Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mariam Dessay"'
Autor:
Mariam Dessay, Emile Couture, Halim Maaroufi, Frédéric Fournier, Edith Gagnon, Arnaud Droit, Jacques P. Brown, Laëtitia Michou
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-15 (2022)
Abstract Background We identified two families with Paget's disease of bone (PDB) linked to the p.Pro392Leu mutation within the SQSTM1 gene displaying a possible digenism. This study aimed at identifying this second genetic variant cosegregating with
Externí odkaz:
https://doaj.org/article/82c8632d6f7e4e90ad791039a552c8f0
Autor:
Mariam Dessay, François Jobin Gervais, David Simonyan, Andréanne Samson, Guylaine Gleeton, Edith Gagnon, Caroline Albert, Jacques P. Brown, Laëtitia Michou
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100717- (2020)
Paget's disease of bone (PDB) is a common chronic bone disorder. In the French-Canadian population, the p.Pro392Leu mutation within the SQSTM1 gene is involved in 46% of familial forms. In New Zealand, the emergence of PDB in offspring inheriting SQS
Externí odkaz:
https://doaj.org/article/f06731988c714c85ae1b6d4d027b1df4
Autor:
Mariam Dessay, Emile Couture, Halim Maaroufi, Frédéric Fournier, Edith Gagnon, Arnaud Droit, Jacques P. Brown, Laëtitia Michou
Publikováno v:
BMC medical genomics. 15(1)
Background We identified two families with Paget's disease of bone (PDB) linked to the p.Pro392Leu mutation within the SQSTM1 gene displaying a possible digenism. This study aimed at identifying this second genetic variant cosegregating with the p.Pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5b94a28955a0ac06330779af4532b1
https://pubmed.ncbi.nlm.nih.gov/35241069
https://pubmed.ncbi.nlm.nih.gov/35241069
Autor:
Caroline Albert, Andréanne Samson, Mariam Dessay, David Simonyan, Guylaine Gleeton, Edith Gagnon, François Jobin Gervais, Jacques P. Brown, Laëtitia Michou
Publikováno v:
Bone Reports, Vol 13, Iss, Pp 100717-(2020)
Paget's disease of bone (PDB) is a common chronic bone disorder. In the French-Canadian population, the p.Pro392Leu mutation within the SQSTM1 gene is involved in 46% of familial forms. In New Zealand, the emergence of PDB in offspring inheriting SQS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fde1c2ca188a8aa4103e65b8b9c1ccc
http://www.sciencedirect.com/science/article/pii/S2352187220304770
http://www.sciencedirect.com/science/article/pii/S2352187220304770
Autor:
Nathalie Amiable, Mohamed S Numan, Edith Gagnon, Jacques P. Brown, Mariam Dessay, Laëtitia Michou, Sonia Jean
Publikováno v:
Joint bone spine. 86(3)
Objectives This study explored the role of outdoor and indoor air pollutants in Paget's disease of bone (PDB). Methods We performed a survey in 140 French-Canadian patients with PDB, including 39 carriers of p.Pro392Leu mutation (SQSTM1 gene) and 113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6596d022eb4f1c76739c88da7b1a5a7f
https://pubmed.ncbi.nlm.nih.gov/30594595
https://pubmed.ncbi.nlm.nih.gov/30594595