Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
暂无分享,去创建一个
Silvio Alessandro Di Gioia | Y. Arsenijévic | R. Roepman | C. Rivolta | P. Farinelli | M. Ueffing | F. Cremers | A. Messina | K. Boldt | M. Tsilimbaris | S. Plainis | B. Royer-Bertrand | I. El Zaoui | Katarina Cisarova | A. Moulin | Nicola Bedoni | M. Khan | S. Micheal | C. Tsika | M. Mbefo | K. Nikopoulos | Styliani V. Blazaki | Sara Balzano | U. Kjellström | S. Andreasson | Styliani V Blazaki | S. Decembrini | B. Giangreco | Shazia Micheal | Sarah Decembrini | Y. Arsenijevic
[1] Jason J. Corneveaux,et al. A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear , 2016, Hearing Research.
[2] G. Superti-Furga,et al. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia , 2015, Scientific Reports.
[3] A. Swaroop,et al. Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF , 2015, Human mutation.
[4] Neil A. Miller,et al. Alström Syndrome: Mutation Spectrum of ALMS1 , 2015, Human mutation.
[5] J. Shendure,et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity , 2015, Journal of Medical Genetics.
[6] K. Steel,et al. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants , 2015, European Journal of Human Genetics.
[7] C. Klaver,et al. Causes and consequences of inherited cone disorders , 2014, Progress in Retinal and Eye Research.
[8] Jieun Song,et al. Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling , 2014, Proceedings of the National Academy of Sciences.
[9] Silvio Alessandro Di Gioia,et al. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. , 2012, Human molecular genetics.
[10] Robert P. Carson,et al. Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules. , 2012, American journal of physiology. Renal physiology.
[11] L. Hong,et al. Identification of new altered genes in rat cochleae with noise-induced hearing loss. , 2012, Gene.
[12] Wallace F. Marshall,et al. Centrosome Loss in the Evolution of Planarians , 2012, Science.
[13] J. Naggert,et al. Alström Syndrome: Genetics and Clinical Overview , 2011, Current genomics.
[14] Emma Lundberg,et al. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods , 2011, The EMBO journal.
[15] P. Beales,et al. Ciliopathies: an expanding disease spectrum , 2011, Pediatric Nephrology.
[16] J. Corbo,et al. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. , 2010, American journal of human genetics.
[17] I. Chowers,et al. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. , 2010, American journal of human genetics.
[18] W. Berger,et al. The molecular basis of human retinal and vitreoretinal diseases , 2010, Progress in Retinal and Eye Research.
[19] Shomi S. Bhattacharya,et al. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait , 2010, Nature Reviews Genetics.
[20] C. Béroud,et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.
[21] F. Hildebrandt,et al. Nephronophthisis-associated ciliopathies. , 2007, Journal of the American Society of Nephrology : JASN.
[22] K. Mykytyn,et al. Differences in Renal Tubule Primary Cilia Length in a Mouse Model of Bardet-Biedl Syndrome , 2007, Nephron Experimental Nephrology.
[23] C. Hamel,et al. Orphanet Journal of Rare Diseases BioMed Central Review , 2006 .
[24] Hongyu Zhao,et al. A biphasic pattern of gene expression during mouse retina development , 2006, BMC Developmental Biology.
[25] J. Naggert,et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. , 2005, Archives of internal medicine.
[26] M. Mann,et al. Proteomic characterization of the human centrosome by protein correlation profiling , 2003, Nature.
[27] R. Koenig. Bardet-Biedl syndrome and Usher syndrome. , 2003, Developments in ophthalmology.
[28] C. Rivolta,et al. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. , 2000, American journal of human genetics.
[29] M. Hentze,et al. A Perfect Message RNA Surveillance and Nonsense-Mediated Decay , 1999, Cell.
[30] R. Klein,et al. Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin. The Epidemiology of Hearing Loss Study. , 1998, American journal of epidemiology.
[31] David Haussler,et al. Improved splice site detection in Genie , 1997, RECOMB '97.
[32] E. Berson. Retinitis pigmentosa. The Friedenwald Lecture. , 1993, Investigative ophthalmology & visual science.
[33] D. Wilson,et al. Retinal dystrophy in Jeune's syndrome. , 1987, Archives of ophthalmology.
[34] J. Heckenlively,et al. Visual field changes in cone-rod degenerations. , 1982, Archives of ophthalmology.
[35] L. Bard,et al. Retinal involvement in thoracic-pelvic-phalangeal dystrophy. , 1978, Archives of ophthalmology.
[36] P. Gouras,et al. Progressive cone-rod degeneration. , 1968, Archives of ophthalmology.
[37] A. D. Gioia. Targeted sequence capture and ultra high throughput sequencing for gene discovery in inherited diseases , 2013 .
[38] J. Jerger,et al. Gender affects audiometric shape in presbyacusis. , 1993, Journal of the American Academy of Audiology.