Cargando…

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhu, Julia, Stephenson, Kirk A. J., Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Fitzsimon, Susan, Farrar, G. Jane, Flitcroft, D. Ian, Keegan, David J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9033125/ https://www.ncbi.nlm.nih.gov/pubmed/35456422 http://dx.doi.org/10.3390/genes13040615

Ejemplares similares

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
por: Stephenson, Kirk A. J., et al.
Publicado: (2022)

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report
por: O’Connell, Ann, et al.
Publicado: (2022)

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations
por: Dockery, Adrian, et al.
Publicado: (2017)

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland
por: Whelan, Laura, et al.
Publicado: (2020)

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
por: Stephenson, Kirk A. J., et al.
Publicado: (2021)

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations
por: Carrigan, Matthew, et al.
Publicado: (2016)

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
por: Whelan, Laura, et al.
Publicado: (2023)

Risk of Neurotoxicity with Multiple General Anaesthetics for Examination Under Anaesthesia in Paediatric Ophthalmology – A Cause for Concern?
por: O’Connell, Ann, et al.
Publicado: (2023)

Toward an elucidation of the molecular genetics of inherited retinal degenerations
por: Farrar, G. Jane, et al.
Publicado: (2017)

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
por: Stephenson, Kirk A. J., et al.
Publicado: (2023)

The genetic and biochemical basis of trimethylaminuria in an Irish cohort
por: Doyle, Samantha, et al.
Publicado: (2019)

A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
por: Stephenson, Kirk A. J., et al.
Publicado: (2019)

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
por: Stephenson, Kirk, et al.
Publicado: (2018)

Next-Generation Sequencing Applications for Inherited Retinal Diseases
por: Dockery, Adrian, et al.
Publicado: (2021)

Maximising the potential of neuroimmunology
por: Caldwell, Lindsey J., et al.
Publicado: (2020)

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy
por: Teoh, Hooi Ling, et al.
Publicado: (2017)

Perinatal complications and maximising lamb survival in an adolescent paradigm characterised by premature delivery and low birthweight
por: Wallace, Jacqueline M., et al.
Publicado: (2021)

Genomic Characterisation of the Indigenous Irish Kerry Cattle Breed
por: Browett, Sam, et al.
Publicado: (2018)

The Special Electrophysiological Signs of Inherited Retinal Dystrophies
por: Prokofyeva, Elena, et al.
Publicado: (2012)

Maximise your mind power
por: Rees, Jim
Publicado: (2007)

Strategies for maximising energy and luminosity
por: Lamont, M
Publicado: (2000)

Collaborative pharmaceutical care in an Irish hospital: uncontrolled before-after study
por: Grimes, Tamasine C, et al.
Publicado: (2014)

Maximising the use of native seeds in restoration projects
por: Elzenga, J. T. M., et al.
Publicado: (2019)

Paediatric Electrophysiologic Studies: How and What With?
por: Sreeram, N, et al.
Publicado: (2008)

Development and Service Evaluation of an ad hoc Virtual Arthroplasty Clinic during COVID-19: Experiences from Irish National Orthopaedic Hospital
por: Murphy, B, et al.
Publicado: (2022)

Maximising survival by shifting the daily timing of activity
por: van der Vinne, Vincent, et al.
Publicado: (2019)

Maximising the impact of your work using infographics
por: Murray, I. R., et al.
Publicado: (2017)

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies
por: Haraguchi, Yulia, et al.
Publicado: (2023)

Maximising the effectiveness of routine quality assurance team visits
por: Bryson, J, et al.
Publicado: (2004)

microRNA regulatory circuits in a mouse model of inherited retinal degeneration
por: Palfi, Arpad, et al.
Publicado: (2016)

Design programmes to maximise participant engagement: a predictive study of programme and participant characteristics associated with engagement in paediatric weight management
por: Nobles, James, et al.
Publicado: (2016)

Priority areas to protect mangroves and maximise ecosystem services
por: Dabalà, Alvise, et al.
Publicado: (2023)

Molecular genetics of inherited retinal degenerations in Icelandic patients
por: Thorsteinsson, Daniel A., et al.
Publicado: (2021)

The Geometric Dual of a-maximisation for Toric Sasaki-Einstein Manifolds
por: Martelli, D., et al.
Publicado: (2005)

Maximising response rates in household telephone surveys
por: O'Toole, Joanne, et al.
Publicado: (2008)

Research impact: defining it, measuring it, maximising it, questioning it
por: Greenhalgh, Trisha
Publicado: (2014)

Is there an optimal basis to maximise optical information transfer?
por: Chen, Mingzhou, et al.
Publicado: (2016)

Maximising the resolving power of the scanning tunneling microscope
por: Jones, Lewys, et al.
Publicado: (2018)

Maximisation of heart and lung donation in a neurosurgical intensive care unit
por: Aerdts, S, et al.
Publicado: (2007)

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps
por: Duncan, Jacque L., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_m55tia6g88mcam8vb36f9fomld