标题
Photoreceptor Cilia and Retinal Ciliopathies
作者
关键词
-
出版物
Cold Spring Harbor Perspectives in Biology
Volume 9, Issue 10, Pages a028274
出版商
Cold Spring Harbor Laboratory
发表日期
2017-03-14
DOI
10.1101/cshperspect.a028274
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 homozygous nonsense variant inIFT52is associated with a human skeletal ciliopathy
- (2016) K. M. Girisha et al. CLINICAL GENETICS
- Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)
- (2016) Elise Heon et al. HUMAN MOLECULAR GENETICS
- Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
- (2016) Anna M. Rose et al. Scientific Reports
- Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
- (2015) Caroline Alby et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in human IFT140 cause non-syndromic retinal degeneration
- (2015) Mingchu Xu et al. HUMAN GENETICS
- Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration
- (2015) B. M. Kevany et al. HUMAN MOLECULAR GENETICS
- mTORC2 tips the balance in cell survival
- (2015) Caitlin Sedwick JOURNAL OF CELL BIOLOGY
- Discs of mammalian rod photoreceptors form through the membrane evagination mechanism
- (2015) Jin-Dong Ding et al. JOURNAL OF CELL BIOLOGY
- Photoreceptors at a glance
- (2015) R. S. Molday et al. JOURNAL OF CELL SCIENCE
- A polycystin-centric view of cyst formation and disease: the polycystins revisited
- (2015) Albert C.M. Ong et al. KIDNEY INTERNATIONAL
- Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
- (2015) Albane A. Bizet et al. Nature Communications
- Association Between Missense Mutations in theBBS2Gene and Nonsyndromic Retinitis Pigmentosa
- (2015) Elia Shevach et al. JAMA Ophthalmology
- Photoreceptor Sensory Cilium: Traversing the Ciliary Gate
- (2015) Hemant Khanna Cells
- Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
- (2014) Anna Lindstrand et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy
- (2014) Said El Shamieh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
- (2014) Ranad Shaheen 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
- Genetic Background and Light-Dependent Progression of Photoreceptor Cell Degeneration in Prominin-1 Knockout Mice
- (2014) M. Dellett et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
- (2014) Samer Khateb et al. JOURNAL OF MEDICAL GENETICS
- A draft map of the human proteome
- (2014) Min-Sik Kim et al. NATURE
- Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
- (2014) Marta Romani et al. Orphanet Journal of Rare Diseases
- Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia
- (2014) Corey L. Williams et al. Nature Communications
- This Month in The Journal
- (2013) Sarah Ratzel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
- (2013) Susanne Roosing et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
- (2013) Aideen M. McInerney-Leo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
- (2013) Miriam Schmidts et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
- (2013) Karina Tuz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans
- (2013) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome
- (2013) R G Coussa et al. CLINICAL GENETICS
- Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
- (2013) I. Filges et al. CLINICAL GENETICS
- Compound Heterozygosity of the Functionally Null Cdh23v-ngt and Hypomorphic Cdh23ahl Alleles Leads to Early-onset Progressive Hearing Loss in Mice
- (2013) Yuki Miyasaka et al. EXPERIMENTAL ANIMALS
- Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease
- (2013) Miriam Schmidts et al. HUMAN MUTATION
- A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
- (2013) Sophie Thomas et al. HUMAN MUTATION
- Mutations inTMEM231cause Meckel–Gruber syndrome
- (2013) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- 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
- Primary cilia in neurodevelopmental disorders
- (2013) Enza Maria Valente et al. Nature Reviews Neurology
- Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
- (2013) K. M. Nishiguchi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Protein sorting, targeting and trafficking in photoreceptor cells
- (2013) Jillian N. Pearring et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Molecular complexes that direct rhodopsin transport to primary cilia
- (2013) Jing Wang et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
- (2012) Myriam Srour et al. AMERICAN JOURNAL OF HUMAN GENETICS
- TCTN3 Mutations Cause Mohr-Majewski Syndrome
- (2012) Sophie Thomas et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
- (2012) Isabelle Perrault et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ciliary disorder of the skeleton
- (2012) Celine Huber et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
- (2012) Alejandro Estrada-Cuzcano et al. ARCHIVES OF OPHTHALMOLOGY
- Three-Dimensional Architecture of the Rod Sensory Cilium and Its Disruption in Retinal Neurodegeneration
- (2012) Jared C. Gilliam et al. CELL
- Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
- (2012) Moumita Chaki et al. CELL
- In search of triallelism in Bardet–Biedl syndrome
- (2012) Leen Abu-Safieh et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Non-syndromic retinal ciliopathies: translating gene discovery into therapy
- (2012) A. Estrada-Cuzcano et al. HUMAN MOLECULAR GENETICS
- Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
- (2012) T. R. Webb et al. HUMAN MOLECULAR GENETICS
- RP1L1Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy
- (2012) Alice E. Davidson et al. HUMAN MUTATION
- Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice
- (2012) Iman Sahly et al. JOURNAL OF CELL BIOLOGY
- 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 inTMEM231cause Joubert syndrome in French Canadians
- (2012) Myriam Srour et al. JOURNAL OF MEDICAL GENETICS
- 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
- CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
- (2012) Ji Eun Lee et al. NATURE GENETICS
- Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
- (2012) Erik G. Puffenberger et al. PLoS One
- Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
- (2012) J. H. Lee et al. SCIENCE
- Senior–Løken syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis
- (2012) C.C. Ronquillo et al. VISION RESEARCH
- Transport and localization of signaling proteins in ciliated cells
- (2012) Mehdi Najafi et al. VISION RESEARCH
- Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
- (2011) Pleasantine Mill et al. AMERICAN JOURNAL OF HUMAN GENETICS
- TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
- (2011) Lijia Huang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
- (2011) Christian Thiel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
- (2011) Rıza Köksal Özgül et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
- (2011) William E. Dowdle et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
- (2011) Cecilie Bredrup et al. AMERICAN JOURNAL OF HUMAN 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
- Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
- (2011) Maha S. Zaki et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome
- (2011) Edwin M. Stone ARCHIVES OF OPHTHALMOLOGY
- Usher syndrome (sensorineural deafness and retinitis pigmentosa)
- (2011) Crystel Bonnet et al. CURRENT OPINION IN NEUROLOGY
- Architecture and function of IFT complex proteins in ciliogenesis
- (2011) Michael Taschner et al. DIFFERENTIATION
- B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
- (2011) Katharina Hopp et al. HUMAN MOLECULAR GENETICS
- A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
- (2011) Ranad Shaheen et al. HUMAN MUTATION
- CRB1mutations in inherited retinal dystrophies
- (2011) Kinga Bujakowska et al. HUMAN MUTATION
- Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
- (2011) Claudia Dafinger et al. JOURNAL OF CLINICAL INVESTIGATION
- C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
- (2011) H. H. Arts et al. JOURNAL OF MEDICAL GENETICS
- TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- (2011) Erica E Davis et al. NATURE GENETICS
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- (2011) Francesc R Garcia-Gonzalo et al. NATURE GENETICS
- Ciliopathies: an expanding disease spectrum
- (2011) Aoife M. Waters et al. PEDIATRIC NEPHROLOGY
- Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations
- (2011) Abigail T. Fahim et al. PLoS One
- Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
- (2011) B. A. Tucker et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies
- (2011) A. Mockel et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy
- (2010) Masakazu Akahori et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
- (2010) Christian Gilissen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
- (2010) Simon Edvardson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene
- (2010) Joanna Walczak-Sztulpa et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase
- (2010) Liron Dvir et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa
- (2010) Dikla Bandah-Rozenfeld et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa
- (2010) Thomas Langmann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
- (2010) Darryl Y. Nishimura et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
- (2010) Rob W.J. Collin et al. AMERICAN JOURNAL OF HUMAN 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
- TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
- (2010) Christina F. Chakarova et al. HUMAN MOLECULAR GENETICS
- Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
- (2010) Frauke Coppieters et al. HUMAN MUTATION
- PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
- (2010) Inga Ebermann et al. JOURNAL OF CLINICAL INVESTIGATION
- Diffusion of a soluble protein, photoactivatable GFP, through a sensory cilium
- (2010) Peter D. Calvert et al. JOURNAL OF GENERAL PHYSIOLOGY
- Genetics and pathological mechanisms of Usher syndrome
- (2010) Denise Yan et al. JOURNAL OF HUMAN GENETICS
- Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
- (2010) E. Ostergaard et al. JOURNAL OF MEDICAL GENETICS
- The R109H Variant of Fascin-2, a Developmentally Regulated Actin Crosslinker in Hair-Cell Stereocilia, Underlies Early-Onset Hearing Loss of DBA/2J Mice
- (2010) J.-B. Shin et al. JOURNAL OF NEUROSCIENCE
- Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects
- (2010) Clare V. Logan et al. MOLECULAR NEUROBIOLOGY
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- (2010) Enza Maria Valente et al. NATURE GENETICS
- AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
- (2010) Carrie M Louie et al. NATURE GENETICS
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- (2010) Edgar A Otto et al. NATURE GENETICS
- The primary cilium: a signalling centre during vertebrate development
- (2010) Sarah C. Goetz et al. NATURE REVIEWS GENETICS
- Polycystins and renovascular mechanosensory transduction
- (2010) Amanda Patel et al. Nature Reviews Nephrology
- The molecular basis of human retinal and vitreoretinal diseases
- (2010) Wolfgang Berger et al. PROGRESS IN RETINAL AND EYE RESEARCH
- 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
- OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
- (2009) Karlien L.M. Coene et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
- (2009) Hui Wang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
- (2009) Alberta A.H.J. Thiadens et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
- (2009) Nathalie Dagoneau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Development and disease of the photoreceptor cilium
- (2009) V Ramamurthy et al. CLINICAL GENETICS
- What drives cell morphogenesis: A look inside the vertebrate photoreceptor
- (2009) Breandán Kennedy et al. DEVELOPMENTAL DYNAMICS
- Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors
- (2009) Marisa Zallocchi et al. HEARING RESEARCH
- Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions
- (2009) Daniel C. Chung et al. JOURNAL OF AAPOS
- Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
- (2009) T. Yamashita et al. JOURNAL OF NEUROSCIENCE
- A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
- (2009) Hemant Khanna et al. NATURE GENETICS
- INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
- (2009) Monique Jacoby et al. NATURE GENETICS
- Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
- (2009) Stephanie L Bielas et al. NATURE GENETICS
- CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
- (2008) Abdul Noor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia
- (2008) Carsten Bergmann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
- (2008) Vincent Cantagrel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
- (2008) Nicholas T. Gorden et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
- (2008) Jonna Tallila et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
- (2008) Rob W.J. Collin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa
- (2008) John H. Fingert ARCHIVES OF OPHTHALMOLOGY
- Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
- (2008) Zhenglin Yang et al. JOURNAL OF CLINICAL INVESTIGATION
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
- (2008) Carmen C Leitch et al. NATURE GENETICS
- EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
- (2008) Mai M Abd El-Aziz 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
- Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome
- (2007) Valeska Frank et al. HUMAN MUTATION
- Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
- (2007) David S. Williams VISION RESEARCH
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started