Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Rena J. Vanzo"'
Autor:
Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Background Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide
Externí odkaz:
https://doaj.org/article/6007780ec2fa4da7a8189fa02220cd7a
Autor:
Karen S. Ho, E. Robert Wassman, Adrianne L. Baxter, Charles H. Hensel, Megan M. Martin, Aparna Prasad, Hope Twede, Rena J. Vanzo, Merlin G. Butler
Publikováno v:
International Journal of Molecular Sciences, Vol 17, Iss 12, p 2070 (2016)
Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its im
Externí odkaz:
https://doaj.org/article/2330efd86d5e43a294040be62ec7a272
Autor:
William B. Dobyns, Susan Winter, Ryan N. Traylor, Rena J. Vanzo, Julie S. Cohen, Martin G. Bialer, Eric D. Marsh, Blake C. Ballif, Alex R. Paciorkowski, Ali Fatemi, Yves Lacassie, Roger A. Schultz, Brenda E. Porter, Jacqueline M. Hoover, Elizabeth Berry-Kravis, Anu Venkat, Jill A. Rosenfeld, Catharine J. Harris, Allen N. Lamb, Lisa G. Shaffer, Marni J. Falk
Publikováno v:
Neurogenetics. 14(2)
MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6ab64b0c2ca45cedfc885da35d06a4
https://pubmed.ncbi.nlm.nih.gov/23389741
https://pubmed.ncbi.nlm.nih.gov/23389741
Autor:
Stephen C. Gammie, Sharon A. Stevenson, Heather M. Jessen, Anthony P. Auger, Rena J. Vanzo, Tarif Awad
We previously applied selective breeding on outbred mice to increase maternal aggression (maternal defense). In this study, we compared gene expression within a continuous region of the central nervous system (CNS) involved in maternal aggression (hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac79a3f7ebcbee26c7a73cc18934931
https://europepmc.org/articles/PMC1994650/
https://europepmc.org/articles/PMC1994650/
