Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis-Reference-Cited by-同舟云学术

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Published:2007-05 Issue:5 Volume:28 Page:511-516
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Pomares Esther,Marfany Gemma,Brión Ma José,Carracedo Angel,Gonzàlez-Duarte Roser

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Haploview: analysis and visualization of LD and haplotype maps;Barrett;Bioinformatics,2005

2. The structure of haplotype blocks in the human genome;Gabriel;Science,2002

3. Strategies for the Genetic Analysis of Autosomal Recessive Retinitis Pigmentosa in Spanish Families

4. Retinitis pigmentosa: genes, proteins and prospects;Hims;Dev Ophthalmol,2003

5. Light in retinitis pigmentosa;Kennan;Trends Genet,2005

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL;Genes;2020-12-12

2. DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reduction;Human Mutation;2019-11-25

3. Molecular characterization of AIPL1 gene region in the Iranian population: application of novel informative haplotypes and detection of mutational founder effect;Genes & Genomics;2017-02-06

4. Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies;PLoS ONE;2014-02-07

5. Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis;PLoS ONE;2013-06-14