Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Yana Kibalnyk"'
Autor:
Yana Kibalnyk, Elia Afanasiev, Ronan M. N. Noble, Adrianne E. S. Watson, Irina Poverennaya, Nicole L. Dittmann, Maria Alexiou, Kara Goodkey, Amanda A. Greenwell, John R. Ussher, Igor Adameyko, James Massey, Daniel Graf, Stephane L. Bourque, Jo Anne Stratton, Anastassia Voronova
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects. However, the role of ANKRD11 in heart
Externí odkaz:
https://doaj.org/article/ce8c90516c504572ba5ad45d0a89daf1
Autor:
Renée Dicipulo, Kacie A. Norton, Nicholas A. Fairbridge, Yana Kibalnyk, Sabrina C. Fox, Lisa K. Hornberger, Heather E. McDermid
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES h
Externí odkaz:
https://doaj.org/article/10cb6b6defd64d99b27429d0d6caef7e
Autor:
Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon
Publikováno v:
European Journal of Human Genetics. 30:1244-1254
Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals from 22 f
Autor:
Yana Kibalnyk, Ronan Noble, Maria Alexiou, Irina Poverennaya, Nicole Dittmann, Amanda Greenwell, Kara Goodkey, John Ussher, Igor Adameyko, Daniel Graf, Stephane Bourque, Anastassia Voronova
ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a risk gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects. However, the role of ANKRD11 in heart development is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbee5e3e44516e88981d85362fedfff1
https://doi.org/10.21203/rs.3.rs-2605378/v1
https://doi.org/10.21203/rs.3.rs-2605378/v1
Autor:
Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon
Genetic variants in the gene Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5933ae478f4959329b4219a7e68ae2a
https://doi.org/10.1101/2021.11.18.21266480
https://doi.org/10.1101/2021.11.18.21266480
Autor:
Gholson Lyon, Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Yana Kibalnyk, Anastassia Voronova, Tzung-Chien Hsieh, Peter Krawitz
Publikováno v:
Genetics in Medicine. 24:S112-S113
Autor:
Lisa K. Hornberger, Nicholas A. Fairbridge, Yana Kibalnyk, Heather E. McDermid, Sabrina C. Fox, Kacie A. Norton, Renée Dicipulo
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not b