Zobrazeno 1 - 10
of 128
pro vyhledávání: '"Arthur R Brothman"'
Autor:
Colin T Maguire, Bradley L Demarest, Jonathon T Hill, James D Palmer, Arthur R Brothman, H Joseph Yost, Maureen L Condic
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e53372 (2013)
Human amniotic fluid contains cells that potentially have important stem cell characteristics, yet the programs controlling their developmental potency are unclear. Here, we provide evidence that amniocytes derived from multiple patients are marked b
Externí odkaz:
https://doaj.org/article/69e633d15c1149fdbeb764e369c1dab9
Publikováno v:
Prenatal Diagnosis. 33:25-31
Objective Chromosome analysis is the traditional method for detecting genetic abnormalities in products of conception, but it is prone to a high failure rate because of the requirement for cell culture. Molecular genetic tests do not require cell cul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::706aa8d1eb1bdc42629bc4e97c127092
https://doi.org/10.1002/pd.4003
https://doi.org/10.1002/pd.4003
Autor:
John A. Crolla, Justin Paschall, David H. Ledbetter, Morag N. Collinson, Ramaswamy K. Iyer, Vineith Kaul, Erin B. Kaminsky, Arthur R. Brothman, John G. Compton, Amy E. Fuller, Diane L. Pickering, Emily Aston, Todd Ackley, Stephen T. Warren, Erik C. Thorland, Sarah J. Beal, Shashirekha Shetty, Deanna M. Church, M. Katharine Rudd, Brian Bunke, Troy J. Gliem, Andres Moreno-De-Luca, Gabriele Richard, Daniel Moreno-De-Luca, Christa Lese Martin, Warren G. Sanger, Sarah T. South, Dawn Kunig, Heidi Whitby, Jennifer G. Mulle, Shuwen Huang, Swaroop Aradhya, Michael R. Rossi, Denae M. Golden
Publikováno v:
Genetics in Medicine. 13:777-784
Purpose: Copy number variants have emerged as a major cause of human disease such as autism and intellectual disabilities. Because copy number variants are common in normal individuals, determining the functional and clinical significance of rare cop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9599117d4d4b5c9274afa79f0f6715ab
https://doi.org/10.1097/gim.0b013e31822c79f9
https://doi.org/10.1097/gim.0b013e31822c79f9
Autor:
Diane L. Persons, Karl S. Theil, Daniel L. Van Dyke, Barbara K. Goodman, Debra Saxe, Jonathan P. Park, James Tepperberg, Michelle M Dolan, Kathleen S. Wilson, Karen D. Tsuchiya, Arthur R. Brothman, Daynna J. Wolff
Publikováno v:
Genetics in Medicine. 13:765-769
To evaluate the feasibility of administering a newly established proficiency test offered through the College of American Pathologists and the American College of Medical Genetics for genomic copy number assessment by microarray analysis, and to dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f06dacd4e2ba333987bedaae5b2cbeae
https://doi.org/10.1097/gim.0b013e31821d3165
https://doi.org/10.1097/gim.0b013e31821d3165
Autor:
Charles Keller, Charleen M. Moore, Gene B. Hubbard, Michael Duff Davis, Betty G. Dunn, Arthur R. Brothman, Stephanie M. Gardner, Vick Williams, Suresh I. Prajapati, Edward J. Dick
Publikováno v:
American Journal of Medical Genetics Part A. 155:1367-1373
Nonhuman primates have been a common animal model to evaluate experimentally-induced malformations. Reports on spontaneous malformations are important in determining the background incidence of congenital anomalies in specific species and in evaluati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae03118c5714d2e9dd86bcd1bb6da2f
https://doi.org/10.1002/ajmg.a.33627
https://doi.org/10.1002/ajmg.a.33627
Autor:
Jorja D Warren, Adib Younus, V. O. Speights, Jerry S. Lanchbury, Darl D. Flake, Henrik Møller, Arthur R. Brothman, Daniel M. Berney, Jack Cuzick, Susanne Wagner, Gabrielle Fisher, Gregory P. Swanson, Steven Stone, Jimmy Park, David Mesher, Alexander Gutin, Julia Reid, Christopher S. Foster, Elzbieta Stankiewicz, Peter T. Scardino
Publikováno v:
The Lancet Oncology. 12:245-255
Summary Background Optimum management of clinically localised prostate cancer presents unique challenges because of the highly variable and often indolent natural history of the disease. To predict disease aggressiveness, clinicians combine clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42790e3d63abe435038564c5d703052f
https://doi.org/10.1016/s1470-2045(10)70295-3
https://doi.org/10.1016/s1470-2045(10)70295-3
Autor:
Guangyu Gu, Arthur R. Brothman
Publikováno v:
Cancer Genetics. 204:57-67
Genetic changes associated with prostate cancer have finally begun to elucidate some of the mechanisms involved in the etiology of this complex and common disease. We highlight consistent and relatively frequent abnormalities seen by various methodol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6772b8b954ff2e55b87684ce3440971a
https://doi.org/10.1016/j.cancergencyto.2010.10.003
https://doi.org/10.1016/j.cancergencyto.2010.10.003
Autor:
J.A.S. Vorstman, G H Schuring-Blom, A. Buijs, R. Pfundt, Caleb Webber, Martin Poot, Claudia A. L. Ruivenkamp, Jayne Y. Hehir-Kwa, Joris Vermeesch, Thomas Bourgeron, Satz Mengensatzproduktion, Yves Moreau, N. de Leeuw, Jacqueline Schoumans, Jacobine E. Buizer-Voskamp, Sarah T. South, K Devriendt, A. Geurts van Kessel, Marc Gewillig, Bernard Thienpont, Druck Reinhardt Druck Basel, Eva H. Brilstra, Brigitte H. W. Faas, E. van Binsbergen, Klaske D. Lichtenbelt, Arthur R. Brothman, J.J. van der Smagt, Ron Hochstenbach, Yvonne Arens, Dominique Smeets, Roel A. Ophoff, Jeroen Breckpot, Nine V A M Knoers, L.T. van der Veken, Léon-Charles Tranchevent, Annet Simons, A.C.J. Gijsbers
Publikováno v:
Cytogenetic and Genome Research. 135:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85fcbdf93f3c888230cd29691e9c0177
https://doi.org/10.1159/000333852
https://doi.org/10.1159/000333852
Autor:
M. Katharine Rudd, Julie Sanford Biggerstaff, Lisa G. Shaffer, Ankita Patel, Warren G. Sanger, James Tepperberg, Swaroop Aradhya, Beth A. Torchia, Karen D. Tsuchiya, Erik C. Thorland, Stuart Schwartz, Arthur R. Brothman, Julie M. Gastier-Foster
Publikováno v:
Genetics in Medicine. 11:866-873
Purpose: The purpose of this study was to assess the variability in interpretation and reporting of copy number changes that are detected by array-based technology in the clinical laboratory. Methods: Thirteen different copy number changes, detected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bb85f29ac79a9cc0c85614bea953ec
https://doi.org/10.1097/gim.0b013e3181c0c3b0
https://doi.org/10.1097/gim.0b013e3181c0c3b0
Publikováno v:
Obstetrics & Gynecology. 114:1093-1102
OBJECTIVE To estimate genomic copy number changes in fetal loss between 10 and 20 weeks of gestation using array comparative genomic hybridization. METHODS This was a prospective series of 35 women who experienced pregnancy loss between 10-20 weeks o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab13767f84e3dc5315414b13ebc231c3
https://doi.org/10.1097/aog.0b013e3181bc6ab0
https://doi.org/10.1097/aog.0b013e3181bc6ab0