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Results: 7
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.
Jessica Heremans, Josselyn E Garcia-Perez, Ernest Turro, Susan M Schlenner, Ingele Casteels, Roxanne Collin, Francis de Zegher, Daniel Greene, Stephanie Humblet-Baron, Sylvie Lesage, Patrick Matthys, Christopher J Penkett, Karen Put, Kathleen Stirrups, National Institute for Health Research BioResource, Chantal Thys, Chris van Geet, Erika Van Nieuwenhove, Carine Wouters, Isabelle Meyts, Kathleen Freson, Adrian Liston
Jun 04, 2018
BACKGROUND: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia. Compound heterozygous...
B cells RNA processing Roifman syndrome platelets Adolescent B-Lymphocytes Blood Platelets Cardiomyopathies Cell Differentiation Cell Lineage Cell Proliferation Cells Cultured Child Child Preschool Humans Immunologic Deficiency Syndromes Infant Megakaryocytes Mental Retardation X-Linked Mitogen-Activated Protein Kinase 1 Osteochondrodysplasias Pedigree Precursor Cells B-Lymphoid Primary Immunodeficiency Diseases Protein Splicing RNA Small Nuclear Retinal Diseases Signal Transduction Exome Sequencing
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, Elena Schiff, Rola Ba-Abbad, Samantha Malka, Ainoa Gimenez, Michalis Georgiou, Genevieve Wright, Monica Armengol, Hannah Knight, Menachem Katz, Mariya Moosajee, Patrick Yu-Wai-Man, Anthony T Moore, Michel Michaelides, Andrew R Webster, Omar A Mahroo
Jan 04, 2021
PURPOSE: In a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigated proportions with disease attributable to causative variants in each gene. DESIGN: Retrospective study of...
Pharmaceutical Development of AAV-Based Gene Therapy Products for the Eye.
Gerard A Rodrigues, Evgenyi Shalaev, Thomas K Karami, James Cunningham, Nigel Kh Slater, Hongwen M Rivers
Jan 08, 2019
A resurgence of interest and investment in the field of gene therapy, driven in large part by advances in viral vector technology, has recently culminated in United States Food and Drug Administration approval of the first gene...
Crowdsourcing as a novel technique for retinal fundus photography classification
AIM: Crowdsourcing is the process of outsourcing numerous tasks to many untrained individuals. Our aim was to assess the performance and repeatability of crowdsourcing for the classification of retinal fundus photography....
Adult Aged Aged 80 and over Area Under Curve Biological Specimen Banks Cost-Benefit Analysis Crowdsourcing Diabetic Retinopathy Diagnostic Techniques Ophthalmological Fundus Oculi Humans Middle Aged Observer Variation Photography ROC Curve Reproducibility of Results Retinal Diseases Severity of Illness Index Surveys and Questionnaires United Kingdom
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
Tanvi Acharya, Helen V Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J Crow, Alasdair PJ Parker
May 28, 2021
coats plus Leukodystrophy stn1 Alleles ataxia Brain Neoplasms Calcinosis Central Nervous System Cysts Child DNA Mutational Analysis Genetic Association Studies Genetic Predisposition to Disease Heterozygote Humans leukoencephalopathies Magnetic Resonance Angiography Male Models Molecular Muscle Spasticity Mutation Neuroimaging Phenotype Protein Conformation Retinal Diseases Seizures Structure-Activity Relationship Telomere-Binding Proteins Tomography X-Ray Computed
Retinal Vasculometry Associations with Cardiometabolic Risk Factors in the European Prospective Investigation of Cancer-Norfolk Study.
Christopher G Owen, Alicja R Rudnicka, Roshan A Welikala, M Moazam Fraz, Sarah A Barman, Robert Luben, Shabina A Hayat, Kay-Tee Khaw, David P Strachan, Peter H Whincup, Paul J Foster
Sep 21, 2018
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.
Patrick Yu-Wai-Man, Angela Pyle, Helen Griffin, Mauro Santibanez-Korev, Rita Horvath, Patrick F Chinnery
Mar 07, 2019