Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Ngozi Oluonye"'
Autor:
Nancy Aychoua, Elena Schiff, Samantha Malka, Vijay K Tailor, Hwei Wuen Chan, Ngozi Oluonye, Maria Theodorou, Mariya Moosajee
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic challenge
Externí odkaz:
https://doaj.org/article/c85d27dc85ec4ad68ea38909953a43df
Autor:
Jane C Sowden, Corné J Kros, Tony Sirimanna, Waheeda Pagarkar, Ngozi Oluonye, Robert H Henderson
Publikováno v:
BMJ Paediatrics Open, Vol 4, Iss 1 (2020)
Norrie disease (ND) is a rare, X-linked condition of visual and auditory impairment, often presenting with additional neurological features and developmental delays of varying severity. While all affected patients are born blind, or lose their vision
Externí odkaz:
https://doaj.org/article/ffab2a420720471f9a63a6553455c726
Publikováno v:
Developmental Medicine & Child Neurology. 64:618-624
AIM To investigate whether pattern reversal visual evoked potentials (PRVEPs) could predict future visual acuity in infants with cerebral visual impairment (CVI). METHOD Fifty-five children (27 males, 28 females) with severe CVI seen in the ophthalmo
Autor:
Rachel L Knowles, Ameenat Lola Solebo, Mariana Autran Sampaio, Charlotte Rebecca Brown, Jenefer Sargent, Ngozi Oluonye, Jugnoo Rahi
Publikováno v:
Archives of disease in childhood.
ObjectiveTo determine the incidence, causes and neurodevelopmental impact of severe microcephaly (head circumference DesignBinational active paediatric surveillance study undertaken in 2017–2018 to identify and characterise new diagnoses of severe
Autor:
Philippa Harding, Sri Gore, Samantha Malka, Jayashree Rajkumar, Ngozi Oluonye, Mariya Moosajee
Publikováno v:
The British journal of ophthalmology.
Background/aimsMicrophthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of childhood blindness worldwide. Clear understanding of MAC ae
Autor:
Lucinda J Teoh, Ameenat Lola Solebo, Jugnoo S Rahi, Joe Abbott, Wajda Abdullah, Gill Adams, Louise Allen, Christopher Anderson, Karen Ansell, Samira Anwar, Isabel Ash, Jane Ashworth, Sher Aslam, Majunath Astagi, Colin Ball, Rajesh Balu, Victoria Barrett, Zahabiyah Bassi, Adam Bates, Dushyant Batra, Sarah Bell, Linda Belmour, James Benzimra, Ginny Birrell, Susmito Biswas, Andrew Blaikie, Michael Blundell, Kate Bolton, Ewoud Bos, Pamela Bowen, Richard Bowman, Natalie Boyle, John Bradbury, Maria Bredow, Marsel Bregu, Nicholas Brennan, Rosie Brennan, Paul Brittain, Charles Buchanan, Catey Bunce, Howard Bunting, Priscilla Burgess, Cathie Burke, Alexandra Kate Bush, Jeremy Butcher, Lucilla Butler, Clare Cane, Cathryn Chadwick, Ruth Charlton, Anne-Marie Childs, Jessy Choi, Vivi Choleva, Amanda Churchill, Michael Clarke, Peter Clayton, Luke Clifford, Alan Connor, Rachel Cox, Lyn Cresswell, Annegret Dahlmann-Noor, Angela D'Amore, Mehul Dattani, Fiona Dean, Anita Devlin, Luna Dhir, Cora Doherty, Suzanne Dorey, Fiona Drimmie, Tina Duke, Gordon Dutton, Fiona Eaton, Megan Eaton, Danielle Eckersley, Clive Edelsten, Rachel Elderkin, Julia Ennis, Julia Escardo-Paton, Ziad Estephen, Onajite Etuwewe, Anthony Evans, Adjoa Ezekwe, Jenny Fairfield, Kevin Falzon, Allison Ferguson, Brian Fleck, Mary Gainsborough, Alexandra Galloway, Naomi Gerson-Sofer, Caspar Gibbon, Patricia Gibson, Kevin Goss, Katherine Graham-Evans, Judith Gray, Anna Gregory, Arun Gulati, Deniz Gurtin-Zorkun, Emma Guy, Diab Haddad, Helen Haggerty, Paul Haigh, Julia Hale, Samer Hamada, Joanne Hancox, Kerry Hanna, Sian Harris, Christine Harrison, Phillip Harvey, Sophie Headland, Dominic Heath, Paul Heaton, Robert Henderson, Melanie Hingorani, Zoe Hirst, Claire Hogg, Wolfgang Hogler, Roger Holden, Janice Hoole, Karen Horridge, Delyth Howard, Rachel Howells, Vanessa Irvine, Clare Irving, Nicola Johnson, Ian Johnston, Alice Jollands, David Jones, Annie Joseph, Archana Joshi, Pugazhvendan Kandaswamy, Charles Kattakayam, Joseph Keenan, Anne Kelly, James Kersey, Awais Khan, Peng Khaw, Tina Kipioti, Sadia Kiran, Lesley Kneen, Ajay Kotagiri, Richa Kulshrestha, Rosemary Lambley, Tim Lavy, Joanna Lawson, Vicki Lee, Jane Leitch, Julie Lennon, Gabi Lipshen, Chris Lloyd, John Loftus, Tom Lomas, Vernon Long, Jane Mackinnon, Mary MacRae, Usman Mahmood, Anna Maino, Sarah Maling, David Mansfield, Elizabeth Marder, Richard Markham, Jane Marr, Catherine Marsh, Anna Maw, Eleanor McCartney, Helen McCullagh, Anna McDonald, Derek McPhee, Lawrence Miall, Shila Mistry, Benjamin Moate, Meyyammai Mohan, Helen Moore, Will Moore, Nicola Morgan, Claire Morton, Alan Mulvihill, Ranjit Nair, Bill Newman, Christiane Nitsch, Katy O'Connell, Ngozi Oluonye, Vittaldas Pai, Helen Palmer, Maria Papadopoulos, Shelagh Parkinson, Bina Parmar, Manoj Parulekar, Madhavi Parvathareddy, Dipesh Patel, Himanshu Patel, Kamal Patel, Philippa Pennefather, Flaudia Petrone, Marcus Pierrepoint, Rachel Pilling, Sally Pollard, Renata Puertas, Karen Pysden, Anthony Quinn, Philip Quinn, Diyaa Rachdan, Jyoti Raina, Saul Rajak, Laura Ramm, Catherine Rands, Tekki Rao, Mary Ray, Ashwin Reddy, Sheilla Reilly, Maralla Rekha, Greg Richardson, Andrew Riordan, Nerys Roberts, Helen Robertson, Gillian Robinson, Neil Rogers, Shakir Saeed, Caroline Salmon, Jenefer Sargent, Nagini Sarvananthan, Conrad Schmoll, James Self, P Sellar, Elaine Service, Ayad Shafiq, Shilpa Shah, Vinod Sharma, Jemima Sharp, Julia Shaw, Manjula Shenoy, Tamsin Sleep, Elisa Smit, Katherine Smyth, Lynne Speedwell, Katherine Spowart, P Standring, Paulo Stanga, Alison Stanley, Alan Stanton, David Steel, John Stephen, Catherine Stewart, Jessica Street, Sally Stucke, Shona Sutherland, Katya Tambe, Anamika Tandon, Alison Tappin, Kate Taylor, Robert Taylor, Katherine Teasdale, Maria Theodorou, Gareth Thomas, Megan Thomas, Paula Thomas, Dorothy Thompson, Stephen Thomson, Indrajit Thopte, Peter Tiffin, Angela Tillett, Heidi Traunecker, Maria Tsimpida, Vivienne Van Someren, Udupa Venkatesh, Zoe Vermaak, Michael Vincent, David Walker, Simon Walker, Deidre Walsh, Bronwyn Walters, Martin Ward Platt, Louise Watson, Patrick Watts, Siobhan West, Stephanie West, Cathy White, Joy White, Gabriel Whitlingum, Cathy Williams, Sophie Wilne, Janice Wilson, Chien Wong, Tamsin Woodbridge, Paul Wright, Martha Wyles, Philip Wylie
Publikováno v:
The Lancet Child & Adolescent Health. 5:190-200
Summary Background The WHO VISION 2020 global initiative against blindness, launched in 2000, prioritised childhood visual disability by aiming to end avoidable childhood blindness by 2020. However, progress has been hampered by the global paucity of
Autor:
Genevieve A. Wright, Emanuel R. de Carvalho, Anthony G. Robson, Ambreen Kalhoro, Nikolas Pontikos, Magella M. Neveu, Ngozi Oluonye, Naser Ali, Richard G. Weleber, Michel Michaelides, Michalis Georgiou, SM Kleine Holthaus
Publikováno v:
Ophthalmology. Retina
Purpose To characterize the retinal phenotype of juvenile neuronal ceroid lipofuscinosis (JNCL), highlight delayed and mistaken diagnosis, and propose an algorithm for early identification. Design Retrospective case series. Subjects Eight children (5
Autor:
Antonio Martinez-Monseny, Maddy Ashwin Reddy, Alice Gardham, Marios Kaliakatsos, L. Jeanjean, Elisabeth Rosser, Sabine Defoort, Mariona Vidal-Santacana, Nadia Giordano, Grant T. Liu, Ngozi Oluonye, Matteo Caleo, Sung Jun Ahn, Ungsoo Samuel Kim, Jinu Han, Isabelle Meunier, Michele Bertacchi, Richard Bowman, Emma Bedoukian, Gavin Arno, Patrick Yu-Wai-Man, Majida Charif, Guy Lenaers, Neringa Jurkute, Patrizia Amati-Bonneau, Andrew R. Webster, Catherine Vincent-Delorme, James Acheson, Elaine Clark, Chloé Dominici, Indran Davagnanam, Adam M Kruszewski, Graham E. Holder, Anthony G. Robson, Emma Wakeling, Robert A. Avery, Nikolas Pontikos, Chiara Tocco, Cedric Gaggioli, Michèle Studer
Publikováno v:
Brain Communications
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cel
Autor:
Jenefer Sargent, Ngozi Oluonye
Publikováno v:
Paediatrics and Child Health. 28:379-383
Visual impairment is generally categorised, along with hearing impairment, as a sensory disorder. Vision is arguably the dominant human input sense, and supports the development of cognitive, language and social skills as well as early emotional bond
Autor:
Tony Sirimanna, Ngozi Oluonye, Jane C. Sowden, Corné J. Kros, Waheeda Pagarkar, Robert H. Henderson
Publikováno v:
BMJ Paediatrics Open, Vol 4, Iss 1 (2020)
BMJ Paediatrics Open
BMJ Paediatrics Open
Norrie disease (ND) is a rare, X-linked condition of visual and auditory impairment, often presenting with additional neurological features and developmental delays of varying severity. While all affected patients are born blind, or lose their vision