Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Olivia L. Katz"'
Autor:
Yaning Wu, Maria Gause, Dongbin Xu, Ziva Misulovin, Cheri A Schaaf, Ramya C Mosarla, Elizabeth Mannino, Megan Shannon, Emily Jones, Mi Shi, Wen-Feng Chen, Olivia L Katz, Amita Sehgal, Thomas A Jongens, Ian D Krantz, Dale Dorsett
Publikováno v:
PLoS Genetics, Vol 11, Iss 11, p e1005655 (2015)
Individuals with Cornelia de Lange Syndrome (CdLS) display diverse developmental deficits, including slow growth, multiple limb and organ abnormalities, and intellectual disabilities. Severely-affected individuals most often have dominant loss-of-fun
Externí odkaz:
https://doaj.org/article/8f9fec2959ca49adb0fe3c3b042b0b61
Autor:
Olivia L. Katz, K. Taylor Wild, Deborah McEldrew, Maninder Kaur, Sarah Raible, Cara M. Skraban, Elaine H. Zackai, Livija Medne, Kosuke Izumi, Sierra Fortunato, Jamila Weatherly, Tiffiney Hartman, Paul Deppen, Justin Blair, Batsal Devkota, Emma Schindler, Holly L. Hedrick, William Peranteau, Ian D. Krantz
Publikováno v:
The Journal of Pediatrics. 246:251-265.e2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767b7a83cc92a17b63e5251036ece40d
https://doi.org/10.1016/j.jpeds.2022.03.023
https://doi.org/10.1016/j.jpeds.2022.03.023
Autor:
Blake D. Hansen, Sylvia A. Huisman, Lynne M. Kerr, Ian D. Krantz, Matthew A. Deardorff, Jason A. Mills, Alena Egense, Jeremy Morgan, Meng Wu, Dale Dorsett, Devanshi Mehta, Olivia L. Katz, Katsuhiko Shirahige, Sarah E. Noon, Chiara Bettale, Pamela S. Herrera, Richard E. Haaland, Joseph P. McCleery, Antonie D. Kline, Cheri S. Carrico, Jo Moss, Siddharth Srivastava, Emily Taylor-Snell, Jennifer L. Gerton, Marco A. Grados, Antonio Musio, Anne L. Calof, Julia A. Horsfield
Publikováno v:
American journal of medical genetics. Part A, 173(5), 1172-1185. Wiley-Liss Inc.
Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::555518f8640e766b035b33ceca64ea45
https://doi.org/10.1002/ajmg.a.38161
https://doi.org/10.1002/ajmg.a.38161
Autor:
Vijay Pratap Singh, Stephenson Chea, Toyonori Sakata, Julia O'Connor, Jennifer L. Gerton, Julia A. Horsfield, Kristin W. Barañano, Gholson J. Lyon, Ian D. Krantz, Bryan E. McGill, Richard E. Haaland, Patti Caudill, Douglas K. Clemens, Dale Dorsett, Masashige Bando, Antonie D. Kline, Cheri S. Carrico, Olivia L. Katz, Katsuhiko Shirahige, Suhas S.P. Rao, Aila K. Dommestrup, Sarah E. Raible, Antonio Musio, Anne L. Calof, Valentina Massa, Marco A. Grados
Publikováno v:
Am J Med Genet A
Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86395ecc4bd39c11de89925d9bc11c35
https://europepmc.org/articles/PMC9987326/
https://europepmc.org/articles/PMC9987326/
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. 172(2)
This report describes a male child with a history of poor feeding and swallowing problems, hypotonia, mild bilateral sensorineural hearing loss, cerebral cortical agenesis, cardiac defects, cyanotic episodes triggered by specific movement, dysmorphic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c9d8070f51cfdad2aad40148ed868e
https://pubmed.ncbi.nlm.nih.gov/27096924
https://pubmed.ncbi.nlm.nih.gov/27096924
Autor:
Maria Gause, Ian D. Krantz, Wen Feng Chen, Megan Shannon, Dongbin Xu, Elizabeth Mannino, Ziva Misulovin, Cheri A. Schaaf, Mi Shi, Olivia L. Katz, Ramya C. Mosarla, Emily Jones, Dale Dorsett, Amita Sehgal, Thomas A. Jongens, Yaning Wu
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 11, Iss 11, p e1005655 (2015)
PLoS Genetics, Vol 11, Iss 11, p e1005655 (2015)
Individuals with Cornelia de Lange Syndrome (CdLS) display diverse developmental deficits, including slow growth, multiple limb and organ abnormalities, and intellectual disabilities. Severely-affected individuals most often have dominant loss-of-fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63628c8f84036716d559337a67e86ea2
https://pubmed.ncbi.nlm.nih.gov/26544867
https://pubmed.ncbi.nlm.nih.gov/26544867