Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Zain, Awamleh"'
Autor:
Bianca Russell, Julia Sloan, Hiroki Nariai, Natasha Ludwig, Abigail Dickinson, Zain Awamleh, Rosanna Weksberg, Isabella Lin, Valerie Arboleda, Wen-Hann Tan
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101089- (2024)
Externí odkaz:
https://doaj.org/article/1da6445c0a7b409ab2ee5628e18d2984
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:
Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, REACH Biobank and Registry, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda
Publikováno v:
JCI Insight, Vol 8, Iss 10 (2023)
ASXL1 (additional sex combs–like 1) plays key roles in epigenetic regulation of early developmental gene expression. De novo protein-truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS; OMIM #605039), a rare neurodevelopmental condition
Externí odkaz:
https://doaj.org/article/42603961402a403db60591e2ecc78c13
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-10 (2019)
Abstract Background A normally developed placenta is integral to a successful pregnancy. Preeclampsia (PE) and intrauterine growth restriction (IUGR) are two common pregnancy related complications that maybe a result of abnormal placental development
Externí odkaz:
https://doaj.org/article/ad41a5889a144e44ad84f364be017260
Publikováno v:
Human Genetics.
Pathogenic variants in genes that encode epigenetic regulators are the cause for more than 100 rare neurodevelopmental syndromes also termed “chromatinopathies”. DNA methylation signatures, syndrome-specific patterns of DNA methylation alteration
Autor:
Isabella Lin, Zain Awamleh, Angela Wei, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda
De novo, truncating variants ofASXL1cause two distinct disorders: Bohring-Opitz Syndrome (BOS, OMIM #605039) a rare pediatric disorder characterized by multiorgan anomalies that disrupt normal brain, heart, and bone development causing severe intelle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a87483c40d42d72696873c9ce95b7a45
https://doi.org/10.1101/2022.12.15.519823
https://doi.org/10.1101/2022.12.15.519823
Autor:
Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda
ASXL1(Additional sex combs-like 1) plays key roles in epigenetic regulation of early developmental gene expression.De novotruncating mutations inASXL1cause Bohring-Opitz syndrome (BOS, OMIM #605039), a rare neurodevelopmental condition characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e458c6bf9a9708a43454c9984c2c0778
https://doi.org/10.1101/2022.12.15.520167
https://doi.org/10.1101/2022.12.15.520167
Autor:
Zain, Awamleh, Sarah, Goodman, Prajkta, Kallurkar, Wendy, Wu, Kevin, Lu, Sanaa, Choufani, Andrei L, Turinsky, Rosanna, Weksberg
Publikováno v:
Current Protocols. 2
There are more than 700 genes that encode proteins that function in epigenetic regulation and chromatin modification. Germline variants in these genes (typically heterozygous) are associated with rare neurodevelopmental disorders (NDDs) characterized
Autor:
Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S Alkuraya, Stephen Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Tomásio Neves, Sérgio B Sousa, Rosanna Weksberg
Publikováno v:
Human molecular genetics.
Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encod
Autor:
Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Robert Kopajtich, Thomas Meitinger, Jehan Suleiman, Ayman W El-Hattab
Publikováno v:
Hum Mol Genet
Hum. Mol. Genet. 31, 3083-3094 (2022)
Hum. Mol. Genet. 31, 3083-3094 (2022)
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman