Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kirin Basuta"'
A pilot newborn screening (NBS) study for fragile X syndrome was recently conducted at the University of California, Davis Medical Center. The screening study identified a case of a male with the full mutation completely methylated and no detectable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c76d96508b820814b242e7efbf770b4
https://europepmc.org/articles/PMC4660861/
https://europepmc.org/articles/PMC4660861/
Autor:
Kirin Basuta, Flora Tassone, Louise W. Gane, Andrea Schneider, Dalyir L. Pretto, Randi J Hagerman, Jonathan Polussa, Bryan K. Woodruff
Publikováno v:
American journal of medical genetics. Part A. (9)
Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (FMR1) gene. Those born with FXS experience cognitive and social impairments, developmental delays, and some features of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaa32c3df62f694587b7a434959c70de
https://pubmed.ncbi.nlm.nih.gov/25920745
https://pubmed.ncbi.nlm.nih.gov/25920745
Autor:
Judith A Van de Water, Tamanna Noyon, Milo Careaga, Kirin Basuta, Flora Tassone, Paul Ashwood, Randi J Hagerman
Publikováno v:
Journal of neuroinflammation, vol 11, iss 1
Journal of Neuroinflammation
Journal of Neuroinflammation
Background Fragile X syndrome (FXS) is the leading cause of inheritable intellectual disability in male children, and is predominantly caused by a single gene mutation resulting in expanded trinucleotide CGG-repeats within the 5’ untranslated regio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c718ee45326a4aaab3bc31d9972023
https://doi.org/10.1186/1742-2094-11-110
https://doi.org/10.1186/1742-2094-11-110
Autor:
Paul J. Hagerman, Claudia M. Greco, Michael R. Hunsaker, Sébastien Jacquemont, Louise W. Gane, Lee-Way Jin, Flora Tassone, Kirin Basuta, Andreea L. Seritan, Randi J Hagerman, Robert F. Berman
Publikováno v:
Genes, Brain, and Behavior, vol. 11, no. 5, pp. 577-585
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smalle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c285ca5a166b9ce2bb93442ca45d6284
https://pubmed.ncbi.nlm.nih.gov/22463693
https://pubmed.ncbi.nlm.nih.gov/22463693
Autor:
Randi J Hagerman, Flora Tassone, Kirin Basuta, Guadalupe Mendoza-Morales, Louise W. Gane, Page L. Sorensen, Andrea Schneider
Publikováno v:
American journal of medical genetics. Part A. (5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf3ed48b674ca1c57cfc8d0d390798f
https://pubmed.ncbi.nlm.nih.gov/22488807
https://pubmed.ncbi.nlm.nih.gov/22488807
Autor:
Louise W. Gane, Vivien Narcisa, Flora Tassone, Randi J Hagerman, Alyssa Chavez, Madhur Kumar, Kirin Basuta
Publikováno v:
American journal of medical genetics. Part A. (3)
Individuals with alleles containing 55–200 CGG repeats in the fragile X mental retardation (FMR1) gene are premutation carriers. The premutation allele has been shown to lead to a number of types of clinical involvement, including shyness, anxiety,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ba368bc68c06456d0ecebf78957b77a
https://pubmed.ncbi.nlm.nih.gov/21344625
https://pubmed.ncbi.nlm.nih.gov/21344625
Autor:
Kirin Basuta, Jessica Satkoski, Sreetharan Kanthaswamy, Vivek Goyal, Alexander Kou, Venkat S. Malladi, Lilit Sarkisyan, Leanne Gill, Debra George, David Glenn Smith
Publikováno v:
Journal of medical primatology. 38(2)
Fullbred Chinese and Indian rhesus macaques represent genetically distinct populations. The California National Primate Research Center introduced Chinese founders into its Indian-derived rhesus colony in response to the 1978 Indian embargo on export
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be7165c854b959d1288199dab6bfca8e
https://pubmed.ncbi.nlm.nih.gov/18715266
https://pubmed.ncbi.nlm.nih.gov/18715266