contains 140 new entries and the software has been modified to accommodate four new routines, and the analysis of the updated data gives the following informations.
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Software and Database for the Analysis of Mutations in the Human FBN1 Gene
TL;DR: To facilitate the genotype-phenotype correlation analyses, a software package along with a computerized database of germline and somatic mutations reported in the literature are created.
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Software and database for the analysis of mutations in the human LDL receptor gene
Mathilde Varret,Jean-Pierre Rabès,Gwenaëlle Collod-Béroud,Claudine Junien,Catherine Boileau,Christophe Béroud +5 more
TL;DR: To facilitate the mutationalAnalysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database have been created.