Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Christina Hung"'
Autor:
Matheus Wilke, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William Craigen, Filippo Pinto e Vairo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101148- (2024)
Externí odkaz:
https://doaj.org/article/1cd58182024b48cfacc41ea8e4d2a0cd
Autor:
Leen Khalife, Rachel Gottlieb, Tara Daly, Xiaoting Ma, Asma Rashid, Bridget Funk, Emanuela Gussoni, Christina Hung, Olaf Bodamer
Publikováno v:
Rare, Vol 1, Iss , Pp 100008- (2023)
Rare diseases are a group of complex conditions with challenging diagnosis and management. One example is Kabuki Syndrome (KS), a rare and complex genetic condition necessitating multidisciplinary specialized care. The wealth of data supporting a mul
Externí odkaz:
https://doaj.org/article/d71d122788c04edc80b261558863cb41
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100267- (2023)
Externí odkaz:
https://doaj.org/article/3a23c56fed264fb687997d1d3fce1ed0
Autor:
Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer
Publikováno v:
Genes, Vol 13, Iss 10, p 1761 (2022)
Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, an
Externí odkaz:
https://doaj.org/article/a1103e11d8e14b2f9d27a99fca059002
Publikováno v:
Human Molecular Genetics.
Kabuki syndrome (KS) is a rare, multisystem disorder with a variable clinical phenotype. The majority of KS is caused by dominant loss-of-function mutations in KMT2D (lysine methyltransferase 2D). KMT2D mediates chromatin accessibility by adding meth
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 62-64 (2017)
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter
Externí odkaz:
https://doaj.org/article/d5d576a05dfc4983b552bb3c0f51f376
SUMMARYKabuki Syndrome (KS) is a rare, multisystem disorder with a variable clinical phenotype. The majority of KS is caused by dominant loss-of-function mutations inKMT2D(lysine methyltransferase 2D). KMT2D mediates chromatin accessibility by adding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::573b1d26f4026a173fe5e54790e06262
https://doi.org/10.1101/2022.10.25.22280882
https://doi.org/10.1101/2022.10.25.22280882
Autor:
Rong Mao, Emily Groopman, Raquel Fernandez, Shruthi Mohan, Amber Stafford, Heather Baudet, Meredith Weaver, Lorne Clarke, Christina Hung, Deeksha Bali, Filippo Pinto e Vairo, Lemuel Racacho, Tatiana Yuzyuk, William Craigen, Jennifer Goldstein
Publikováno v:
Molecular Genetics and Metabolism. 138:107454
Autor:
Emily Groopman, Raquel Fernandez, Shruthi Mohan, Amber Stafford, Meredith Weaver, Lorne Clarke, Christina Hung, Rong Mao, Deeksha Bali, Filippo Vairo, Tatiana Yuzyuk, William J. Craigen, Jennifer Goldstein
Publikováno v:
Molecular Genetics and Metabolism. 138:107128
Autor:
Olaf Bodamer, Zhe Su, Jian Wang, Niu Li, Yiping Shen, Yao Chen, Christina Hung, Yirou Wang, Xiumin Wang, Xin Li, Yufei Xu, Shijian Liu
Publikováno v:
American Journal of Medical Genetics Part A. 182:640-651
Kabuki syndrome (KS) is a rare disorder of transcriptional regulation with a complex phenotype that includes cranio-facial dysmorphism, intellectual disability, hypotonia, failure to thrive, short stature, and cardiac and renal anomalies. Heterozygou