Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 23, Issue 21, Pages 5827-5837
Publisher
Oxford University Press (OUP)
Online
2014-06-05
DOI
10.1093/hmg/ddu276
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Distilling Pathophysiology from Complex Disease Genetics
- (2013) Aravinda Chakravarti et al. CELL
- Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration
- (2013) Johanna M Seddon et al. NATURE GENETICS
- A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
- (2013) Hannes Helgason et al. NATURE GENETICS
- A functional variant in the CFI gene confers a high risk of age-related macular degeneration
- (2013) Johannes P H van de Ven et al. NATURE GENETICS
- Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
- (2013) Xiaowei Zhan et al. NATURE GENETICS
- Seven new loci associated with age-related macular degeneration
- (2013) Lars G Fritsche et al. NATURE GENETICS
- Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics
- (2012) Michael B. Gorin MOLECULAR ASPECTS OF MEDICINE
- Genetic Studies of Age-related Macular Degeneration
- (2012) Rinki Ratna Priya et al. OPHTHALMOLOGY
- Spatial Distribution of the Pathways of Cholesterol Homeostasis in Human Retina
- (2012) Wenchao Zheng et al. PLoS One
- The mystery of missing heritability: Genetic interactions create phantom heritability
- (2012) O. Zuk et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The oil spill in ageing Bruch membrane
- (2011) C. A. Curcio et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
- (2011) Venkata R.M. Chavali et al. HUMAN MOLECULAR GENETICS
- A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
- (2011) Soumya Raychaudhuri et al. NATURE GENETICS
- LocusZoom: regional visualization of genome-wide association scan results
- (2010) R. J. Pruim et al. BIOINFORMATICS
- METAL: fast and efficient meta-analysis of genomewide association scans
- (2010) C. J. Willer et al. BIOINFORMATICS
- Uncovering the roles of rare variants in common disease through whole-genome sequencing
- (2010) Elizabeth T. Cirulli et al. NATURE REVIEWS GENETICS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
- (2010) B. M. Neale et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
- (2010) W. Chen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Generalized Family-Based Association Test for Dichotomous Traits
- (2009) Wei-Min Chen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration
- (2009) Anand Swaroop et al. Annual Review of Genomics and Human Genetics
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Biogenesis and function of fibrillin assemblies
- (2009) Francesco Ramirez et al. CELL AND TISSUE RESEARCH
- Aging, age-related macular degeneration, and the response-to-retention of apolipoprotein B-containing lipoproteins
- (2009) Christine A. Curcio et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature
- (2008) Bert L. Callewaert et al. HUMAN MUTATION
- Age-Related Macular Degeneration
- (2008) Rama D. Jager et al. NEW ENGLAND JOURNAL OF MEDICINE
- The SWISS-MODEL Repository and associated resources
- (2008) F. Kiefer et al. NUCLEIC ACIDS RESEARCH
Publish 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 MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search