Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.
暂无分享,去创建一个
Haibo Wang | Lei Xu | Yue-chen Han | Jian-feng Li | X. Bai | Fengguo Zhang | Yun Xiao | Yalin Ma
[1] R. Chai,et al. Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all‐frequencies , 2014, American journal of medical genetics. Part A.
[2] Hui Zhao,et al. Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family , 2014, PloS one.
[3] Guy Van Camp,et al. Deafness and Hereditary Hearing Loss Overview , 2014 .
[4] T. Yang,et al. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing , 2013, Orphanet Journal of Rare Diseases.
[5] X. Yi,et al. Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B. , 2012, Clinica chimica acta; international journal of clinical chemistry.
[6] Xi Lin,et al. Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities , 2012, Hearing Research.
[7] David S. Williams,et al. The many different cellular functions of MYO7A in the retina. , 2011, Biochemical Society transactions.
[8] Lifeng Pan,et al. Structure of MyTH4-FERM Domains in Myosin VIIa Tail Bound to Cargo , 2011, Science.
[9] H. Nakanishi,et al. Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1 , 2010, Journal of Human Genetics.
[10] D. Stephan,et al. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation , 2010, Clinical genetics.
[11] David S. Williams,et al. Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B. , 2010, Investigative ophthalmology & visual science.
[12] J. Sellers,et al. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function , 2008, Human mutation.
[13] J. Guan,et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects , 2008, Acta oto-laryngologica.
[14] L. Lan,et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China , 2007, Clinical genetics.
[15] PJ Willems,et al. Non‐syndromic, autosomal‐recessive deafness , 2006, Clinical genetics.
[16] W. Nance. The genetics of deafness , 2004, Mental retardation and developmental disabilities research reviews.
[17] J. W. Askew,et al. Searching for evidence of DFNB2. , 2002, American journal of medical genetics.
[18] M. Helfand,et al. Universal newborn hearing screening: summary of evidence. , 2001, JAMA.
[19] J. Sellers,et al. Unconventional myosins and the genetics of hearing loss. , 1999, American journal of medical genetics.
[20] Steve D. M. Brown,et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene , 1997, Nature Genetics.
[21] C. Petit,et al. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. , 1997, American journal of human genetics.
[22] D. Corey,et al. Unconventional Myosins in Inner-Ear Sensory Epithelia , 1997, The Journal of cell biology.
[23] Steve D. M. Brown,et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness , 1997, Nature Genetics.
[24] K. Steel,et al. Mutation analysis of the mouse myosin VIIA deafness gene. , 1997, Genes and function.
[25] C. Petit,et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene , 1997, Nature Genetics.
[26] D. Corey,et al. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. , 1996, Genomics.
[27] F. Crozet,et al. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[28] R. Sataloff. Hearing loss associated with hereditary diseases and syndromes. , 1983, Ear, nose, & throat journal.
[29] H. Rehm,et al. Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A , 2013, Molecular Biology Reports.
[30] T. Tsuru,et al. Clinical presentation of DFNA11 (MYO7A). , 2002, Advances in oto-rhino-laryngology.
[31] X. Liu. The clinical presentation of DFNB2. , 2002, Advances in oto-rhino-laryngology.