Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Varina Wolf"'
Autor:
Varina Wolf, Michelle A. Patriquin, Humsini Viswanath, Yasunari Sakai, Kaylah Curtis, Chad A. Shaw, Ramiro Salas, Philip R. Baldwin
Publikováno v:
Autism Research. 9:553-562
Exome sequencing and copy number variation analyses continue to provide novel insight to the biological bases of autism spectrum disorder (ASD). The growing speed at which massive genetic data are produced causes serious lags in analysis and interpre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00d6d486719c1c9511b540226a265373
https://doi.org/10.1002/aur.1559
https://doi.org/10.1002/aur.1559
Autor:
Varina Wolf, Robin Troxell, Leandra N. Berry, Jill A. Rosenfeld, Arthur L. Beaudet, Christian P. Schaaf, Lynette S. Penney, Charles G. Minard, May Ali, Jun Ge, Ryan Miller, Patricia I. Bader, Robin P. Goin-Kochel, Jeffrey Kane, Robert Roger Lebel, Mark N. Ziats, Kristine K. Bachman, Pawel Stankiewicz, Danielle Guffey, Gary D. Clark, Michael J. Gambello
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(11)
Chromosome 15q13.3 represents a hotspot for genomic rearrangements due to repetitive sequences mediating nonallelic homologous recombination. Deletions of 15q13.3 have been identified in the context of multiple neurological and psychiatric disorders,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d282e55586a5faaf608e955349394f98
https://pubmed.ncbi.nlm.nih.gov/26963284
https://pubmed.ncbi.nlm.nih.gov/26963284
Autor:
Philip R, Baldwin, Kaylah N, Curtis, Michelle A, Patriquin, Varina, Wolf, Humsini, Viswanath, Chad, Shaw, Yasunari, Sakai, Ramiro, Salas
Publikováno v:
Autism research : official journal of the International Society for Autism Research. 9(5)
Exome sequencing and copy number variation analyses continue to provide novel insight to the biological bases of autism spectrum disorder (ASD). The growing speed at which massive genetic data are produced causes serious lags in analysis and interpre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c6ddf856706c6da881378d33843a76e
https://pubmed.ncbi.nlm.nih.gov/26451751
https://pubmed.ncbi.nlm.nih.gov/26451751
Publikováno v:
Journal of child neurology. 27(11)
Acute transverse myelitis is a clinical syndrome affecting the spinal cord, which is characterized by acute onset of motor, sensory, and autonomic dysfunction. Approximately 20% of cases of acute transverse myelitis occur in children. This review sum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5fb9c18da1d61982cc3e1a97ce285a2
https://pubmed.ncbi.nlm.nih.gov/22914370
https://pubmed.ncbi.nlm.nih.gov/22914370
Autor:
Ian M. Campbell, Katarzyna E. Kolodziejska, Melissa B. Ramocki, Varina Wolf, Michael M. Quach, Pawel Stankiewicz, Sau Wai Cheung, Seema R. Lalani
To date, over 70 mutations in the TGFBR2 gene have been reported in patients with Loeys-Dietz syndrome (LDS), Marfan syndrome type 2 (MFS2), or other hereditary thoracic aortic aneurysms and dissections. Whereas almost all of mutations analyzed thus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd3487179a4446792df372b6d26695b
https://europepmc.org/articles/PMC3646644/
https://europepmc.org/articles/PMC3646644/
Publikováno v:
American journal of medical genetics. Part A. (7)
Cardiac malformations are commonly seen in individuals with terminal and interstitial deletions involving chromosome band 7p22. Although these malformations represent a significant cause of morbidity, the dosage-sensitive gene(s) that underlie these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2321254b4415cad5deb1dc0ab2a6bc44
https://pubmed.ncbi.nlm.nih.gov/21671376
https://pubmed.ncbi.nlm.nih.gov/21671376
Publikováno v:
Neurology. 78:e126-e126
A 6-month-old boy presented with a 2-month history of developmental regression, irritability, and opisthotonic posturing. MRI demonstrated T2 hyperintensity in bilateral cerebral and peri-dentate cerebellar white matter, internal capsules, and pyrami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec35bbe869d6e7806b9f5c9c16134357
https://doi.org/10.1212/wnl.0b013e3182563bad
https://doi.org/10.1212/wnl.0b013e3182563bad
Publikováno v:
Neurology. 78:P02.175-P02.175
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f687e6833cec726d305ae632b85a3596
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p02.175
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p02.175