Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jane Hurlburt"'
Autor:
Tracey Oh, Cornelius F. Boerkoel, Kenneth J. Poskitt, Michelle Demos, Laura Arbour, Athena Chou, Tanya N. Nelson, Nataliya Tyshchenko, Margot I. Van Allen, Jingyi Yin, Barbara McGillivray, Andreas Rump, Robin Friedlander, Christèle du Souich, Jane Hurlburt
Publikováno v:
American Journal of Medical Genetics Part A. :2469-2478
X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for approximately 10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. Prominen
Autor:
J G Hall, X Liu, E. Rajcan-Separovic, Elizabeth C. R. Mickelson, Ying Qiao, J Hildebrand, Chansonette Harvard, J. J. A. Holden, Jane Hurlburt, M. E. S. Lewis, Barbara McGillivray
Publikováno v:
Journal of Medical Genetics. 44:269-276
Background: During whole genome microarray-based comparative genomic hybridisation (array CGH) screening of subjects with idiopathic intellectual disability, we identified two unrelated individuals with a similar de novo interstitial microdeletion at
Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy
Autor:
Samantha Hansford, C. Blake Gilks, Jane Hurlburt, David G. Huntsman, Steve E. Kalloger, Jessica N. McAlpine, Sean D. Young, Kasmintan A. Schrader
Publikováno v:
Obstetrics and gynecology. 120(2 Pt 1)
To estimate the frequency of BRCA1 and BRCA2 germline mutations in women with nonmucinous epithelial ovarian carcinoma unselected for a family history of breast or ovarian cancer.From 2004 to 2009, women undergoing surgical staging for nonmucinous ep
Autor:
Millan S. Patel, Lorne A. Clarke, Barbara McGillivray, Albert E. Chudley, Patrick MacLeod, Jane Hurlburt, Laura Arbour, Christine Tyson, Jeanette J. A. Holden, Xudong Liu, William T. Gibson, Teresa Costa, E. Rajcan-Separovic, Ying Qiao, Sarah Dyack, Francois P. Bernier, Gail E. Graham, Siu-Li Yong, Sandra A. Farrell, Suzanne M E Lewis, Ross McLeod, Margot I VanAllen, Chansonette Harvard
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 1, Iss 1, p 23 (2008)
Molecular Cytogenetics, Vol 1, Iss 1, p 23 (2008)
Background Jacobsen syndrome is a rare contiguous gene disorder that results from a terminal deletion of the long arm of chromosome 11. It is typically characterized by intellectual disability, a variety of physical anomalies and a distinctive facial
Autor:
F. Lucy Raymond, Jacques L. Michaud, Gail E. Herman, Jozef Gecz, Marco A. Marra, Barbara McGillivray, David W. Stockton, Jane Hurlburt, Robert D. Steiner, Richard A. Moore, Richard I. Kelley, Michelle Demos, Andrea E. DeBarber, Christèle du Souich, Laura Arbour, Keith W. McLarren, Ryan D. Morin, Paula J. Waters, Tesa M. Severson, Jessica E. Paul, Diane Wu, Yongjun Zhao, Patrick S. Tarpey, Michael R. Stratton, David Cunningham, Steven J.M. Jones, Louise S. Merkens, Karl-Heinz Grzeschik, Debbie Shears, Charles E. Schwartz, Lisa E. Kratz, Athena Chou, Jianghong An, Guy A. Rouleau, Margot I. Van Allen, Jingyi Yin, Cornelius F. Boerkoel, Glenda Hendson, Raffaella Smith, Tanya N. Nelson
Publikováno v:
The American Journal of Human Genetics. (6):905-914
CK syndrome (CKS) is an X-linked recessive intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build. Through an X chromosome single-nucleotide variant scan in the first reported family, we ide
Autor:
Ying Qiao, M. E. Suzanne Lewis, Albert E. Chudley, Evica Rajcan-Separovic, Jane Hurlburt, Jila Dastan, Barbara McGillivray, Sandra A. Farrell, Paul Pavlidis, Eloi Mercier, Francois P. Bernier
Publikováno v:
BMC Medical Genetics
Background DNA copy number variants (CNVs) are found in 15% of subjects with ID but their association with phenotypic abnormalities has been predominantly studied in smaller cohorts of subjects with detailed yet non-systematically categorized phenoty