Found: 78
Select item for more details and to access through your institution.
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
- Published in:
- Journal of Gene Medicine, 2016, v. 18, n. 11/12, p. 353, doi. 10.1002/jgm.2935
- By:
- Publication type:
- Article
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
- Published in:
- Human Genetics, 2009, v. 125, n. 1, p. 53, doi. 10.1007/s00439-008-0602-9
- By:
- Publication type:
- Article
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 292, doi. 10.1007/s00439-004-1227-2
- By:
- Publication type:
- Article
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.
- Published in:
- Human Genetics, 2003, v. 114, n. 1, p. 44, doi. 10.1007/s00439-003-1018-1
- By:
- Publication type:
- Article
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 26, doi. 10.1007/s00439-002-0736-0
- By:
- Publication type:
- Article
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
- Published in:
- Human Genetics, 2001, v. 108, n. 5, p. 385, doi. 10.1007/s004390100507
- By:
- Publication type:
- Article
Using surgical microscope for sclera buckling and transscleral cryopexy: an alternative procedure of treatment for rhegmatogenous retinal detachment.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Using Surgical Microscope for Sclera Buckling and Transscleral Cryopexy: An Alternative Procedure of Treatment for Rhegmatogenous Retinal Detachment.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/364961
- By:
- Publication type:
- Article
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00556-7
- By:
- Publication type:
- Article
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 12, p. 732, doi. 10.1038/jhg.2009.107
- By:
- Publication type:
- Article
The genetic bases for non-syndromic hearing loss among Chinese.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 3, p. 131, doi. 10.1038/jhg.2009.4
- By:
- Publication type:
- Article
Refinement of the DFNA41 locus and candidate genes analysis.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 10, p. 516, doi. 10.1007/s10038-005-0286-0
- By:
- Publication type:
- Article
A missense mutation in DCDC2 causeshuman recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2482, doi. 10.1093/hmg/ddv009
- By:
- Publication type:
- Article
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2482, doi. 10.1093/hmg/ddv009
- By:
- Publication type:
- Article
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 15, p. 2405, doi. 10.1093/hmg/ddn140
- By:
- Publication type:
- Article
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 1, p. 103, doi. 10.1093/hmg/ddi010
- By:
- Publication type:
- Article
Inhibitory effects of osteoprotegerin on osteoclast formation and function under serum-free conditions.
- Published in:
- Journal of Veterinary Science, 2014, v. 15, n. 2, p. 405, doi. 10.4142/jvs.2013.14.4.405
- By:
- Publication type:
- Article
Regulation of matrix metalloproteinase-9 protein expression by 1α, 25-(OH)<sub>2</sub>D<sub>3</sub> during osteoclast differentiation.
- Published in:
- Journal of Veterinary Science, 2014, v. 15, n. 1, p. 133, doi. 10.4142/jvs.2014.15.1.133
- By:
- Publication type:
- Article
Inhibitory effects of osteoprotegerin on osteoclast formation and function under serum-free conditions.
- Published in:
- Journal of Veterinary Science, 2013, v. 14, n. 4, p. 405, doi. 10.4142/jvs.2013.14.4.405
- By:
- Publication type:
- Article
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 274, doi. 10.3390/genes12020274
- By:
- Publication type:
- Article
Transcriptomic Analyses of Inner Ear Sensory Epithelia in Zebrafish.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 527, doi. 10.1002/ar.24331
- By:
- Publication type:
- Article
Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 594, doi. 10.1002/ar.24330
- By:
- Publication type:
- Article
The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 556, doi. 10.1002/ar.24221
- By:
- Publication type:
- Article
Zebrafish Model for Nonsyndromic X‐Linked Sensorineural Deafness, DFNX1.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 544, doi. 10.1002/ar.24115
- By:
- Publication type:
- Article
Genetics of Hearing and Deafness.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2012, v. 295, n. 11, p. 1, doi. 10.1002/ar.22579
- By:
- Publication type:
- Article
Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice.
- Published in:
- International Journal of Experimental Pathology, 2011, v. 92, n. 1, p. 66, doi. 10.1111/j.1365-2613.2010.00751.x
- By:
- Publication type:
- Article
Audioprofiles and antioxidant enzyme genotypes in presbycusis.
- Published in:
- Laryngoscope, 2012, v. 122, n. 11, p. 2539, doi. 10.1002/lary.23577
- By:
- Publication type:
- Article
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
- Published in:
- Laryngoscope, 2011, v. 121, n. 4, p. 811, doi. 10.1002/lary.21422
- By:
- Publication type:
- Article
Research on technological optimization of hemicellulose from corncob by ultrasound-microwave synergistic extraction.
- Published in:
- Feed Research, 2022, v. 45, n. 9, p. 75, doi. 10.13557/j.cnki.issn1002-2813.2022.09.017
- By:
- Publication type:
- Article
Tumor-Associated Macrophages in Vestibular Schwannoma and Relationship to Hearing.
- Published in:
- OTO Open: The Official Open Access Journal of the American Academy of Otolaryngology Head & Neck Surgery Foundation, 2021, v. 5, n. 4, p. 1, doi. 10.1177/2473974X211059111
- By:
- Publication type:
- Article
PDZD7-MYO7A complex identified in enriched stereocilia membranes.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.18312
- By:
- Publication type:
- Article
Oxygen Saturation in Closed-Globe Blunt Ocular Trauma.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/8232468
- By:
- Publication type:
- Article
Role of Cyclic Nucleotide Phosphodiesterases in Inner Ear and Hearing.
- Published in:
- Frontiers in Physiology, 2017, p. 1, doi. 10.3389/fphys.2017.00908
- By:
- Publication type:
- Article
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.
- Published in:
- Annals of Human Genetics, 2016, v. 80, n. 6, p. 327, doi. 10.1111/ahg.12177
- By:
- Publication type:
- Article
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
- Published in:
- Neural Plasticity, 2019, p. 1, doi. 10.1155/2019/7143458
- By:
- Publication type:
- Article
Implementing Genomic Medicine in Care of Patients with Impaired Hearing.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2013, v. 149, n. 2, p. P229, doi. 10.1177/0194599813496044a264
- By:
- Publication type:
- Article
Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 5, p. 932, doi. 10.1177/0194599812453553
- By:
- Publication type:
- Article
Tumor Necrosis Factor Alpha Ototoxicity Is Associated with Upregulation of Smac/Diablo Gene Expression in Rat Organ of Corti Explants.
- Published in:
- 2011
- By:
- Publication type:
- Abstract
Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations.
- Published in:
- 2011
- By:
- Publication type:
- Abstract
Antioxidant enzymes, presbycusis, and ethnic variability
- Published in:
- Otolaryngology-Head & Neck Surgery, 2010, v. 143, n. 2, p. 263, doi. 10.1016/j.otohns.2010.03.024
- By:
- Publication type:
- Article
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct
- Published in:
- Otolaryngology-Head & Neck Surgery, 2009, v. 141, n. 4, p. 502, doi. 10.1016/j.otohns.2009.07.004
- By:
- Publication type:
- Article
Imaging Correlation of DFNB1 vs Non-DFNB1 Hearing Loss
- Published in:
- 2008
- By:
- Publication type:
- journal article
Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109178
- By:
- Publication type:
- Article
<i>In Vitro</i> Interaction of <i>Pseudomonas aeruginosa</i> with Human Middle Ear Epithelial Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091885
- By:
- Publication type:
- Article
Cadmium-Induced Apoptosis in Primary Rat Cerebral Cortical Neurons Culture Is Mediated by a Calcium Signaling Pathway
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064330
- By:
- Publication type:
- Article
Early Wnt Signaling Activation Promotes Inner Ear Differentiation via Cell Caudalization in Mouse Stem Cell-Derived Organoids.
- Published in:
- Stem Cells, 2023, v. 41, n. 1, p. 26, doi. 10.1093/stmcls/sxac071
- By:
- Publication type:
- Article
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 51, doi. 10.1038/79171
- By:
- Publication type:
- Article
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 56, doi. 10.1038/79178
- By:
- Publication type:
- Article
<italic>ELMOD3</italic>, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
- Published in:
- Human Genetics, 2018, v. 137, n. 4, p. 329, doi. 10.1007/s00439-018-1885-0
- By:
- Publication type:
- Article
Identification of a genetic variant underlying familial cases of recurrent benign paroxysmal positional vertigo.
- Published in:
- PLoS ONE, 2021, v. 16, n. 5, p. 1, doi. 10.1371/journal.pone.0251386
- By:
- Publication type:
- Article