Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Anand, Vasudevan"'
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)
Abstract Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most c
Externí odkaz:
https://doaj.org/article/df2e74638e0841458165745a0241ed55
Publikováno v:
Fertility & Reproduction, Vol 04, Iss 03n04, Pp 193-193 (2022)
Background: Fragile X syndrome (FraX) is the most common single gene cause of intellectual disability. It is caused by an unstable triplet repeat expansion in the Fragile X Mental Retardation 1 ( FMR1 ) gene. Female pre-mutation carriers are at-risk
Externí odkaz:
https://doaj.org/article/a81335c3f62e46c79aacf1f86b3aa086
Autor:
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-spe
Externí odkaz:
https://doaj.org/article/fd1d44fbca064efaae5bfc0d962bda6b
Autor:
Maja Kneissig, Kristina Keuper, Mirjam S de Pagter, Markus J van Roosmalen, Jana Martin, Hannah Otto, Verena Passerini, Aline Campos Sparr, Ivo Renkens, Fenna Kropveld, Anand Vasudevan, Jason M Sheltzer, Wigard P Kloosterman, Zuzana Storchova
Publikováno v:
eLife, Vol 8 (2019)
Cancer cells often harbor chromosomes in abnormal numbers and with aberrant structure. The consequences of these chromosomal aberrations are difficult to study in cancer, and therefore several model systems have been developed in recent years. We sho
Externí odkaz:
https://doaj.org/article/574814c022834ba19e0b5bb4d7e9d020
Autor:
Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1
https://doi.org/10.21203/rs.3.rs-2041176/v1
Autor:
David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
Publikováno v:
European journal of human genetics : EJHG.
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9193b503817104ea8baf69601988201
https://pubmed.ncbi.nlm.nih.gov/36446895
https://pubmed.ncbi.nlm.nih.gov/36446895
Autor:
Jason M. Sheltzer, Erin L. Sausville, Klaske M. Schukken, Vishruth Girish, Oluwadamilare A. Adebambo, Anand Vasudevan
Publikováno v:
Nature Reviews Cancer. 21:89-103
Aneuploidy has been recognized as a hallmark of tumorigenesis for more than 100 years, but the connection between chromosomal errors and malignant growth has remained obscure. New evidence emerging from both basic and clinical research has illuminate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::635eea08058c2465dab466876b301d61
https://doi.org/10.1038/s41568-020-00321-1
https://doi.org/10.1038/s41568-020-00321-1
Publikováno v:
JIMD Reports. 58:3-11
Vitamin B6-dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal-5'-phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::804f778b3d81bc6f16a8b73f16d00092
https://doi.org/10.1002/jmd2.12183
https://doi.org/10.1002/jmd2.12183
Publikováno v:
JIMD Reports
JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)
JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)
Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::60442ca48606764f9cc31ce7e232069b
http://europepmc.org/articles/PMC7932866
http://europepmc.org/articles/PMC7932866
Autor:
Robert Tarran, Jason M. Sheltzer, Anand Vasudevan, Alexander R. Chait, Vishruth Girish, Neil E. Alexis, Raymond D. Coakley, Monet Lou Yuan, Erin L. Sausville, Joe A Wrennall, Arunava Ghosh
Publikováno v:
American journal of respiratory and critical care medicine. 205(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3107d2aff692c3d63a7ed1ac35aa57c
https://pubmed.ncbi.nlm.nih.gov/34748720
https://pubmed.ncbi.nlm.nih.gov/34748720