Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Angela F Brady"'
Autor:
Saraswathy Sabanathan, Deepti Gulhane, Kshitij Mankad, James Davison, Min Tsui Ong, Rahul Phadke, Robert Robinson, Michael Spiller, Emma Wakeling, Sithara Ramdas, Angela F Brady, Meena Balasubramanian, Pinki Munot
Publikováno v:
Neuromuscular Disorders. 33:50-57
Individuals with biallelic TBCK pathogenic variants present in infancy with distinctive facial features, profound hypotonia, severe intellectual impairment and epilepsy. Although rare, it may mimic other neurogenetic disorders leading to extensive in
Autor:
Alistair T. Pagnamenta, Jing Yu, Tracey A. Willis, Mona Hashim, Eleanor G. Seaby, Susan Walker, Jiaqi Xian, Emily W. Y. Cheng, Ana Lisa Taylor Tavares, Francesca Forzano, Helen Cox, Tabib Dabir, Angela F. Brady, Neeti Ghali, Santosh S. Atanur, Sarah Ennis, Diana Baralle, Jenny C. Taylor
Publikováno v:
Human Mutation.
SRRM2 encodes a splicing factor recently implicated in developmental disorders due to a statistical enrichment of de novo mutations. Using data from the 100,000 Genomes Project, four unrelated individuals with intellectual disability (ID) were identi
Autor:
Anna Lehman, Christina T. Rüsch, Angela F. Brady, Julie S. Cohen, Millan S. Patel, Rani Sachdev, Usha Kini, Elizabeth E. Palmer, Reza Maroofian, Sonal Mahida, Karen Stals, Roger L. Ladda, Yoshiko Murakami, Camille Tremblay-Laganière, Tahsin Stefan Barakat, Scott D. McLean, Fizza Akbar, Marilena Christoforou, Farah Ashrafzadeh, Melissa A. Walker, Grazia M.S. Mancini, Salman Kirmani, Kimberly Nugent, Philippe M. Campeau, Fatima Y. Ismail, Amanda Nagy, Sian Ellard, Stephanie Efthymiou, Bushra Afroze, Rebecca Macintosh, Saskia B. Wortmann, Danilo Bernardo, Rebecca Truty, Matias Wagner, Shahnaz Ibrahim, Tipu Sultan, Kristin W. Barañano, Stylianos E. Antonarakis, Yuta Maki, Thi Tuyet Mai Nguyen, Henry Houlden, Robert Steinfeld, Saadet Mercimek-Andrews, Taroh Kinoshita, Georg M. Stettner, Andrew C. Edmondson, Naila Ismayilova, Meisam Babaei, Heather M. McLaughlin, Mohammad Doosti, Ehsan Ghayoor Karimiani
Publikováno v:
Genet. Med. 23, 1873-1881 (2021)
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med
Purpose Phosphatidylinositol Glycan Anchor Biosynthesis, class G (PIGG) is an ethanolamine phosphate transferase catalyzing the modification of glycosylphosphatidylinositol (GPI). GPI serves as an anchor on the cell membrane for surface proteins call
Autor:
Munaza Ahmed, Dara Vakili, Li Shan Guillemot, Angela F. Brady, Sabrina Talukdar, Monisha Shanmugasundaram, Shevaun Ey, Sinead Whyte, Katherine S Josephs, Louise Izatt, Alice Garrett
Publikováno v:
Journal of Medical Genetics. 59:554-558
BackgroundThe most common cancer diagnosed in germline TP53 pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is rec
Autor:
Sue, Philpott, Maria, Raikou, Ranjit, Manchanda, Michelle, Lockley, Naveena, Singh, Malcolm, Scott, D Gareth, Evans, Julian, Adlard, Munaza, Ahmed, Richard, Edmondson, Emma Roisin, Woodward, Athena, Lamnisos, Janos, Balega, Angela F, Brady, Aarti, Sharma, Louise, Izatt, Anjana, Kulkarni, Vishakha, Tripathi, Joyce S, Solomons, Kevin, Hayes, Helen, Hanson, Katie, Snape, Lucy, Side, Steve, Skates, Alistair, McGuire, Adam N, Rosenthal
Publikováno v:
Journal of medical genetics.
Our study aimed to establish 'real-world' performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germlineOur study recruited 875 femaleOur study identified 8 OCs during 1277 women screen years: 2 occult OCs at
Autor:
Eamonn R. Maher, Julian Adlard, Julian Barwell, Angela F. Brady, Paul Brennan, Jackie Cook, Gillian S. Crawford, Tabib Dabir, Rosemarie Davidson, Rebecca Dyer, Rachel Harrison, Claire Forde, Dorothy Halliday, Helen Hanson, Eleanor Hay, Jenny Higgs, Mari Jones, Fiona Lalloo, Zosia Miedzybrodzka, Kai Ren Ong, Frauke Pelz, Deborah Ruddy, Katie Snape, James Whitworth, Richard N. Sandford
Funder: NIHR Cambridge Biomedical Reserach Centre VHL Alliance UK
BACKGROUND: Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is
BACKGROUND: Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06295e83d0a66ef4ce1ca1c5157b288b
https://www.repository.cam.ac.uk/handle/1810/336508
https://www.repository.cam.ac.uk/handle/1810/336508
Autor:
Glenda Sobey, Elizabeth Oakley-Hannibal, Ulrike Lepperdinger, Johannes Zschocke, Diana Johnson, Angela F. Brady, Ines Kapferer-Seebacher, Fleur S van Dijk, Neeti Ghali
Publikováno v:
Genetics in Medicine. 23:316-322
Purpose We report prospective clinical investigations of children affected with periodontal Ehlers-Danlos syndrome (pEDS). The main clinical features of pEDS in adults are early severe periodontitis, generalized lack of attached gingiva, and pretibia
Autor:
Chloe Angwin, Angela F. Brady, Marina Colombi, David J. P. Ferguson, Rebecca Pollitt, F. Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, Fleur S. van Dijk
Publikováno v:
Genes, Vol 10, Iss 10, p 762 (2019)
Two probands are reported with pathogenic and likely pathogenic COL5A1 variants (frameshift and splice site) in whom no collagen flowers have been identified with transmission electron microscopy (TEM). One proband fulfils the clinical criteria for c
Externí odkaz:
https://doaj.org/article/71d3d57925b04e0abb34c5555dee610a
Autor:
Lauren Brady, Bryan E. Hainline, Konrad Platzer, Muhammad Zafar, Corinna Powell, Darcy J. Huismann, Heather C Mefford, Afnan Alhakeem, Daniel G. MacArthur, Alison M. Muir, Trevor L Hoffman, Mark A. Tarnopolsky, François Lecoquierre, Lindsay Rhodes, Tilman Polster, Susanne Axer-Schaefer, Alice Goldenberg, Katherine Sapp, Caoimhe S. McKenna, Jasper J. van der Smagt, Tara Montgomery, Eleina M. England, Brianna K. Murray, Myriam Srour, Lia Zitano, William B. Dobyns, Grace Noh, Angela F. Brady, Lindsey Sawyer, Ingrid M. Wentzensen, Holly Dubbs, Jane Juusola, Richard Caswell, Richard H. van Jaarsveld, Danielle DeMarzo, Samantha A. Schrier Vergano, Caleb Bupp, Grace E. VanNoy, Jose E. Martinez, Melanie O’Leary, Iris M de Lange, Shane McKee, Golder N. Wilson, Rhonda E. Schnur, Meira Meltzer, Vinod Varghese, Kristin G. Monaghan, Carole Brewer, Carolyn Tysoe, Jennifer F. Gardner, Ethan M. Goldberg, Shelagh Joss, Andrea Accogli, Chiara Klöckner, Andrea L. Gropman, Pradeep C. Vasudevan
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molec
Autor:
Matthew Burnell, Faiza Gaba, Monika Sobocan, Rakshit Desai, Saskia Sanderson, Kelly Loggenberg, Sue Gessler, Lucy Side, Angela F. Brady, Huw Dorkins, Yvonne Wallis, Chris Jacobs, Rosa Legood, Uziel Beller, Ian Tomlinson, Jane Wardle, Usha Menon, Ian Jacobs, Ranjit Manchanda
Publikováno v:
BJOG : an international journal of obstetrics and gynaecologyREFERENCES. 129(12)
Ashkenazi-Jewish (AJ) population-based BRCA testing is acceptable, cost-effective and amplifies primary prevention for breastovarian cancer. However, data describing lifestyle impact are lacking. We report long-term results of population-based BRCA t