Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Yesim Ilkin"'
Autor:
Hajira B. Koeller, Alice Abd El-Aleem, Marwa Shehab, Joseph G. Gleeson, Ghada M H Abdel-Salam, M. Elizabeth Ross, Yesim Ilkin, Maha S. Zaki, William B. Dobyns
Publikováno v:
American Journal of Medical Genetics Part A. :939-944
Two siblings from a consanguineous Egyptian marriage showed an identical phenotype of cortical lissencephaly with cerebellar hypoplasia, severe epilepsy, and mental retardation. Examination of karyotype revealed 46, t(7;12)(q22;p13)mat (7;12)(q22;p13
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
Autor:
Victor V. Chizhikov, Richard Roberts, Linda L. Washburn, Kathleen J. Millen, Ekaterina Y. Steshina, Yesim Ilkin
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 17(10)
Mice homozygous for the dreher (dr) mutation are characterized by pigmentation and skeletal abnormalities and striking behavioral phenotypes, including ataxia, vestibular deficits, and hyperactivity. The ataxia is associated with a cerebellar malform
Autor:
David H. Ledbetter, Andrew Wong, Christa Lese Martin, Yesim Ilkin, Konstantina Heretis, Eric J. Vallender, Bruce T. Lahn
Publikováno v:
Genomics. 84(2)
The telomeric region of chromosome 9p is paralogous to the pericentromeric regions of chromosome 9 as well as to 2q13, the site of an ancestral telomere-telomere fusion. These paralogous regions span approximately 200 kb and contain seven transcripti