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Galactose and glucose metabolism in galactokinase deficient, galactose-1-P-uridyl transferase deficient and normal human fibroblasts.
- Published in:
- Journal of Cellular Physiology, 1975, v. 85, n. 3, p. 569, doi. 10.1002/jcp.1040850308
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- Article
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
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- Journal of Clinical Investigation, 2012, v. 122, n. 4, p. 1233, doi. 10.1172/JCI60981
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- Article
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition.
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- 2011
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- Publication type:
- journal article
Confirmation of the Location of a Waardenburg Syndrome Type I Mutation on Human Chromosome 2q<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 295, doi. 10.1111/j.1749-6632.1991.tb19611.x
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- Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 805, doi. 10.1007/s00439-021-02319-7
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- Article
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 363, doi. 10.1007/s00439-021-02304-0
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- Publication type:
- Article
Auditory mechanotransduction in the absence of functional myosin-XVa.
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- Journal of Physiology, 2006, v. 576, n. 3, p. 801, doi. 10.1113/jphysiol.2006.118547
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- Article
Bipolar filaments of human nonmuscle myosin 2-A and 2-B have distinct motile and mechanical properties.
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- eLife, 2018, p. 1, doi. 10.7554/eLife.32871
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- Publication type:
- Article
The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing.
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- eLife, 2015, p. 1, doi. 10.7554/eLife.08627
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- Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 641, doi. 10.1038/jhg.2013.85
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- Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 102, doi. 10.1038/jhg.2012.143
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- Publication type:
- Article
Molecular and clinical studies of X-linked deafness among Pakistani families.
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- Journal of Human Genetics, 2011, v. 56, n. 10, p. 752, doi. 10.1038/jhg.2011.89
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- Publication type:
- Article
Molecular and clinical studies of X-linked deafness among Pakistani families.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 534, doi. 10.1038/jhg.2011.55
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- Article
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21
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- Publication type:
- Article
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
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- Nature Genetics, 2002, v. 30, n. 3, p. 257, doi. 10.1038/ng848
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- Article
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
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- Nature Genetics, 2000, v. 26, n. 4, p. 431, doi. 10.1038/82558
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- Publication type:
- Article
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
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- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007297
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- Article
Genetic insights into the morphogenesis of inner ear hair cells.
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- Nature Reviews Genetics, 2004, v. 5, n. 7, p. 489, doi. 10.1038/nrg1377
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- Article
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
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- Human Genetics, 2008, v. 124, n. 3, p. 215, doi. 10.1007/s00439-008-0543-3
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- Publication type:
- Article
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
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- Human Genetics, 2007, v. 122, n. 5, p. 445, doi. 10.1007/s00439-007-0418-z
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- Publication type:
- Article
A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.
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- Human Genetics, 2007, v. 122, n. 1, p. 103, doi. 10.1007/s00439-007-0384-5
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- Publication type:
- Article
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3.
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- Human Genetics, 2007, v. 120, n. 6, p. 789, doi. 10.1007/s00439-006-0275-1
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- Article
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
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- Human Genetics, 2002, v. 110, n. 6, p. 527, doi. 10.1007/s00439-002-0732-4
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- Publication type:
- Article
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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- Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604
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- Publication type:
- Article
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.
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- eLife, 2021, p. 1, doi. 10.7554/eLife.67361
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- Publication type:
- Article
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 125, doi. 10.1038/ejhg.2009.121
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- Article
Twinfilin 2 Regulates Actin Filament Lengths in Cochlear Stereocilia.
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- Journal of Neuroscience, 2009, v. 29, n. 48, p. 15083, doi. 10.1523/JNEUROSCI.2782-09.2009
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- Article
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15.
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- Journal of Neuroscience, 2006, v. 26, n. 26, p. 7022, doi. 10.1523/JNEUROSCI.1163-06.2006
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- Publication type:
- Article
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
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- Nature Cell Biology, 2005, v. 7, n. 2, p. 148, doi. 10.1038/ncb1219
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- Article
Myosin 18Aα targets the guanine nucleotide exchange factor β‐Pix to the dendritic spines of cerebellar Purkinje neurons and promotes spine maturation.
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- FASEB Journal, 2021, v. 35, n. 1, p. 1, doi. 10.1096/fj.202001449R
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- Article
Exosomes mediate sensory hair cell protection in the inner ear.
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- 2020
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- Publication type:
- journal article
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
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- 2018
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- Publication type:
- journal article
ULTRASTRUCTURAL EFFECTS OF A SUPPRESSOR MUTATION IN DROSOPHILA.
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- Genetics, 1970, v. 64, n. 3/4, p. 459
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- Publication type:
- Article
Defective Gpsm2/Gα<sub>i3</sub> signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.
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- Nature Communications, 2017, v. 8, n. 4, p. 14907, doi. 10.1038/ncomms14907
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- Publication type:
- Article
Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear.
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- Nature Communications, 2015, v. 6, n. 4, p. 6873, doi. 10.1038/ncomms7873
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- Article
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514
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- Article
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.
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- Clinical Genetics, 2022, v. 101, n. 4, p. 466, doi. 10.1111/cge.14115
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- Article
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 226, doi. 10.1111/cge.13868
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- Article
Growth factor and receptor malfunctions associated with human genetic deafness.
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- Clinical Genetics, 2020, v. 97, n. 1, p. 138, doi. 10.1111/cge.13641
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- Publication type:
- Article
TRPA1-mediated accumulation of aminoglycosides in mouse cochlear outer hair cells.
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- 2011
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- Publication type:
- journal article
CD44 is a marker for the outer pillar cells in the early postnatal mouse inner ear.
- Published in:
- 2010
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- Publication type:
- journal article
ILDR1null mice, amodel of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells
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- Human Molecular Genetics, 2015, v. 24, n. 3, p. 609, doi. 10.1093/hmg/ddu474
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- Article
Pathophysiology of human hearing loss associated with variants in myosins.
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- Frontiers in Physiology, 2024, p. 01, doi. 10.3389/fphys.2024.1374901
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- Publication type:
- Article
Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells.
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- PLoS Biology, 2013, v. 11, n. 6, p. 1, doi. 10.1371/journal.pbio.1001583
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- Publication type:
- Article
Author Correction: Defective Gpsm2/Gα<sub>i3</sub> signalling disrupts stereocilia development and growth cone actin dynamics in Chudley- McCullough syndrome.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/ncomms16188
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- Publication type:
- Article
Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system.
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- European Journal of Neuroscience, 2007, v. 25, n. 4, p. 999, doi. 10.1111/j.1460-9568.2007.05332.x
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- Publication type:
- Article
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.
- Published in:
- Journal of Neuroscience, 2020, v. 40, n. 15, p. 2976, doi. 10.1523/JNEUROSCI.2278-19.2020
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- Publication type:
- Article
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome.
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- Human Mutation, 2019, v. 40, n. 2, p. 162, doi. 10.1002/humu.23689
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- Publication type:
- Article
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
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- Human Mutation, 2016, v. 37, n. 10, p. 991, doi. 10.1002/humu.23042
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- Article
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
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- Human Mutation, 2008, v. 29, n. 4, p. 502, doi. 10.1002/humu.20677
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- Publication type:
- Article