标题
Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 25, Issue 11, Pages 2283-2294
出版商
Oxford University Press (OUP)
发表日期
2016-03-24
DOI
10.1093/hmg/ddw096
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。- A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy
- (2016) Arif O. Khan et al. OPHTHALMIC GENETICS
- Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome
- (2015) E. N. Kerr et al. CLINICAL GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Hypomorphic mutations inTRNT1cause retinitis pigmentosa with erythrocytic microcytosis
- (2015) Adam P. DeLuca et al. HUMAN MOLECULAR GENETICS
- Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms
- (2014) Xue Mei et al. DEVELOPMENTAL BIOLOGY
- Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome
- (2014) Kinga M. Bujakowska et al. HUMAN MOLECULAR GENETICS
- IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
- (2014) M. A. Aldahmesh et al. HUMAN MOLECULAR GENETICS
- Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel
- (2014) C. H. Lazar et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- Improved Variant Calling Accuracy by Merging Replicates in Whole-Exome Sequencing Studies
- (2014) Yanfeng Zhang et al. Biomed Research International
- Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)
- (2013) Sophie Scheidecker et al. JOURNAL OF MEDICAL GENETICS
- Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
- (2012) Vincent Marion et al. JOURNAL OF MEDICAL GENETICS
- Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
- (2011) Alejandro Estrada-Cuzcano et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
- (2011) P. R. Pretorius et al. HUMAN MOLECULAR GENETICS
- BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
- (2011) Catherine Deveault et al. HUMAN MUTATION
- Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads
- (2011) Paolo Carnevali et al. JOURNAL OF COMPUTATIONAL BIOLOGY
- Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography
- (2011) Mervyn G. Thomas et al. OPHTHALMOLOGY
- Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies
- (2011) A. Mockel et al. PROGRESS IN RETINAL AND EYE RESEARCH
- A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened
- (2011) Seongjin Seo et al. PLoS Genetics
- A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
- (2010) S. Amer Riazuddin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- (2010) Edgar A Otto et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
- (2010) S. Seo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
- (2010) Su Kyoung Kim et al. SCIENCE
- Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
- (2010) Pamela R. Pretorius et al. PLoS Genetics
- Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
- (2009) Rachaneekorn Tammachote et al. HUMAN MOLECULAR GENETICS
- Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
- (2009) Norann A. Zaghloul et al. JOURNAL OF CLINICAL INVESTIGATION
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- ISCEV Standard for full-field clinical electroretinography (2008 update)
- (2008) M. F. Marmor et al. DOCUMENTA OPHTHALMOLOGICA
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
- (2008) Carmen C Leitch et al. NATURE GENETICS
- Leber congenital amaurosis: Genes, proteins and disease mechanisms
- (2008) Anneke I. den Hollander et al. PROGRESS IN RETINAL AND EYE RESEARCH
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now