Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Arundhati, Dev Borman"'
Autor:
Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 150-155 (2023)
Abstract Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in MTFMT have been described in association with clinical presentations with Leigh syndrome, as well
Externí odkaz:
https://doaj.org/article/281228b2f22844a78b0df3c0979edf2a
Autor:
Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Publikováno v:
JIMD Reports. 64:150-155
Autor:
Gemma Susan Louise Manasseh, Sajeevika Amarakoon, Victoria Photiou, Natalia Arruti, Arundhati Dev Borman
Publikováno v:
BMJ (Clinical research ed.). 376
Autor:
Tomas S. Aleman, Patrizia Amati-Bonneau, Benoît Arveiler, Jane L. Ashworth, Isabelle Audo, Giacomo M. Bacci, Nicole Balducci, Irina Balikova, Miriam Bauwens, Piero Barboni, Johannes Birtel, Susmito Biswas, Graeme C.M. Black, Catherine Blanchet, Béatrice Bocquet, Camiel J.F. Boon, Antoine Brézin, Cyril Burin des Roziers, Emma Burkitt-Wright, Michele Callea, Michele Carbonelli, Valerio Carelli, Jasmina Cehajic-Kapetanovic, Kate E. Chandler, Aman Chandra, Jill Clayton-Smith, Johanna M. Colijn, Frauke Coppieters, Catherine A. Cukras, Avril Daly, Elfride De Baere, Julie De Zaeytijd, Arundhati Dev Borman, Hélène Dollfus, Sofia Douzgou Houge, Elizabeth C. Engle, Pascal Escher, D. Gareth Evans, Kristina Teär Fahnehjelm, Christina Fasser, Mathieu Fiore, Kaoru Fujinami, Yu Fujinami-Yokokawa, Brenda L. Gallie, Michalis Georgiou, Martin Gliem, Monika K. Grudzinska Pechhacker, Georgina Hall, Wolf M. Harmening, Robert H. Henderson, Elise Héon, Nashila Hirji, Frank G. Holz, Laryssa A. Huryn, Elizabeth A. Jones, Vasiliki Kalatzis, Arif O. Khan, Ungsoo S. Kim, Caroline C.W. Klaver, Neruban Kumaran, Chiara La Morgia, Fiona Lalloo, Eulalie Lasseaux, Helena Lee, Guy Lenaers, Eva Lenassi, Bart P. Leroy, Petra Liskova, I. Christopher Lloyd, Robert E. MacLaren, Omar A. Mahroo, Alvaro J. Mejia-Vergara, Isabelle Meunier, Michel Michaelides, Anthony T. Moore, Mariya Moosajee, Fanny Morice-Picard, Francis L. Munier, Magella M. Neveu, Erin C. O'Neil, Anna Nordenström, Neil R.A. Parry, Maria I. Patrício, Manoj V. Parulekar, Dipak Ram, Simon C. Ramsden, Johane Robitaille, Anthony G. Robson, Pierre-Raphaël Rothschild, Alfredo A. Sadun, Kaspar Schuerch, Miguel C. Seabra, Jay E. Self, Panagiotis I. Sergouniotis, Fadi Shaya, Paul A. Sieving, Ine Strubbe, Francesca Simonelli, Kent W. Small, Martin P. Snead, Karolina M. Stepien, Mays Talib, Rachel L. Taylor, Francesco Testa, Alberta A.H.J. Thiadens, Elias I. Traboulsi, Viet H. Tran, Veronika Vaclavik, Sophie Valleix, Caroline Van Cauwenbergh, Kristof Van Schil, Mary C. Whitman, Colin E. Willoughby, Kanmin Xue, Jingyan Yang, Patrick Yu-Wai-Man, Christina Zeitz, Martin Zinkernagel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::443fea97f8aa209eb7749fe6b0bb2a99
https://doi.org/10.1016/b978-0-12-813944-8.09991-1
https://doi.org/10.1016/b978-0-12-813944-8.09991-1
Autor:
Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32330 (2012)
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the preva
Externí odkaz:
https://doaj.org/article/ab358eecd7e74aa495b458512900acef
Autor:
Robert A. Sisk, Audina M. Berrocal, Gavin Arno, Aleksandra Rachitskaya, Robert B. Hufnagel, Graham E. Holder, Arundhati Dev Borman, Andrew R. Webster, Martina Suzani, Anthony T. Moore, Zubair M. Ahmed, Valentina Cipriani
Publikováno v:
Ophthalmology. 124:1004-1013
Purpose To describe a novel macular phenotype that is associated with normal visual function. Design Retrospective, observational case series. Participants Thirty-six affected individuals from 23 unrelated families. Methods This was a retrospective s
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22:231-233
The association between abusive head trauma and retinal hemorrhages is well documented. As such, ophthalmic review in suspected nonaccidental injury has become routine. However, there is a paucity of reports focusing on ocular trauma and retinal deta
Autor:
Anthony T. Moore, Arundhati Dev Borman, Andrew R. Webster, Graham E. Holder, Anthony G. Robson, Sarah Hull, Gavin Arno, Aman Chandra, Peter A.C. Tiffin, Panagiotis I. Sergouniotis
Publikováno v:
JAMA ophthalmology. 132(11)
Importance Enhanced S-cone syndrome (ESCS) forms part of the differential diagnosis of night blindness in childhood. Objective To report in detail the clinical phenotype and molecular genetic findings in a series of children with ESCS. Design, Settin
Autor:
Phillip Gorden, Yali Xue, David Russel-Jones, Rebecca J. Brown, Arundhati Dev Borman, Robert K. Semple, Elaine Cochran, Amandine Girousse, Alison Sleigh, Stephen O'Rahilly, Nora Kory, Koini Lim, Claire Adams, Tobias C. Walther, David B. Savage, Felicity Payne, Vladimir Saudek, Ann L Robbins, Inês Barroso
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 111(24)
Phosphatidylcholine (PC) is the major glycerophospholipid in eukaryotic cells and is an essential component in all cellular membranes. The biochemistry of de novo PC synthesis by the Kennedy pathway is well established, but less is known about the ph
Autor:
Andrew R. Webster, Naushin Waseem, Laura R. Pearce, Robert H. Henderson, Kerstin Nagel-Wolfrum, Donna S. Mackay, Alice E. Davidson, Arundhati Dev Borman, Anthony T. Moore, Sumedha Garg, Vincent Plagnol, Uwe Wolfrum, I. Sadaf Farooqi
Publikováno v:
Human Mutation
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9a555d860262a14f1a44ce24efcd1a
https://www.repository.cam.ac.uk/handle/1810/247054
https://www.repository.cam.ac.uk/handle/1810/247054