Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Virginie Poisson"'
Autor:
Cody Henderson, Virginie Poisson, Anna Gambin, Elizabeth Roeder, Kathleen Gibbs, Jacques L. Michaud, Matthew T. Harting, Sandhya Parkash, Jennifer A. Wambach, Lauren Currie, Nina Tatevian, Kris De Coen, Qian Liu, Matthew D. Weaver, Ewelina Kośmider, Pawel Stankiewicz, Edwina J. Popek, Luc L. Oligny, Justyna A. Karolak, Jo Van Dorpe, Stephen G. Kahler, Denis Bérubé, Annelies Dheedene, Amir M. Khan, Rebecca O. Littlejohn, F. Shardonofsky, Sandra Janssens, George C. Powers, Thomas S. DeNapoli, Przemyslaw Szafranski
Publikováno v:
Human Mutation. 39:1916-1925
Transposable elements modify human genome by inserting into new loci or by mediating homology-, microhomology-, or homeology-driven DNA recombination or repair, resulting in genomic structural variation. Alveolar capillary dysplasia with misalignment
Autor:
Xiaofei Song, Romana Gerychová, Jacques L. Michaud, Justyna A. Karolak, Qian Liu, Denis Bérubé, Brigitte H. W. Faas, Przemyslaw Szafranski, Nicole de Leeuw, Kathleen Gibbs, Petr Janku, Marta Jezova, Edwina J. Popek, Luc L. Oligny, Lea F. Surrey, Iveta Valášková, Virginie Poisson, Pawel Stankiewicz
Publikováno v:
Human Genetics, 138, 1301-1311
Hum Genet
Human Genetics, 138, 11-12, pp. 1301-1311
Hum Genet
Human Genetics, 138, 11-12, pp. 1301-1311
Item does not contain fulltext Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe two similar heterozygous CNV deletions involving
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fe0cd7c149f1d488140223005a07bb
http://hdl.handle.net/2066/215578
http://hdl.handle.net/2066/215578
Autor:
Sylvie Provost, Philippe Chetaille, Ana Siles, Maryse Thibeault, Nathalie Bureau, Kathleen Riopel, Jocelyne Mercier, Virginie Poisson, Séverine Leclerc, Michelle Jaeggi, Christine Houde, Joaquim Miro, Jean-Luc Bigras, Marie-Pierre Dubé, Andrea Richter, Gregor Andelfinger
Publikováno v:
Circulation. 116
BACKGROUND: Statistical genetic analysis of cohorts with left ventricular outflow tract obstruction (LVOTO) shows high heritability of such lesions. We have identified three X-linked French-Canadian pedigrees with a total of 54 family members with mu