Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Miranda Split"'
Autor:
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
PREGCARE is a new strategy for families who had a child with a pathogenic de novo mutation, that efficiently identifies couples at higher recurrence risk due to parental mosaicism, while reassuring many others that their recurrence risk is negligible
Externí odkaz:
https://doaj.org/article/092225fc6615446f96c5855f1911ddee
Autor:
Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
eIF5A is critical for protein synthesis but has not yet been associated with congenital human disease. Here, the authors show that EIF5A variants cause a Mendelian disorder via reduced eIF5A-ribosome interactions and this phenotype is partially corre
Externí odkaz:
https://doaj.org/article/e484f6bf742d4dfaa468f76258820800
Autor:
Diana Baralle, Susan Walker, Ramya Srinivasan, Sarah Davies, Shelagh Joss, Jonathan Berg, Miranda Splitt, Usha Kini, Pradeep Vasudevan, John Dean, William Newman, 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)
Objectives This study aimed to explore the experiences of parents caring for children with intellectual and developmental disabilities (IDD) during the UK national lockdown in spring 2020, resulting from the COVID-19 pandemic.Design Participants were
Externí odkaz:
https://doaj.org/article/6e3c9d93947f4c879e95fa8e598ed6e2
Autor:
Indraneel Banerjee, Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N. Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Pratik Shah, Zeynep Siklar, Charles F. Verge, Michael N. Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Publikováno v:
Wellcome Open Research, Vol 4 (2020)
Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with the most com
Externí odkaz:
https://doaj.org/article/d2f10b46905b437e918ce37dd11757b4
Autor:
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals r
Externí odkaz:
https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736f
Autor:
Katharine Edgerley, Lisa Bryson, Lucy Hanington, Rachel Irving, Shelagh Joss, Anne Lampe, Isabelle Maystadt, Deborah Osio, Ruth Richardson, Miranda Split, Francis H. Sansbury, Ingrid Scurr, Helen Stewart, Alisdair McNeil, Karen Low
Publikováno v:
Edgerley, K, Bryson, L, Hanington, L, Irving, R, Joss, S, Lampe, A, Maystadt, I, Osio, D, Richardson, R, Splitt, M, Sansbury, F H, Scurr, I, Stewart, H, McNeil, A & Low, K J 2023, ' SOX5 : Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum ', American Journal of Medical Genetics, Part A, vol. 191, no. 5, pp. 1447-1458 . https://doi.org/10.1002/ajmg.a.63124
To delineate further the clinical phenotype of Lamb–Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da6de326869a93bcfd7db6c335f8e45
https://hdl.handle.net/1983/6500363b-00e6-4b51-a3f7-a2df3113c9f4
https://hdl.handle.net/1983/6500363b-00e6-4b51-a3f7-a2df3113c9f4
