Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Sanaa Choufani"'
Autor:
Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Recurrent miscarriage (RM) affects 1% to 5% of couples trying to conceive. Despite extensive clinical and laboratory testing, half of the RM cases remain unexplained. We report the genetic analysis of a couple with eight miscarria
Externí odkaz:
https://doaj.org/article/5643f311622043daa83507010d712958
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101263- (2024)
Externí odkaz:
https://doaj.org/article/d39f73cb10f74ede958d23e49197aa5f
Autor:
Zain Awamleh, Sanaa Choufani, Dmitrijs Rots, Alexander Dingemans, Juan Dario Ortigoza Escobar, David Koolen, Bert de Vries, Rosanna Weksberg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101543- (2024)
Externí odkaz:
https://doaj.org/article/3bc851880b414d4c8ea1fd8bd3963197
Autor:
Sanaa Choufani, Rosanna Weksberg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101748- (2024)
Externí odkaz:
https://doaj.org/article/09436d735cb8467893e8eee12fffd2e6
Autor:
Martin Sidler, K. J. Aitken, Jia-Xin Jiang, Priyank Yadav, Erin Lloyd, Malak Ibrahim, Sanaa Choufani, Rosanna Weksberg, Darius Bägli
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Partial bladder outlet obstruction due to prostate hyperplasia or posterior urethral valves, is a widespread cause of urinary dysfunction, patient discomfort and also responsible for immense health care costs. Even after removal or relief of
Externí odkaz:
https://doaj.org/article/25830de41c7c47d8b372bcc8260a58c8
Autor:
Giulia F. Del Gobbo, Yue Yin, Sanaa Choufani, Emma A. Butcher, John Wei, Evica Rajcan-Separovic, Hayley Bos, Peter von Dadelszen, Rosanna Weksberg, Wendy P. Robinson, Ryan K. C. Yuen
Publikováno v:
Molecular Medicine, Vol 27, Iss 1, Pp 1-12 (2021)
Abstract Background Fetal growth restriction (FGR) is associated with increased risks for complications before, during, and after birth, in addition to risk of disease through to adulthood. Although placental insufficiency, failure to supply the fetu
Externí odkaz:
https://doaj.org/article/88b82984e8b44269838acbf69c082f6d
Autor:
Daniel E. Martin-Herranz, Erfan Aref-Eshghi, Marc Jan Bonder, Thomas M. Stubbs, Sanaa Choufani, Rosanna Weksberg, Oliver Stegle, Bekim Sadikovic, Wolf Reik, Janet M. Thornton
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-19 (2019)
Abstract Background Epigenetic clocks are mathematical models that predict the biological age of an individual using DNA methylation data and have emerged in the last few years as the most accurate biomarkers of the aging process. However, little is
Externí odkaz:
https://doaj.org/article/cd20924a14ee4e9ab07216a2bfff971e
Autor:
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)
Abstract Background Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes t
Externí odkaz:
https://doaj.org/article/1e206ed1cc744139884353eb7cb8a537
Autor:
Kit San Yeung, Tsz Leung Lee, Mo Yin Mok, Christopher Chun Yu Mak, Wanling Yang, Patrick Chun Yin Chong, Pamela Pui Wah Lee, Marco Hok Kung Ho, Sanaa Choufani, Chak Sing Lau, Yu Lung Lau, Rosanna Weksberg, Brian Hon Yin Chung
Publikováno v:
Epigenetics, Vol 14, Iss 4, Pp 341-351 (2019)
Patients with paediatric-onset systemic lupus erythematosus (SLE) often present with more severe clinical courses than adult-onset patients. Although genome-wide DNA methylation (DNAm) profiling has been performed in adult-onset SLE patients, paralle
Externí odkaz:
https://doaj.org/article/89d8edee4cdc49f6be155e835dbf1cfd
Publikováno v:
Epigenetics, Vol 14, Iss 2, Pp 109-117 (2019)
Buccal epithelial cells are among the most clinically accessible tissues and are increasingly being used to identify epigenetic disease patterns. However, substantial variation in buccal DNA methylation patterns indicates heterogeneity of cell types
Externí odkaz:
https://doaj.org/article/c3501797846f4fa3bada00c67709a901