Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Brenda McInnes"'
Autor:
Elisabeth Soubry, Taila Hartley, Meryl Ackers, Brenda McInnes, Emilie Théberge, Andrea Goodman, Christian Marshall, Kristin Kernohan, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101486- (2024)
Externí odkaz:
https://doaj.org/article/03f9d13afed8491dbc8fb2fbb90beb0c
Autor:
Brenda McInnes, Deborah A. Marshall, Gillian Currie, Brittany Shewchuk, Christine Michaels-Igbokwe, Francois P. Bernier, Fadya Omar, Karen V. MacDonald
Publikováno v:
Genetics in Medicine. 23:272-279
Purpose We provide a description of the diagnostic odyssey for a cohort of children seeking diagnosis of a rare genetic disorder in terms of the time from initial consultation to most recent visit or receipt of diagnosis, the number of tests per pati
Autor:
Nils D. Forkert, Naomi Meeks, Amanda B. Neves, Brenda McInnes, Nicole Tartaglia, Shanlee M Davis, Ophir D. Klein, Anne Slavotinek, J. David Aponte, Jared A. J. Spitzmacher, Nick Mahasuwan, Anh M. Pham, Emily A. McCourt, Danika M. Lipman, Jordan J. Bannister, Joseph T. Shieh, A. Robertson Harrop, Ellen R. Elias, Tracey M. Ferrara, David C. Katz, Robert W. Enzenauer, Tim A. Benke, Elias Aboujaoude, Laura Pickler, Richard A. Spritz, Gary Bellus, Jonathan A. Bernstein, Sheri L. Riccardi, Shawn E. McCandless, Jacinda R. Larson, Pedro A. Sanchez-Lara, J. Patrick H. Wyse, Kathryn C. Chatfield, Francois P. Bernier, Brooke French, Anne C.-H. Tsai, Benedikt Hallgrímsson, A. Micheil Innes
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 10
Genetics in Medicine
Genetics in Medicine
Purpose Deep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of the face is affected in 30–40% of known genetic syndromes. Here, we determine whether syndromes can be diagnosed from 3D images of human faces. Me
Autor:
Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson
Publikováno v:
Am J Med Genet A
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257
https://hdl.handle.net/11424/243257
Autor:
Kym M. Boycott, Sebastian Heidenreich, Karen V. MacDonald, Deborah A. Marshall, Brenda McInnes, Meredith K. Gillespie, Francois P. Bernier, Christine M. Armour, Taila Hartley, A. Micheil Innes
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(12)
Exome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of the diagnostic odyssey. Our study examines how parents and families value ES. We developed a discre
Autor:
Sebastian Heidenreich, Francois P. Bernier, Taila Hartley, Brenda McInnes, Karen V. MacDonald, Meredith K. Gillespie, Kym M. Boycott, Deborah A. Marshall, A. Micheil Innes, Christine M. Armour
Publikováno v:
Genetics in Medicine. 21:2662
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Autor:
Steven K. Baker, Meredith K. Gillespie, Mark A. Tarnopolsky, Brenda McInnes, Dennis E. Bulman, David A. Dyment, Lauren Brady, Justin D. Wagner, Pierre R. Bourque, Jillian S. Parboosingh, Jacek Majewski, Christopher Smith, Martine Tétreault, Gabriella Horvath, Eric Bareke, J Warman-Chardon, Grace Yoon, Francois P. Bernier, Kym M. Boycott, Allan Micheil Innes, Cynthia J. Curry, Taila Hartley
Publikováno v:
Clinical genetics. 93(2)
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more rare condit
Autor:
Stephen P. Robertson, Lesley C. Adès, Arthur Grix, Vazken M. Der Kaloustian, Tamás Illés, Deborah J. Shears, Brenda McInnes, Zandra A. Jenkins, Geert Mortier, Sixto García-Miñaur, Timothy R. Morgan, Andrew Green, Charles I. Scott, Salim Aftimos, Ruth Newbury-Ecob, Linda Nicholson, Deborah Krakow, Ray Lewkonia, Odile Boute, Andrea Superti-Furga, Mieke M. van Haelst, Margo L. Whiteford, Izabela Brozek, Grazia Macini, Mohnish Suri, Andrew O.M. Wilkie, Torunn Fiskerstrand, Karolina Ochman
Publikováno v:
Robertson, S P, Jenkins, Z A, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Miñaur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, van Haelst, M M, Mancini, G, Macini, G, Illés, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C I, Ochman, K, Brozek, I, Shears, D J, Superti-Furga, A, Suri, M, Whiteford, M, Wilkie, A O M & Krakow, D 2006, ' Frontometaphyseal dysplasia : mutations in FLNA and phenotypic diversity ', American Journal of Medical Genetics Part A, vol. 140, no. 16, pp. 1726-36 . https://doi.org/10.1002/ajmg.a.31322
American Journal of Medical Genetics Part A, 140(16), 1726-36. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 140(16), 1726-36. Wiley-Liss Inc.
Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. Extraskeletal features include tracheobronchial, cardiac, and urologica
Autor:
Jillian S. Parboosingh, Tanya L. Gillan, Judy Chernos, Brenda McInnes, Shashirekha Shetty, Francois P. Bernier, Kym M. Boycott, Kathy Bowser
Publikováno v:
Clinical dysmorphology. 16(4)
We describe a female infant with complex craniosynostosis, significant craniofacial dysmorphism and developmental delay in which a de-novo apparently balanced translocation between chromosomes 7 and 18 [46,XX,t(7;18)(p15.3;q11.2)] was identified. Add
Publikováno v:
Zygote (Cambridge, England). 7(2)
The frequency of aneuploid sperm was assessed by fluorescence in situ hybridisation (FISH) in a 47,XYY male previously studied by sperm karyotyping. A total of 20 021 sperm were studied: 10 017 by two-colour FISH for chromosomes 13 and 21 and 10 002