Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Val V. Zvereff"'
Publikováno v:
Genetics in Medicine. 16:539-546
The aim of this study was to compare the mutation frequency distribution for a 32-mutation panel and a 69-mutation panel used for cystic fibrosis carrier screening. Further aims of the study were to examine the race-specific detection rates provided
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f130294586537c51a9c97c79ce012ad
https://doi.org/10.1038/gim.2013.188
https://doi.org/10.1038/gim.2013.188
Autor:
Christina Bridges, Ramaswamy K. Iyer, Lisa V. Kalman, Pinar Bayrak-Toydemir, Jack Tarleton, Shannon D. Barker, Arlene Buller-Burckle, Lorraine Toji, Sherri J. Bale, Soma Das, Timothy D. Vo, Val V. Zvereff, Alan K. Percy, Swaroop Aradhya
Publikováno v:
The Journal of Molecular Diagnostics. 16(2):273-279
Rett syndrome is a dominant X-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the MECP2 gene. It is most common in females but lethal in males, with a distinctly different phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e315ac848c49892d05e21464ae541e4
Autor:
Val V. Zvereff, Amy Pizzino, Meaghan Martin, Jessica E. King, Amy Dexter, Adeline Vanderver, Inder K. Gadi, Miriam Bloom, Johanna L. Schmidt
Publikováno v:
Journal of genetic counseling. 23(5)
Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2bfe60fca90688f9c1ef61325b18e93
https://pubmed.ncbi.nlm.nih.gov/24777551
https://pubmed.ncbi.nlm.nih.gov/24777551
Autor:
Debra Rita, Larry White, Ashley Wilson, Kenneth J. Friedman, Val V. Zvereff, Huong Cabral, Lori Carpenter, Dagny Patton, Kwame Anyane-Yeboa
Publikováno v:
Braindevelopment. 34(9)
Rett syndrome (OMIM 312750) is a progressive, X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene located on chromosome Xq28. The disorder is characterized by a period of normal development during the first 6-18months of life,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ffed020de1f868819018b2bc9e9be9
https://pubmed.ncbi.nlm.nih.gov/22277191
https://pubmed.ncbi.nlm.nih.gov/22277191