Zobrazeno 1 - 10
of 70
pro vyhledávání: '"J. R. Lupski"'
Autor:
Tomasz Gambin, Elżbieta Ciara, Donna M. Muzny, D.L. Guilbride, Magdalena Pelc, Pawel Gawlinski, Zeynep Coban-Akdemir, Małgorzata Krajewska-Walasek, J. R. Lupski, Elżbieta Jurkiewicz, Shalini N. Jhangiani, Agnieszka Różdżyńska-Świątkowska, Mateusz Dawidziuk
Publikováno v:
Clinical Genetics. 93:919-924
We expand the Kosaki overgrowth syndrome (KOGS) phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male patient, the third overall associated with the PDGFRB c.1751C>G p.(Pro584Arg) mutation. Eighteen of these symptoms are uniqu
Autor:
A. P. Erdem, Donna M. Muzny, J. R. Lupski, Nuriye Dinckan, Ingrid S. Paine, Lauren E. Petty, Evan H. Baugh, Harshavardhan Doddapaneni, Hülya Kayserili, Jianhong Hu, Zehra Oya Uyguner, Shalini N. Jhangiani, Eric Boerwinkle, Renqian Du, Ariadne Letra, Richard A. Gibbs, Jennifer E. Below, Zeynep Coban-Akdemir
Publikováno v:
Journal of Dental Research. 97:49-59
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we c
Autor:
Marwan Shinawi, Claudia M.B. Carvalho, R. Mark Grady, Shashikant Kulkarni, J. R. Lupski, Marisa Vineyard, Joshua C. Euteneuer
Publikováno v:
Clinical Genetics. 86:487-491
Williams-Beuren syndrome (WBS) is a multisystemic genomic disorder typically caused by a recurrent ˜1.5-1.8 Mb deletion on 7q11.23. Atypical deletions can provide important insight into the genotype-phenotype correlations. Here, we report the phenot
Autor:
Matthew N. Bainbridge, Richard A. Gibbs, Murdock, Donna M. Muzny, J. R. Lupski, Yuan Qing Wu, Neil A. Hanchard, Chester W. Brown, Min Wang, Amy L. McGuire, Pilar L. Magoulas
Publikováno v:
Clinical Genetics. 83:457-461
The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as
Autor:
Fernando Scaglia, Trilochan Sahoo, Zhishuo Ou, J. R. Lupski, M Doco-Fenzy, Pawel Stankiewicz, Oleg A. Shchelochkov, Frank J. Probst, A. C. Chinault, Ankita Patel, E Lagoe, M Pearson, Weimin Bi, Christine M. Eng, S-H Kang, Sandesh C.S. Nagamani, M Mozelle, Sau Wai Cheung, Carlos A. Bacino, Marwan Shinawi, Chin-To Fong, Jill V. Hunter, Feng Zhang, Emilie Landais, Steven Sparagana
Publikováno v:
Journal of Medical Genetics. 46:825-833
Deletions in the 17p13.3 region are associated with abnormal neuronal migration. Point mutations or deletion copy number variants of the PAFAH1B1 gene in this genomic region cause lissencephaly, whereas extended deletions involving both PAFAH1B1 and
Autor:
J. R. Lupski, Xueqing Wang, Seema R. Lalani, Zhishuo Ou, Richard A. Friedman, Jennifer K. Gentile, J. F. Martin, Tomohiko Ai, Amber N. Pursley, I. Hansmann, B. A. Boggs, A. C. Chinault, Gerald F. Cox, Pawel Stankiewicz, Gladys Zapata, Susan E. Waisbren, Jeffrey A. Towbin, Weimin Bi, Ellen K. Brundage, Mehrdad Khajavi, Chad A. Shaw, John W. Belmont, Jean J. Kim, S. Schnittger, Sau Wai Cheung, L. Ma, Subeena Sood, Lorraine Potocki, Joseph V. Thakuria, Molly S. Bray, Xander H.T. Wehrens
Publikováno v:
Journal of Medical Genetics. 46:168-175
Background: Wolff-Parkinson-White syndrome (WPW) is a bypass reentrant tachycardia that results from an abnormal connection between the atria and ventricles. Mutations in PRKAG2 have been described in patients with familial WPW syndrome and hypertrop
Autor:
Lee-Jun C. Wong, K. W. Eldin, Gulam Mustafa Saifi, Cherng-Lih Perng, Michio Hirano, D. L. Cass, Adekunle M. Adesina, Kinga Szigeti, Fernando Scaglia, J. R. Lupski
Publikováno v:
Journal of Medical Genetics. 41:125-129
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency, resulting in severe gastrointestinal dysmotility and skeletal muscle abnormalities. A pati
Autor:
Asbjørg Stray-Pedersen, G. Yoon, K. Aslaksen, C. van Karnebeek, Wen Qin, Maja Tarailo-Graovac, Dejian Ren, Trine Prescott, Thorsten Gerstner, J. R. Lupski, S. Ahmed, Marielle Alders, Shalini N. Jhangiani, Jan-Maarten Cobben, Chunlei Cang, Donna M. Muzny, Sora Lee, Taila Hartley, Martine Tétreault, Kimberly Aranda
Publikováno v:
Neuromuscular Disorders. 26:S197-S198
Autor:
Ca Shaw, J. R. Lupski, A. L. Beaudet, James W. Smith, Pawel Stankiewicz, Tomasz Gambin, Amy M. Breman, Pengfei Liu, Carlos A. Bacino, Ankita Patel, S.W. Cheung, J. Rosenfeld-Mokry, Seema R. Lalani, Weimin Bi
Publikováno v:
Cancer Genetics. 209:239-240
Publikováno v:
Cytogenetic and Genome Research. 101:118-123
Jumping translocations (JTs) are very rare chromosome aberrations, usually identified in tumors. We report a constitutional JT between donor chromosome 21q21.3-->qter and recipients 13qter and 18qter, resulting in an approximately 15.5-Mb proximal de