Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Melanie M. Mahtani"'
Autor:
Wilson W L Sung, S. Mohsen Hosseini, Brett Trost, Stephen W. Scherer, John Wei, James Ellis, Jeffrey R. MacDonald, Sarah Bowdin, Janet A. Buchanan, M. Stephen Meyn, Miriam S. Reuter, Rohan V. Patel, Giovanna Pellecchia, Allison Hazell, Ryan A. Cook, Sergio L. Pereira, Bhooma Thiruvahindrapuram, Jennifer L. Howe, Iris Cohn, Lisa J. Strug, Ryan K. C. Yuen, Peter Pasceri, Yvonne Bombard, Joe Whitney, Hin C. Lee, Tara Paton, Anne S. Bassett, Rosanna Weksberg, Jill Davies, Barbara Kellam, Dimitri J. Stavropoulos, Wei Wei, Christian R. Marshall, Cheryl Shuman, Marc Fiume, Fred W. Keeley, Richard F. Wintle, Matthew R. Hildebrandt, Jo Anne Herbrick, Zhuozhi Wang, Peter N. Ray, Thomas Nalpathamkalam, Ronald D. Cohn, Sherilyn L. Bell, Neal Sondheimer, Daniele Merico, Susan Walker, Ann M. Joseph-George, Melanie M. Mahtani, Asli Romm, Chao Lu, Michael J. Szego, Nasim Monfared
Publikováno v:
Canadian Medical Association Journal. 190:E126-E136
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. M
Autor:
Alison Brown, Angels Costa, James L. Mills, Michael P. Bulman, Francesco Prisco, Sian Ellard, Timo Kanninen, Youxiang Wang, Yamina Benmezroua, Julie Evans, R Wright-Pascoe, Jean Claude Chevre, Torben Hansen, Pamidghantam Subba Rao, Oluf Pedersen, Martine Vaxillaire, Stephan Menzel, Ignacio Cognet, Peter Almgren, Melanie M. Mahtani, Timothy M. Frayling, Leif Groop, Christian Dina, Tiinamaija Tuomi, Marie Wishart, Cécile Lecoeur, Andrew T. Hattersley, Philippe Froguel, Cecilia M. Lindgren
Publikováno v:
University of Copenhagen
Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non–insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximat
Autor:
Donna M. Brown, Nicholas K. Hayward, Marilyn K. Walters, Larry J. Siever, Deborah A. Nertney, Nancy C. Andreasen, Richard C. Mohs, Bryan J. Mowry, Helen L. Jones, Leonid Kruglyak, Andrew Kirby, David P. Lennon, Melanie M. Mahtani, Derek J. Nancarrow, Jennifer M. Taylor, Douglas F. Levinson, Donald W. Black, Jean Endicott, Raymond R. Crowe, Jeremy M. Silverman, Lawrence Sharpe
Publikováno v:
ResearcherID
These data provide no support for the hypothesis that a schizophrenia susceptibility gene of major to moderate effect within our data set maps to one of these bipolar susceptibility regions on 4p, 18p, and 18q. When our results are considered in the
Publikováno v:
Genome Research. 8:100-110
Classical genetic studies in Drosophila and yeast have shown that chromosome centromeres have a cis-acting ability to repress meiotic exchange in adjacent DNA. To determine whether a similar phenomenon exists at human centromeres, we measured the rat
Autor:
Melanie M. Mahtani, Ilkka Kaitila, Greg Clines, Albert de la Chapelle, Michael Lovett, Eric S. Lander, Mary Pat Reeve-Daly, J. Hästbacka, Bruce A. Hamilton, Bijal Trivedi, Mark J. Daly, Alan Buckler, Alix Weaver, Kenro Kusumi, Antonio Coloma
Publikováno v:
Cell. 78:1073-1087
Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. The disease occurs in most populations, but is particularly
Publikováno v:
Genomics. 10:849-857
We report a high-resolution genetic linkage map of the region Xp11.4 to Xq13.3, spanning the centromere of the X chromosome and encompassing approximately 30 cM. This 18-locus map is composed of 11 intervals that are spaced on average about 3 cM apar
Complex genomes are characterized by large amounts of tandemly repeated DNA that can comprise up to several percent of the genome in some organisms (1,2). The analysis of the organization of this type of DNA presents certain challenges owing to its r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b179a14cf7134000c51a224c238b15d
https://doi.org/10.1385/0-89603-229-9:299
https://doi.org/10.1385/0-89603-229-9:299
Autor:
Melanie M. Mahtani, M. Lehto, Timo Kanninen, J Meyer, Eric S. Lander, Leif Groop, Mark J. Daly, M P Reeve, M I McCarthy, Leonid Kruglyak, A Parker, E Widén, Cecilia M. Lindgren, Tiinamaija Tuomi, Peter Almgren, Andrew Kirby
Publikováno v:
University of Helsinki
Type 2 diabetes mellitus is a heterogeneous inherited disorder characterized by chronic hyperglycemia resulting from pancreatic beta-cell dysfunction and insulin resistance. Although the pathogenic mechanisms are not fully understood, manifestation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fcd11f233c9f354a0aec96007202010
https://europepmc.org/articles/PMC384923/
https://europepmc.org/articles/PMC384923/
Publikováno v:
Human molecular genetics. 2(4)
We report a high rate of new mutation at a short tandem repeat sequence polymorphism (STR, microsatellite) at locus DXS981 on the proximal long arm of the human X chromosome. Among individuals of the CEPH pedigrees, new allele lengths are detected at
Publikováno v:
Genomics. 7(4)
Using pulsed-field gel analysis (PFGE), we have characterized the large array of alpha-satellite DNA located in the centromeric region of the human X chromosome. The tandem repetitive nature of this DNA family lends itself to examination by PFGE usin