Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Andrea Haworth"'
Autor:
Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth, Tessa Homfray
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-3 (2020)
Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiologic
Externí odkaz:
https://doaj.org/article/70c82e86fc7641de97de37ae7f537c28
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Autor:
Dimitri M. Kullmann, Mary G. Sweeney, Andrea Haworth, Richa Sud, S. McCall, Roope Männikkö, K. Suetterlin, Dipa Jayaseelan, Emma Matthews, James Burge, Stephanie Schorge, Doreen Fialho, Michael G. Hanna
Publikováno v:
Brain. 145:607-620
High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical and genetic counsel
Autor:
Robert, Kleyner, Mohammad, Arif, Elaine, Marchi, Naomi, Horowitz, Andrea, Haworth, Brian, King, Maureen, Gavin, Karen, Amble, Milen, Velinov, Gholson J, Lyon
Publikováno v:
Cold Spring Harbor molecular case studies. 8(2)
An
Autor:
Andrea Haworth, Tessa Homfray, Suzanne Drury, Rand Dubis, Meriel McEntagart, Kate Tatton Brown, Helen Savage, John Filby, Nick Lench, Eva Serra, Natalie Trump, Nayana Lahiri, Janna Kenny, Frances Elmslie, Phillip Ostrowski, Esther Dempsey, John Short, Charlene Crosby, Christine Hall, Sahar Mansour
Publikováno v:
Genetics in Medicine. 24:S226
Publikováno v:
European journal of medical genetics. 64(3)
Three sibling fetuses identified with limb shortening and thoracic narrowing at twelve weeks’ gestation on first trimester ultrasound examination are presented. The parents were non-consanguineous, Caucasian, healthy, of normal stature and had a he
Autor:
Vijaya Ramachandran, Anna Cockell, Lara Pemberton, Tessa Homfray, Andrea Haworth, Robert Barker
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-3 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-3 (2020)
Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological featur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::087fab5df04f79fb164e80aae4253e7b
https://openaccess.sgul.ac.uk/id/eprint/111712/1/document.pdf
https://openaccess.sgul.ac.uk/id/eprint/111712/1/document.pdf
Autor:
Marco Tartaglia, Eric W. Klee, Laura Reed, Daniela Melis, Brendan C. Lanpher, Katherine S. Josephs, Meriel McEntagart, Deciphering Developmental Disorders Study, Bert Callewaert, Jessica M. Tarnowski, Francesca Pantaleoni, Viviana Cordeddu, Isabella Mammi, Stefania Lo Cicero, Katherine C. Nickels, Andrea Haworth, Francesca Clementina Radio, Alessandro Bruselles, Bruno Dallapiccola, Gerarda Cappuccio, Antonio Novelli, Nicola Brunetti-Pierri, Massimo Tatti, Andrea Ciolfi, Emanuele Agolini, Emanuele Bellacchio, Mohnish Suri, Erica L. Macke
UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X-linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty aff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaab7a30255dd86989b8f828210e6042
http://hdl.handle.net/11386/4748596
http://hdl.handle.net/11386/4748596
Autor:
Maureen Gavin, Andrea Haworth, Naomi Horowitz, Robert Kleyner, Elaine Marchi, Brian A. King, Milen Velinov, Gholson J. Lyon, Arif Mohammad, Karen Amble
Publikováno v:
Molecular Case Studies. :mcs.a006137
An SLC30A9 associated cerebro renal syndrome was first reported in consanguineous Bedouin kindred by Perez et al in 2017. While the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling, nuclear regulation, as
Autor:
Andrea Haworth, Sara R. Guariglia, Ricardo Madrid, William Korosh, Gholson J. Lyon, Maureen Gavin
Publikováno v:
Cold Spring Harbor Molecular Case Studies
A 9-yr 8-mo-old right-handed female presented with a history of gait difficulties, which first became apparent at age 9 mo of age, along with slurred speech and hand tremors while holding a tray. Her past medical history was significant for global de