Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Katherine R. Yearwood"'
Autor:
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)
Externí odkaz:
https://doaj.org/article/ddf394ee2a824e889ca80fd9964b128c
Autor:
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)
Summary: Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression.
Externí odkaz:
https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c
Autor:
Giavanna Verdi, Dong Li, Sarah H. Elsea, Beverly Nelson, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine R. Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L. Smith, Andrew K. Sobering
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severit
Externí odkaz:
https://doaj.org/article/50cc2808f9d749c4adc6877f09aa25b5
Autor:
Giavanna Verdi, Dong Li, Sarah H. Elsea, Beverly Nelson, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine R. Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L. Smith, Andrew K. Sobering
Publikováno v:
Mol Genet Genomic Med
The cover image is based on the Clinical Report A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay by Giavanna Verdi et al., https://doi.org/10.1002/mgg3.1900. [Image: see text]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed4d404b0745d9a3f5ad16b939721edf
https://europepmc.org/articles/PMC9000927/
https://europepmc.org/articles/PMC9000927/
Autor:
Andrew K, Sobering, Laura M, Bryant, Dong, Li, Julie, McGaughran, Isabelle, Maystadt, Stephanie, Moortgat, John M, Graham, Arie, van Haeringen, Claudia, Ruivenkamp, Roos, Cuperus, Julie, Vogt, Jenny, Morton, Charlotte, Brasch-Andersen, Maria, Steenhof, Lars Kjærsgaard, Hansen, Élodie, Adler, Stanislas, Lyonnet, Veronique, Pingault, Marlin, Sandrine, Alban, Ziegler, Tyhiesia, Donald, Beverly, Nelson, Brandon, Holt, Oleksandra, Petryna, Helen, Firth, Kirsty, McWalter, Jacob, Zyskind, Aida, Telegrafi, Jane, Juusola, Richard, Person, Michael J, Bamshad, Dawn, Earl, Anne Chun-Hui, Tsai, Katherine R, Yearwood, Elysa, Marco, Catherine, Nowak, Jessica, Douglas, Hakon, Hakonarson, Elizabeth J, Bhoj
Publikováno v:
HGG advances. 3(3)
Loss-of-function variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c452bdbda862631d8b909d28ffff1bef
https://pubmed.ncbi.nlm.nih.gov/36583168
https://pubmed.ncbi.nlm.nih.gov/36583168
Autor:
Giavanna Verdi, Dong Li, Sarah H. Elsea, Beverly Nelson, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine R. Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L. Smith, Andrew K. Sobering
Publikováno v:
Molecular geneticsgenomic medicine. 10(4)
Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severity.Via an internation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06918e9b3d46700d3c6592143a22a49b
https://pubmed.ncbi.nlm.nih.gov/35189041
https://pubmed.ncbi.nlm.nih.gov/35189041