Cargando…

Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) is the most common form of inherited blindness, caused by progressive degeneration of photoreceptor cells in the retina, and affects approximately 1 in 3,000 people. Over the past decade, significant progress has been made in gene therapy for RP and related disease...

Descripción completa

Detalles Bibliográficos
Autores principales:	Paterson, Rachel L., De Roach, John N., McLaren, Terri L., Hewitt, Alex W., Hoffmann, Ling, Lamey, Tina M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413434/ https://www.ncbi.nlm.nih.gov/pubmed/22876132

Ejemplares similares

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma
por: Crowley, C., et al.
Publicado: (2014)

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
por: Ali, Shahbaz, et al.
Publicado: (2011)

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
por: Xu, Wei, et al.
Publicado: (2023)

Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
por: Sweeney, Meredith O., et al.
Publicado: (2007)

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
por: Arno, Gavin, et al.
Publicado: (2016)

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
por: Ilyas, Muhammad, et al.
Publicado: (2020)

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees
por: Al-Bdour, Muawyah, et al.
Publicado: (2020)

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
por: Karim, Noreen, et al.
Publicado: (2019)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

SLC7A14 linked to autosomal recessive retinitis pigmentosa
por: Jin, Zi-Bing, et al.
Publicado: (2014)

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
por: Yang, Zhikuan, et al.
Publicado: (2009)

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010)

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
por: ten Kate, Leo P., et al.
Publicado: (2010)

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010)

Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
por: Abbas, Seyyedha, et al.
Publicado: (2014)

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family
por: Jiao, Xiaodong, et al.
Publicado: (2019)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
por: Li, Lin, et al.
Publicado: (2017)

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
por: Moudi, Mahdiyeh, et al.
Publicado: (2022)

A Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa
por: Winkler, Paige A., et al.
Publicado: (2013)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
por: Bocquet, Béatrice, et al.
Publicado: (2013)

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice
por: van Huet, Ramon A. C., et al.
Publicado: (2015)

Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis Pigmentosa
por: Habib, Faiza, et al.
Publicado: (2023)

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
por: Aziz, Nobia, et al.
Publicado: (2023)

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants
por: McLaren, Terri L., et al.
Publicado: (2020)

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents
por: Wierenga, Klaas J., et al.
Publicado: (2013)

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
por: Nikopoulos, Konstantinos, et al.
Publicado: (2015)

The genetic profile of Leber congenital amaurosis in an Australian cohort
por: Thompson, Jennifer A., et al.
Publicado: (2017)

Mutation of SPATA7 in a family with autosomal recessive early-onset retinitis pigmentosa
por: Kannabiran, Chitra, et al.
Publicado: (2012)

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
por: Li, Lin, et al.
Publicado: (2018)

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family
por: Anjum, Iram, et al.
Publicado: (2010)

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity
por: Kleyner, Robert, et al.
Publicado: (2022)

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing
por: González-del Pozo, María, et al.
Publicado: (2011)

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
por: Srilekha, Sundaramurthy, et al.
Publicado: (2015)

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
por: Fiorentino, Alessia, et al.
Publicado: (2018)

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa
por: Takahashi, Vitor K. L., et al.
Publicado: (2019)

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population
por: Zhang, Lujia, et al.
Publicado: (2021)

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
por: Kamphans, Tom, et al.
Publicado: (2013)

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss
por: Talebi, Farah, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_1mea9k90f5243m2lif75q8m6iu