标题
Partial USH2A deletions contribute to Usher syndrome in Denmark
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 23, Issue 12, Pages 1646-1651
出版商
Springer Nature
发表日期
2015-03-25
DOI
10.1038/ejhg.2015.54
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
- (2014) Hidekane Yoshimura et al. PLoS One
- Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
- (2013) Heather B Steele-Stallard et al. Orphanet Journal of Rare Diseases
- Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
- (2013) Xiu-Feng Huang et al. PLoS One
- Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
- (2012) Saima Riazuddin et al. NATURE GENETICS
- Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
- (2012) Erik G. Puffenberger et al. PLoS One
- Non-USH2A mutations in USH2 patients
- (2011) Thomas Besnard et al. HUMAN MUTATION
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
- (2011) Polona Le Quesne Stabej et al. JOURNAL OF MEDICAL GENETICS
- SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data
- (2010) Bruno Zeitouni et al. BIOINFORMATICS
- The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
- (2010) Thomas Rosenberg et al. CLINICAL GENETICS
- Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
- (2010) William J Kimberling et al. GENETICS IN MEDICINE
- PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
- (2010) Inga Ebermann et al. JOURNAL OF CLINICAL INVESTIGATION
- An Update on the Genetics of Usher Syndrome
- (2010) José M. Millán et al. Journal of Ophthalmology
- Update on Usher syndrome
- (2009) Zubin Saihan et al. CURRENT OPINION IN NEUROLOGY
- Relatedness mapping and tracts of relatedness for genome-wide data in the presence of linkage disequilibrium
- (2008) Anders Albrechtsen et al. GENETIC EPIDEMIOLOGY
- Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
- (2008) Bo Dreyer et al. HUMAN MUTATION
- MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings
- (2008) Mitch McVey et al. TRENDS IN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More