Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Kylie E. Crompton"'
Autor:
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
Autor:
Jeff L. Waugh, Mahalia S.B. Frank, Xiaoyang Wang, Antigone Papavasileiou, Michael C. Sierant, Nadia Badawi, Bohao Zhang, Chongchen Zhou, Sheetal Shetty, Sheng Chih Jin, Susan M Reid, Changlian Zhu, Francisca Millan, Suzanna C. MacLennan, Julien Buratti, David J. Amor, Stephen Pastore, Lance H. Rodan, Timothy Feyma, Janice E. Brunstrom-Hernandez, Kylie E. Crompton, Megan Cho, Helen Magee, Sergio Padilla-Lopez, Julie S. Cohen, Daniela C. Zarnescu, Richard P. Lifton, Aureliane Elie, Michael C. Kruer, Qiongshi Lu, Sandra Whalen, Christopher Castaldi, John B. Vincent, Chao Gao, Irina Tikhonova, Ali Fatemi, Qinghe Xing, Dinah Reddihough, Lei Xia, Bethany Y. Norton, Shozeb Haider, Shrikant Mane, Yana A. Wilson, Dengna Zhu, Yangong Wang, Somayeh Bakhtiari, Francesc López-Giráldez, Michael C Fahey, Clare L. van Eyk, Sarah McIntyre, Jozef Gecz, Junhui Zhang, Xue Zeng, Jennifer Heim, Iona Novak, Spencer Vaughan, John P. Phillips, Sara A. Lewis, Angela E. Lin, Diane Doummar, Mark A. Corbett, Kyle Retterer, James R. Knight, Qing Shang, Boyang Li, Yiran Xu, James Liu, Boris Keren, Sandra M. Nordlie, Kaya Bilguvar, Amar H. Sheth, Dani L. Webber, Alastair H. MacLennan, Brandon S. Guida, Kelly Harper, Jesia G. Berry
Publikováno v:
Nat Genet
In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eigh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b61cf5154431c4aea3d318e3b9d69a
https://europepmc.org/articles/PMC9148538/
https://europepmc.org/articles/PMC9148538/
Autor:
Namitha Mohandas, Susan M Reid, Dinah Reddihough, David J. Amor, Janet E. Walstab, Jovana Maksimovic, Sebastian Bass-Stringer, Yuk Jing Loke, Jeffrey M. Craig, Kylie E. Crompton
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-15 (2018)
Clinical Epigenetics
Clinical Epigenetics
Background Cerebral palsy (CP) is a clinical description for a group of motor disorders that are heterogeneous with respect to causes, symptoms and severity. A diagnosis of CP cannot usually be made at birth and in some cases may be delayed until 2
Autor:
Mahalia S.B. Frank, Chao Gao, Brandon S. Guida, Dani L. Webber, Aureliane Elie, Bohao Zhang, Kelly Harper, Richard P. Lifton, Dengna Zhu, Jesia G. Berry, Iona Novak, Xiaoyang Wang, Antigone Papavasileiou, Yana A. Wilson, Francesc López-Giráldez, Michael C Fahey, Sergio Padilla-Lopez, Boris Keren, Jozef Gecz, Jeff L. Waugh, Shozeb Haider, Michael C. Sierant, Kyle Retterer, Sandra Whalen, Yangong Wang, Lance H. Rodan, Clare L. van Eyk, Megan Cho, Qiongshi Lu, Sheetal Shetty, John P. Phillips, Stephen Pastore, John B. Vincent, Chongchen Zhou, Sara A. Lewis, Bethany Y. Norton, Xue Zeng, Timothy Feyma, Qing Shang, Mark A. Corbett, Janice E. Brunstrom-Hernandez, Susan M Reid, Julie S. Cohen, Michael C. Kruer, Christopher Castaldi, Nadia Badawi, Spencer Vaughan, Qinghe Xing, Sandra M. Nordlie, Daniela C. Zarnescu, Angela E. Lin, David J. Amor, Sarah McIntyre, Julien Buratti, Jennifer Heim, Shrikant Mane, Yiran Xu, Suzanna C. MacLennan, Helen Magee, Somayeh Bakhtiari, Amar H. Sheth, Changlian Zhu, Alastair H. MacLennan, Kylie E. Crompton, Kaya Bilguvar, Sheng Chih Jin, Junhui Zhang, Diane Doummar, Francisca Millan, Irina Tikhonova, Ali Fatemi, Dinah Reddihough, Lei Xia, Hongyu Zhao, James Liu, James R. Knight, Boyang Li
Publikováno v:
Nature Genetics. 53:412-412
Autor:
Susan M Reid, Suhaila Omar, Kylie E. Crompton, Dinah Reddihough, Adam Scheinberg, Katrina Williams, Adrienne Harvey, Elaine Meehan
Publikováno v:
Journal of Paediatrics and Child Health. 52:308-314
Aim The aim of this study was to describe the patterns of therapy service use for a sample of children and adolescents with cerebral palsy over a 1 year period and to identify factors associated with frequency of therapy and parental satisfaction wit
Autor:
Michael C Fahey, Katherine J Lee, Francoise Mechinaud-Heloury, Iona Novak, Priya Edwards, Euan M. Wallace, Kylie E. Crompton, Nadia Badawi, Ngaire Elwood, Paul B. Colditz, Dinah Reddihough
Publikováno v:
BMJ Open
BMJ Open, Vol 10, Iss 3 (2020)
BMJ Open, Vol 10, Iss 3 (2020)
IntroductionCerebral palsy (CP) is the most common physical disability of childhood but has no cure. Stem cells have the potential to improve brain injury and are proposed as a therapy for CP. However, many questions remain unanswered about the most
Autor:
Pamela Clark, Kylie E. Crompton, Dinah Reddihough, Iona Novak, Ngaire Elwood, Mark A. Kirkland
Publikováno v:
Journal of Paediatrics and Child Health. 50:540-544
Aim Umbilical cord blood may have therapeutic benefit in children with cerebral palsy (CP), but further studies are required. On first appearance it seems that Australia is well placed for such a trial because we have excellence in CP research backed
Autor:
Bernard Dan, H Kerr Graham, Peter Rosenbaum, Kylie E. Crompton, Allan Colver, Jules G. Becher, Deborah Gaebler-Spira, Nigel Paneth, Diane L. Damiano, Jean-Pierre Lin, Dinah Reddihough, Richard L. Lieber
Publikováno v:
Nature Reviews Disease Primers. 2
Nature Reviews Disease Primers article number: 15082; doi:10.1038/nrdp.2015.82; published online 7 Jan 2016 In the version of the article originally published, two of the reference highlights were included in the incorrect place. The highlight for re
Autor:
H. Kerr Graham, Peter Rosenbaum, Nigel Paneth, Bernard Dan, Jean-Pierre Lin, Diane L. Damiano, Jules G. Becher, Deborah Gaebler-Spira, Allan Colver, Dinah S. Reddihough, Kylie E. Crompton, Richard L. Lieber
Publikováno v:
Graham, H K, Rosenbaum, P, Paneth, N, Dan, B, Lin, J-P, Damiano, D L, Becher, J G, Gaebler-Spira, D, Colver, A, Reddihough, D, Crompton, K E & Lieber, R L 2016, ' Cerebral palsy ', NATURE REVIEWS DISEASE PRIMERS, vol. 2, 15082 (2016) . https://doi.org/10.1038/nrdp.2015.82
Nat Rev Dis Primers
NATURE REVIEWS DISEASE PRIMERS, 2:15082 (2016). Nature Publishing Group
Nat Rev Dis Primers
NATURE REVIEWS DISEASE PRIMERS, 2:15082 (2016). Nature Publishing Group
Cerebral palsy is the most common cause of childhood-onset, lifelong physical disability in most countries, affecting about 1 in 500 neonates with an estimated prevalence of 17 million people worldwide. Cerebral palsy is not a disease entity in the t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d211c68ec5bce40f878a65a45ea1ba
https://research.vumc.nl/en/publications/384a00a5-bbfa-4aea-bcaf-eacfb1fd5316
https://research.vumc.nl/en/publications/384a00a5-bbfa-4aea-bcaf-eacfb1fd5316
Publikováno v:
Journal of Burn Care & Research. 30:717-728
Dermal skin substitutes can be used to overcome the immediate problem of donor site shortage in the treatment of major skin loss conditions, such as burn injury. In this study, the biocompatibility, safety, and potential of three variants of NovoSorb