Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Steffany Grondin"'
Autor:
Steffany Grondin, Brianna Davies, Julia Cadrin-Tourigny, Christian Steinberg, Christopher C Cheung, Paloma Jorda, Jeffrey S Healey, Martin S Green, Shubhayan Sanatani, Wael Alqarawi, Paul Angaran, Laura Arbour, Pavel Antiperovitch, Habib Khan, Richard Leather, Peter G Guerra, Lena Rivard, Christopher S Simpson, Martin Gardner, Ciorsti MacIntyre, Colette Seifer, Anne Fournier, Jacqueline Joza, Michael H Gollob, Guillaume Lettre, Mario Talajic, Zachary W Laksman, Jason D Roberts, Andrew D Krahn, Rafik Tadros
Publikováno v:
European heart journal. 43(32)
Aims Genetic testing is recommended in specific inherited heart diseases but its role remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA). We sought to assess the yield and clinical utility of genetic testing in UC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33d92686284b107eec4568f543feb7d
https://pubmed.ncbi.nlm.nih.gov/35380654
https://pubmed.ncbi.nlm.nih.gov/35380654
Autor:
Ken Kelu Bisabu, Evelyne Naas, Alla-Eddine Mokrane, Steffany Grondin, Rafik Tadros, Martin Aguilar, Mireille Marsolais, Julia Cadrin-Tourigny, Juan Zhao, Lucie Parent, Mario Talajic, Johannie Gagnon, Emilie Segura, François-Pierre Mongeon
Publikováno v:
Circulation: Genomic and Precision Medicine. 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71cd3355fa756a681cd75f72921d88cd
https://doi.org/10.1161/circgen.120.003123
https://doi.org/10.1161/circgen.120.003123
Autor:
Julie Amyot, Laura Robb, Johannie Gagnon, Julia Cadrin-Tourigny, Donato Gerardo Terrone, Lena Rivard, Sylvain Pagé, Mario Talajic, Steffany Grondin, Rafik Tadros, Paloma Jordà, Avedis-Christ Wazirian
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(10)
Rare loss of function variants in DSP, which codes for the desmosomal protein desmoplakin, have been implicated in dilated and arrhythmogenic right ventricular cardiomyopathies. We present a family with arrhythmogenic cardiomyopathy associated with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cca59ca1bae6756514b1e20eafd8fe1
https://pubmed.ncbi.nlm.nih.gov/32808748
https://pubmed.ncbi.nlm.nih.gov/32808748
Autor:
Anne-Marie Laberge, Dominique Cousineau, Annie Janvier, Anita Rowan, Steffany Grondin, Isabelle Tremblay, Lionel Carmant
Publikováno v:
Journal of Autism and Developmental Disorders. 49:363-375
Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3233dac826dfc55f778a9a3b987adc3
https://doi.org/10.1007/s10803-018-3768-6
https://doi.org/10.1007/s10803-018-3768-6