about
Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing lossThe Genetics of Deafness in Domestic AnimalsUtilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi ArabiaA point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).Assembly of the cochlear gap junction macromolecular complex requires connexin 26.Expression of epithelial calcium transport system in rat cochlea and vestibular labyrinth.Rare variants create synthetic genome-wide associationsInner ear cell therapy targeting hereditary deafness by activation of stem cell homing factorsIdentification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy.Current status and prospects of gene therapy for the inner earNoncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.Probing the Xenopus laevis inner ear transcriptome for biological function.Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.The impact of patents on the development of genome-based clinical diagnostics: an analysis of case studies.Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.Functional evaluation of GJB2 variants in nonsyndromic hearing loss.Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsScreening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyDeformation of the Outer Hair Cells and the Accumulation of Caveolin-2 in Connexin 26 Deficient MiceHaplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of RussiaConnexins, pannexins, innexins: novel roles of "hemi-channels"XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptomsUnraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct SyndromeKCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing lossGenetics of congenital hearing impairment: a clinical approach.Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.Deafness genes in Israel: implications for diagnostics in the clinic.In Vitro Models of GJB2-Related Hearing Loss Recapitulate Ca2+ Transients via a Gap Junction Characteristic of Developing Cochlea.Connexin-26 mutations in deafness and skin disease.Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?Connexins: key mediators of endocrine function.Genotype phenotype correlations for hearing impairment: approaches to management.
P2860
Q21089994-4082161C-24FA-4DD5-B7BC-61F7A1D90190Q24670142-BCDFA0D7-112D-4C83-88CB-A279F5DE8F3BQ26776085-4EBFB837-15C7-48B4-8033-B2903391E9CDQ28070215-8101DF93-3091-483C-B664-CC15B868BF43Q28505086-D48C1C41-5343-4939-8B5B-4D46DF372229Q28507910-42651B8A-1BF3-4D19-AB43-DC9A091BB04FQ28582690-CE5E67A6-72AA-4E40-8CC8-FC7E575B8AD7Q29614955-ADF1E266-C266-4C5F-9C95-1E6EE9BA2D74Q30418975-9A19C1A3-88AD-4DD7-A90C-41678F78C1C2Q30423200-7019EDD8-F76C-4797-AE1D-646F765611ADQ30451780-48179EC0-2E90-4DEE-B9AB-BCD570A4F5A1Q30461494-BFEB33FA-B581-4DF4-9592-82BBE22E8FC2Q30484106-DB2C02A5-5F77-4249-AB2D-D93F9F61FD09Q30530777-E5DCAA7C-2851-4870-9ED2-0A27734A3BA5Q33855580-951BAF67-A5A1-4B83-AAA8-D097A61573DAQ33865988-090130D3-AB5A-4C44-846D-9BB3A3FCBD43Q34261785-94355BC3-353A-4B60-8229-B528C1D9CCADQ34560844-E3A157DA-A873-43CC-82B1-64ACD273D1D4Q34590572-ABC6BCD0-86C7-4C43-8DF2-B7051AE6F8E2Q34622800-AF3252CD-14FC-4BD7-95C3-F9808797FA34Q35016960-99B0C0D4-03DF-44C2-85FD-694D68514B15Q35045712-853D9466-C145-4930-BF04-8D0A4CC64A03Q35544452-A58FD76B-37A4-4BA0-8505-28C56FAD9F91Q35785798-8B0E2851-B0EB-4427-B6CD-FA194C3AE46EQ35817242-9FF17A27-7BEB-4B70-8686-6B902763941CQ35944490-CAB644D1-8565-4335-BB49-9364E3A9EC8DQ37130086-3E96E19E-4DB6-4E6A-B5D1-41EFED7F1096Q37198847-A843CF48-9FB4-4A8E-B8EF-005A9DE5396CQ37206548-753D6F6E-DE8A-4ECD-A206-FFFBA29AC744Q37226675-C336DC18-9AB7-400D-BA26-A6485960FED5Q37243206-E7B98539-0B62-445D-870A-11C41914CC7CQ37271361-F0B69977-00C5-4970-B518-3C68E9778E02Q37280853-79556FE5-8D94-42BF-8579-407BE852F161Q37380116-5DAE0034-B116-461A-B87F-1690CE257D62Q37458145-5F45C492-0BC6-475A-8BAF-F28700815933Q37510417-E7328B73-A386-44FD-99D9-E595A0D9A558Q37638797-0F8129D6-18FD-4BCC-BB6B-7EE5A4BDC36CQ37714312-191B9056-3D65-4237-B4DC-BE42B13B8C90Q37947566-C8727D99-E836-470E-A7AB-EAA6A783522CQ38189123-DAB062C3-B6A8-486F-BD63-B55A47C5A1EB
P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
Non-syndromic, autosomal-recessive deafness.
@ast
Non-syndromic, autosomal-recessive deafness.
@en
type
label
Non-syndromic, autosomal-recessive deafness.
@ast
Non-syndromic, autosomal-recessive deafness.
@en
prefLabel
Non-syndromic, autosomal-recessive deafness.
@ast
Non-syndromic, autosomal-recessive deafness.
@en
P1433
P1476
Non-syndromic, autosomal-recessive deafness.
@en
P2093
M B Petersen
P J Willems
P2860
P304
P356
10.1111/J.1399-0004.2006.00613.X
P577
2006-05-01T00:00:00Z