Zobrazeno 1 - 10
of 87
pro vyhledávání: '"David Ravine"'
Autor:
Anne Masi, Edmond J. Breen, Gail A. Alvares, Nicholas Glozier, Ian B. Hickie, Anna Hunt, Jennie Hui, John Beilby, David Ravine, John Wray, Andrew J. O. Whitehouse, Adam J. Guastella
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-11 (2017)
Abstract Background Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological me
Externí odkaz:
https://doaj.org/article/fd0c25fd91464efcb47623fc1b8e9557
Autor:
Simon Williams, Clarissa Yates, Helen Wright, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Hamid Alinejad-Rokny, Gareth Baynam, Soruba Sivamoorthy, Julian Ik-Tsen Heng, Karen J. Woodward, Cathryn Poulton
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. Methods We describe two patients with PKS, one of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eac79fca672d8f4e0def397d9cd9168
http://europepmc.org/articles/PMC5823685
http://europepmc.org/articles/PMC5823685
Autor:
Gail A. Alvares, Jennie Hui, John Wray, Ian B. Hickie, John Beilby, Adam J. Guastella, Anna Hunt, Nick Glozier, Anne Masi, Edmond J. Breen, David Ravine, Andrew J. O. Whitehouse
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-11 (2017)
Molecular Autism
Molecular Autism
Background Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01460b7fab60281df6ca5f972408c603
http://link.springer.com/article/10.1186/s13229-017-0176-2
http://link.springer.com/article/10.1186/s13229-017-0176-2
Autor:
David Ravine, Karen J. Woodward, Peter Shipman, Isabel A. Hemming, Peter Walsh, Alistair R. R. Forrest, Julian Ik-Tsen Heng
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171:458-467
Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b119082127f6fe868195123ce47c6174
https://doi.org/10.1002/ajmg.b.32427
https://doi.org/10.1002/ajmg.b.32427
Autor:
Murray T. Maybery, David Ravine, Anna Hunt, Lauren J. Taylor, John Wray, Andrew J. O. Whitehouse
Publikováno v:
Research in Autism Spectrum Disorders. 11:56-62
Recent research suggests that different genetic pathways may operate for families with one child affected with Autism Spectrum Disorder (simplex ASD), compared to families that have multiple affected children (multiplex ASD). In this study, we invest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4fe01a04704a8eb70a75f33b52a48d0
https://doi.org/10.1016/j.rasd.2014.12.003
https://doi.org/10.1016/j.rasd.2014.12.003
Autor:
David Ravine, L. Jia, G. Cao, S. Jiang, Hong Pan, Xinhua Bao, Mark R. Davis, Xiru Wu, Xiaohui Zhu, H. Lu, Helen Leonard, Jie Zhang, Stephanie Fehr
Publikováno v:
Clinical Genetics. 82:526-533
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study were to provide a precise estimate of the parental origin of MECP2 mutations using a large Chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506e059cbec216484c47b0dadf4a0b21
https://doi.org/10.1111/j.1399-0004.2011.01838.x
https://doi.org/10.1111/j.1399-0004.2011.01838.x
Autor:
Graeme Suthers, David Ravine
Publikováno v:
Journal of Clinical Pathology
The most critical performance indicator for medical laboratories is the delivery of accurate test results. In any laboratory, there is always the possibility that random or systematic errors may occur and place human health and welfare at risk. Labor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aec9cb2096659543275098c5c720a9b1
https://doi.org/10.1136/jclinpath-2011-200519
https://doi.org/10.1136/jclinpath-2011-200519
Autor:
Timothy M. E. Davis, Michael Perret, Stephanie Venkitachalam, Dayani P. Subawickrama, Kylie Van Minnen, Wendy A. Davis, David G. Bruce, David Ravine, Jaspreet Mudhar
Publikováno v:
Diabetes Care. 33:1477-1483
OBJECTIVE To investigate whether parental family history of diabetes influences cardiovascular outcomes in type 2 diabetes. RESEARCH DESIGN AND METHODS We studied 1,294 type 2 diabetic patients (mean age 64.1 years, 51.2% female) recruited to a commu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c57cfdcb235813849ec9d8fd92c5f47
https://doi.org/10.2337/dc10-0147
https://doi.org/10.2337/dc10-0147
Autor:
David Ravine, Dimitar N. Azmanov, Karen Carpenter, Natasha Buzzacott, Ratna Dubey, Jamie-Lee Ricciardi, John Beilby, Deborah Norman, Sarah L. Nickerson
Publikováno v:
Pathology. 50:S100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f262f64a77ff25b50c3aeaf2781fac81
https://doi.org/10.1016/j.pathol.2017.12.280
https://doi.org/10.1016/j.pathol.2017.12.280
Autor:
B. Banerjee, David Ravine, Daniel C. Chambers, Michael Musk, Alka Saxena, Leigh A. May, Maxine Crook, Anthony Kicic, Tracey-Lee Pullen, Kathryn A. Heel, Stephen M. Stick, Adrian Charles, Paul Rigby
Publikováno v:
The Journal of Heart and Lung Transplantation. 28:550-557
Background There is a growing expectation that cell-based therapies will prove effective for a wide range of conditions including lung diseases such as cystic fibrosis. The promise of these therapies will depend largely on effective delivery and engr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c578d319f6a447d7c1ff07311094ccd7
https://doi.org/10.1016/j.healun.2009.03.013
https://doi.org/10.1016/j.healun.2009.03.013