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Huan Mo William K Thompson Luke V Rasmussen Jennifer A Pacheco Guoqian Jiang Richard Kiefer Qian Zhu Jie Xu Enid Montague David S Carrell Todd Lingren Frank D Mentch Yizhao Ni Firas H Wehbe Peggy L Peissig Gerard Tromp Eric B Larson Christopher G Chute Jyotishman Pathak Joshua C Denny Peter Speltz Abel N Kho Gail P Jarvik Cosmin A Bejan Marc S Williams Kenneth Borthwick Terrie E Kitchner Dan M Roden Paul A Harris 《J Am Med Inform Assoc》2015,22(6):1220-1230
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Jianhua Zhao Mingyao Li Jonathan P Bradfield Haitao Zhang Frank D Mentch Kai Wang Patrick M Sleiman Cecilia E Kim Joseph T Glessner Cuiping Hou Brendan J Keating Kelly A Thomas Maria L Garris Sandra Deliard Edward C Frackelton F George Otieno Rosetta M Chiavacci Robert I Berkowitz Hakon Hakonarson Struan FA Grant 《BMC medical genetics》2010,11(1):1-7
Background
Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD).Case Presentation
We describe a 17-year-old girl with autism, severe mental retardation, epilepsy, and partial 9p duplication syndrome features in whom GTG-banded chromosome analysis revealed a female karyotype with a marker chromosome in 69% of analyzed metaphases. Array CGH analysis showed that the marker chromosome originated from 9p24.3 to 9p13.1 with a gain of 38.9 Mb. This mosaic 9p duplication was detected only in the proband and not in the parents, her four unaffected siblings, or 258 ethnic controls. Apart from the marker chromosome, no other copy number variations (CNVs) were detected in the patient or her family. Detailed analysis of the duplicated region revealed: i) an area extending from 9p22.3 to 9p22.2 that was previously identified as a critical region for the 9p duplication syndrome; ii) a region extending from 9p22.1 to 9p13.1 that was previously reported to be duplicated in a normal individual; and iii) a potential ASD locus extending from 9p24.3 to 9p23. The ASD candidate locus contained 34 genes that may contribute to the autistic features in this patient.Conclusion
We identified a potential ASD locus (9p24.3 to 9p23) that may encompass gene(s) contributing to autism or ASD. 相似文献4.
Monica E. Calkins Kathleen R. Merikangas Tyler M. Moore Marcy Burstein Meckenzie A. Behr Theodore D. Satterthwaite Kosha Ruparel Daniel H. Wolf David R. Roalf Frank D. Mentch Haijun Qiu Rosetta Chiavacci John J. Connolly Patrick M.A. Sleiman Ruben C. Gur Raquel E. Gur 《Journal of child psychology and psychiatry, and allied disciplines》2015,56(12):1356-1369
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Robinson Jamie R. Carroll Robert J. Bastarache Lisa Chen Qingxia Mou Zongyang Wei Wei-Qi Connolly John J. Mentch Frank Sleiman Patrick Crane Paul K. Hebbring Scott J. Stanaway Ian B. Crosslin David R. Gordon Adam S. Rosenthal Elisabeth A. Carrell David Hayes M. Geoffrey Wei Wei Petukhova Lynn Namjou Bahram Zhang Ge Safarova Maya S. Walton Nephi A. Still Christopher Bottinger Erwin P. Loos Ruth J. F. Murphy Shawn N. Jackson Gretchen P. Kullo Iftikhar J. Hakonarson Hakon Jarvik Gail P. Larson Eric B. Weng Chunhua Roden Dan M. Denny Joshua C. 《World journal of surgery》2020,44(1):84-94
World Journal of Surgery - The extent to which obesity and genetics determine postoperative complications is incompletely understood. We performed a retrospective study using two population cohorts... 相似文献
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Stanislaw J. Gabryszewski Xiao Chang Jesse W. Dudley Frank Mentch Michael March John H. Holmes Jason Moore Robert W. Grundmeier Hakon Hakonarson David A. Hill 《The Journal of allergy and clinical immunology》2021,147(2):677-685.e10
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