Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mayada, Helal"'
Autor:
Ingrid M. Wentzensen, Patrick Dunn, Caleb Heid, Esperanza Font-Montgomery, Anna Chassevent, Solveig Heide, Vinod K. Misra, Leandra Folk, Wendy K. Chung, Alexandra Afenjar, Sandra Whalen, Suzanne M. Leal, Thomas Smol, Erin Torti, Kathleen Brown, Isabelle Schrauwen, Anushree Acharya, Magali Barth, Mayada Helal, Mélanie Rama, Thomas Courtin, Irma Järvelä, Maura R.Z. Ruzhnikov, Farouq Thabet, Boris Keren, Haluk Kavus, Kara Withrow, J. Austin Hamm, Elizabeth A. Normand, Mitch Cunningham, Constance Smith-Hicks, Camille Fallot, Fanggeng Zou, Abdul Nasir, Donald R. Love, Alban Ziegler
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
BackgroundVariants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57ea74f5fb77388de1042d0f1a0159
https://hal.science/hal-03998194/document
https://hal.science/hal-03998194/document
Autor:
Anushree, Acharya, Haluk, Kavus, Patrick, Dunn, Abdul, Nasir, Leandra, Folk, Kara, Withrow, Ingrid M, Wentzensen, Maura R Z, Ruzhnikov, Camille, Fallot, Thomas, Smol, Mélanie, Rama, Kathleen, Brown, Sandra, Whalen, Alban, Ziegler, Magali, Barth, Anna, Chassevent, Constance, Smith-Hicks, Alexandra, Afenjar, Thomas, Courtin, Solveig, Heide, Esperanza, Font-Montgomery, Caleb, Heid, J Austin, Hamm, Donald R, Love, Farouq, Thabet, Vinod K, Misra, Mitch, Cunningham, Suzanne M, Leal, Irma, Jarvela, Elizabeth A, Normand, Fanggeng, Zou, Mayada, Helal, Boris, Keren, Erin, Torti, Wendy K, Chung, Isabelle, Schrauwen
Publikováno v:
Journal of medical genetics. 59(7)
Variants inMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with aWe identified 13 novel missense variants inWe provide a comprehensive review and expa
Autor:
Henry Houlden, Mary A. O’Connell, Tiong Yang Tan, Ingo Helbig, Jane Juusola, Mayada Helal, Jiří Sedmík, Lynn Pais, Lior Cohen, Lina Basel-Salmon, Katherine B. Howell, Mark Fitzgerald, Rivka Sukenik Halevy, Susan M. White, Rachel Straussberg, Simon Sadedin, Liam Keegan, Reza Maroofian, Wendy K. Chung, John Christodoulou
Publikováno v:
The American Journal of Human Genetics
Am J Hum Genet
Am J Hum Genet
The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in fou
Autor:
Lina Ramos, D James Stavropoulos, Lucie Dupuis, Pedro Louro, Sarah Abdullah, Roberto Mendoza-Londono, Mayada Helal
Publikováno v:
American Journal of Medical Genetics Part A.
The widespread availability of comparative genomic hybridization (CGH) array analysis has led to the discovery of several genomic microdeletion-associated syndromes and has identified possible genetic causes for patients with previously unexplained c
Autor:
Mayada Helal, Olaf Riess, Bita Shalbafan, Nafi Dilaver, Mohammad Yahya Vahidi Mehrjardi, Javad Mohammadi-Asl, Tobias B. Haack, Neda Golchin, Hamid Galehdari, Neda Mazaheri, Reza Azizi Malamiri, Rebecca Buchert, Gholamreza Shariati, Wendy K. Chung, Alireza Sedaghat, Reza Maroofian
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 39(11)
Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurodegenerative disorders including infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primar
Autor:
Nada Quercia, Roberto Mendoza-Londono, Sohnee Ahmed, Ryan K. C. Yuen, Michael J. Szego, Grace Yoon, Stacy Hewson, Giovanna Pellecchia, Michael Brudno, Richard A. Leach, Nasim Monfared, Babak Alipanahi, Ayeshah Chaudhry, Andreas Schulze, Robin Z. Hayeems, Pierre Sinajon, Melissa T. Carter, Mayada Helal, Peter N. Ray, Thomas Nalpathamkalam, Robert Klein, Cheryl Cytrynbaum, Bita Hashemi, Marta Girdea, Daniele Merico, Andrea Shugar, Julian Raiman, Nicole Parkinson, Christian R. Marshall, Randi Zlotnik Shaul, Michal Inbar-Feigenberg, Raymond H. Kim, Resham Ejaz, Soghra Jougheh Doust, Sarah Bowdin, Komudi Siriwardena, Eriskay Liston, Chris Carew, Maian Roifman, Dimitri J. Stavropoulos, Andrea Guerin, Leona Fishman, David Chitayat, M. Stephen Meyn, Peter Kannu, Heather MacDonald, Bhooma Thiruvahindrapuram, Graeme A. M. Nimmo, Stephen W. Scherer, Lucie Dupuis, Saadet Mercimek-Mahmutoglu, Ronald D. Cohn, Natalya Karp, Jonathan B. Kronick, Lauren Chad, Raith Erickson, Enas Nasr, Riyana Babul-Hirji, Ramses Badilla Porras, Brendan J. Frey, Rosanna Weksberg, Cheryl Shuman, Rebekah Jobling
Publikováno v:
NPJ Genomic Medicine
Paediatrics Publications
Paediatrics Publications
The standard of care for first-tier clinical investigation of the aetiology of congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy-number variations (CNVs), often followed by gene(s)-specific seq