Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jacqueline A. Duvall"'
Autor:
Richard D. Todd, Jacqueline A. Duvall, Daniel H. Geschwind, Ake T. Lu, John N. Constantino, Rita M. Cantor
Publikováno v:
American Journal of Psychiatry. 164:656-662
Objective: Autism is a complex genetic disorder with a highly heterogeneous phenotype defined by repetitive behaviors, language deficits, and problems with reciprocal social interactions. The authors present the first genome-wide scan for a social en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f76764673062cc9a1ced11771ca9a93
https://doi.org/10.1176/ajp.2007.164.4.656
https://doi.org/10.1176/ajp.2007.164.4.656
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
Autor:
Stanley F. Nelson, Julia V. Perederiy, Jacqueline A. Duvall, Brett S. Abrahams, Christa Lese Martin, Jonathan Sebat, Jamee M. Bomar, David H. Ledbetter, Michael Wigler, Maricela Alarcón, Daniel H. Geschwind, Rita M. Cantor, Jennifer Stone
Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bfcf63e79cdb296b257f0b0301f1c6a
https://europepmc.org/articles/PMC2253955/
https://europepmc.org/articles/PMC2253955/
Autor:
Yesim Ilkin, Kathleen W. Rao, Jason S. Simon, Edwin H. Cook, Christa Lese Martin, Daniel H. Geschwind, Ana Isabel Alvarez-Retuerto, M. Gladys Arreaza, Jacqueline A. Duvall, Cynthia M. Powell, Amy Whichello, Kristin Wilkes
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (7)
Cytogenetic imbalances are increasingly being realized as causes of autism. Here, we report a de novo translocation between the short arms of chromosomes 15 and 16 in a female with autism, epilepsy, and global developmental delay. FISH analysis ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f53a261576c47a2d174548346f3aefe
https://pubmed.ncbi.nlm.nih.gov/17503474
https://pubmed.ncbi.nlm.nih.gov/17503474