Zobrazeno 1 - 10
of 48
pro vyhledávání: '"astrid weber"'
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Autor:
Rebecca S. Tooze, Eduardo Calpena, Astrid Weber, Louise C. Wilson, Stephen R. F. Twigg, Andrew O. M. Wilkie
Publikováno v:
Genes, Vol 14, Iss 3, p 615 (2023)
Craniosynostosis, the premature fusion of the cranial sutures, affects ~1 in 2000 children. Although many patients with a genetically determined cause harbor a variant in one of just seven genes or have a chromosomal abnormality, over 60 genes are kn
Externí odkaz:
https://doaj.org/article/a314a6c6bc1c4e0eac25a2b05c7cc84a
Autor:
Diana Baralle, Susan Walker, Ramya Srinivasan, Shelagh Joss, Jonathan Berg, Miranda Splitt, Usha Kini, Pradeep Vasudevan, John Dean, Yanick Crow, Beverly Searle, Julian Barwell, Lyn Chitty, Peter Holmans, Sarah Law, Virginia Clowes, Rachel Harrison, Muriel Holder, Sahar Mansour, Spiros Denaxas, Ellie Kerry, Frances Flinter, Zheng Ye, Julia Rankin, Oliver Quarrell, Nicola Lewis, Anne Lampe, Astrid Weber, David Skuse, Kate Baker, Annie Procter, Jeremy Hall, Alison Kraus, Neil Walker, Jeanne Wolstencroft, Laura Hull, Lauren Warner, Tooba Nadeem Akhtar, William Mandy, Eleanor Dewhurst, Amy Lafont, F Lucy Raymond, Terry Shirley, Hayley Tilley, Husne Timur, Catherine Titterton, Sarah Wallwork, Francesca Wicks, Marie Erwood, Sophie Andrews, Philippa Birch, Samantha Bowen, Karen Bradley, Aimee Challenger, Samuel Chawner, Andrew Cuthbert, Sinead Morrison, Hayley Moss, Michael Owen, Sinead Ray, Matthew Sopp, Molly Tong, Marianne van den Bree, Nadia Coscini, Hayley Denyer, Nasrtullah Fatih, Manoj Juj, Anna Lucock, Frida Printzlau, Alice Watkins, Anna Pelling, Lisa Robertson, Denise Williams Alan, Donaldson Lucy, Fleur van Dijk
Publikováno v:
BMJ Open, Vol 11, Iss 9 (2021)
Externí odkaz:
https://doaj.org/article/6e3c9d93947f4c879e95fa8e598ed6e2
Autor:
Astrid Weber, Mark Dzietko, Monika Berns, Ursula Felderhoff-Mueser, Uwe Heinemann, Rolf F. Maier, Michael Obladen, Chrissanthi Ikonomidou, Christoph Bührer
Publikováno v:
Neurobiology of Disease, Vol 20, Iss 2, Pp 594-600 (2005)
Both mild hypoxia and exogenous erythropoietin may protect the brain against subsequent severe hypoxia, and the conditioning effect of transient hypoxia is partly mediated by hypoxia-induced endogenous erythropoietin. We now observed in several exper
Externí odkaz:
https://doaj.org/article/9ec2941ff829409dba54f852ca50a45a
Autor:
Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford, Kate Baker, Samuel J R A Chawner, Jeremy Hall, Marianne B M van den Bree, Michael J Owen, David Skuse, F Lucy Raymond, Marie Erwood, Amy Lafont, Husne Timur, Zheng Ye, Susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denyer, Alice Watkins, Eleanor Kerry, Nadia Coscini, Nasrtullah Fatih, Anna Lucock, Spiros Denaxas, William Mandy, Neil Walker, Sarah Wallwork, Eleanor Dewhurst, Andrew Cuthbert, Aimee Challenger, Sophie Andrews, Peter Holmans, Samantha Bowen, Karen Bradley, Philippa Birch, Molly Tong, Nicola Lewis, Sinead Ray, Matthew Sopp, Hayley Moss, Beverley Searle, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, Paul Brennan, Alison Kraus, Nayana Lahiri, Astrid Weber, Myfanwy Rawson, Diana Johnson, Pradeep Vasudevan, Rachel Harrison, Denise Williams, Eamonn Maher, Usha Kini, Fleur Van Dijk, Virginia Clowes, Jana Gurasashvilli, Sahar Mansour, Muriel Holder-Espinasse, Amy Watford, Julia Rankin, Diana Baralle, Annie Procter, Samuel Chawner, Marianne B M Van den Bree
Publikováno v:
The Lancet Psychiatry. 9:715-724
Background\ud Children with intellectual disability frequently have multiple co-morbid neuropsychiatric conditions and poor physical health. Genomic testing is increasingly recommended as a first-line investigation for these children. We aim to deter
Autor:
Arthur R. Kurzbuch, Ben Cooper, Christian Duncan, Jonathan Ellenbogen, David Richardson, Ajay Sinha, Astrid Weber, Sivagamy Sithambaram, Anusha Hennedige, Chris Parks
Publikováno v:
Journal of Craniofacial Surgery.
Autor:
Jaisie Sin, Cosmin Munteanu, Jenny Waycott, Robin N. Brewer, Sergio Sayago, Amanda Lazar, Astrid Weber
Publikováno v:
CHI Conference on Human Factors in Computing Systems Extended Abstracts.
Autor:
Jeanne Wolstencroft, Francesca Wicks, Marie Erwood, ramya srinivasan, Amy Lafont, Husniye Timur, Zheng Ye, susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denver, Alice Watkins, Eleanor Kerry, Anna Lucock, Nasratullay Fatih, Sarah Wynn, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, paul brennan, alison Kraus, astrid weber, Myfanwy Rawson, diana Johnson, pradeep vasudevan, rachel harrison, denise williams, Eamonn Maher, Usha Kini, Virginia Clowes, Jana Gurasashvili, sahar mansour, muriel Holder-Espinasse, Amy Watford, julia rankin, diana baralle, annie procter, Tamsin Ford, kate baker, Samuel chawners, Jeremy Hall, Marianne van den Bree, Michael Owen, IMAGINE Consortium, David Skuse, F. Lucy Raymond
Publikováno v:
SSRN Electronic Journal.
Autor:
Irene M.J. Mathijssen, Helen Lord, Wanda Lattanzi, Stephen R.F. Twigg, Andrew O.M. Wilkie, Nils Koelling, David W. Johnson, Eduardo Calpena, Astrid Weber, Araceli Cuellar, Sigrid M. A. Swagemakers, Jenny Morton, Deborah J. Shears, Julie M. Phipps, Tracy Lester, Simeon A. Boyadjiev, Simon J. McGowan, Sofia Douzgou, Louise C. Wilson, Michael L. Cunningham, Steven A. Wall, Meena Balasubramanian, Krithi Bala
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 22(9), 1498-1506. Lippincott Williams & Wilkins
Genetics in Medicine, 22(9), 1498-1506. Lippincott Williams & Wilkins
Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism near BMP2 (rs1884302) was proposed to contribute t
Autor:
Zerin Hyder, Eduardo Calpena, Yang Pei, Rebecca S. Tooze, Helen Brittain, Stephen R.F. Twigg, Deirdre Cilliers, Jenny E.V. Morton, Emma McCann, Astrid Weber, Louise C. Wilson, Andrew G.L. Douglas, Ruth McGowan, Anna Need, Andrew Bond, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Christopher R. Boustred, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Susan L. Hill, Zandra C. Deans, Freya Boardman-Pretty, Mark Caulfield, Richard H. Scott, Andrew O.M. Wilkie
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PurposeGenome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic sensitivity. We evaluated the performance of the Ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9eed5d7ca7a0485c39fbde57ad0b2d7
https://doi.org/10.1038/s41436-021-01297-5
https://doi.org/10.1038/s41436-021-01297-5
Autor:
Andrew Swale, Nicolas Descostes, William B. Dobyns, Sanxiong Liu, Christiane Zweier, Chai-An Mao, Ivan Ivanovski, Danny Reinberg, Livia Garavelli, Megan T. Cho, James M. Stafford, Wukui Zhao, Tudor C. Badea, Pedro Lee, Kimberly A. Aldinger, Orsetta Zuffardi, Takae Kiyama, Jennifer B. Humberson, M. Scott Perry, Astrid Weber, Edoardo Errichiello, Stefano Giuseppe Caraffi, Hanna K. McNamara, Michael C. Schneider, Antigone Papavasiliou, Chi Vicky Cheng, Mitali Dave
Publikováno v:
Mol Cell
SUMMARYThe heterogeneous complexes comprising the family of Polycomb Repressive Complex 1 (PRC1) are instrumental to establishing facultative heterochromatin that is repressive to transcription. Yet, two PRC1 species, PRC1.3 and PRC1.5, are known to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b6d4d7c7ce813bbeb631b6c7eaa9ea5
https://doi.org/10.1101/2021.03.30.437620
https://doi.org/10.1101/2021.03.30.437620