Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sara A Hornor"'
Autor:
Sara L. Minier, Aaron Theisen, Richard M. Lloyd, Bassem A. Bejjani, Sara A Hornor, Blake C. Ballif, Emily A. Rorem, Scott G. Sulpizio, Lisa G. Shaffer
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 9(3)
Purpose: Small supernumerary marker chromosomes are centric chromosomal segments that, by definition, cannot be characterized unambiguously by conventional chromosome banding. Marker chromosomes are of particular interest in clinical cytogenetics bec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0e44bc22203c9b8282a77212481f7e
https://pubmed.ncbi.nlm.nih.gov/17413419
https://pubmed.ncbi.nlm.nih.gov/17413419
Autor:
Livija Medne, Lisa G. Shaffer, Pamela L. Brock, Alexander Asamoah, Peggy S. Eis, Bassem A. Bejjani, Suneeta Madan-Khetarpal, Sara A Hornor, Robert L. Conway, Elizabeth Jenkins, Kelly E. Jackson, Elaine H. Zackai, Urvashi Surti, Joel Geoghegan, Gordon C. Gowans, John M. Graham, Blake C. Ballif, Rebecca R. Selzer, Tamim H. Shaikh
Publikováno v:
Nature genetics. 39(9)
We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2386041121129468fecdaf212b7d897b
https://pubmed.ncbi.nlm.nih.gov/17704777
https://pubmed.ncbi.nlm.nih.gov/17704777