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Examining Resident Power Building in a Place-Based Initiative.
- Published in:
- Health Promotion Practice, 2022, v. 23, n. 6, p. 955, doi. 10.1177/15248399211045355
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- Publication type:
- Article
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 984, doi. 10.15252/emmm.201403976
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- Publication type:
- Article
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.
- Published in:
- EMBO Molecular Medicine, 2009, v. 1, n. 2, p. 125, doi. 10.1002/emmm.200900015
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- Publication type:
- Article
Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 6, p. 439, doi. 10.1034/j.1399-0004.2000.570607.x
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- Publication type:
- Article
Unprecedented Chain-Length-Dependent Conformational Conversion Between 11/9 and 18/16 Helix in α/β-Hybrid Peptides.
- Published in:
- Angewandte Chemie International Edition, 2014, v. 53, n. 48, p. 13131, doi. 10.1002/anie.201407329
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- Publication type:
- Article
Helical Oligomers of Thiazole-Based γ-Amino Acids: Synthesis and Structural Studies.
- Published in:
- Angewandte Chemie International Edition, 2013, v. 52, n. 23, p. 6006, doi. 10.1002/anie.201302106
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- Publication type:
- Article
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0316-8
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- Publication type:
- Article
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 96, doi. 10.1186/s13023-015-0316-8
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- Publication type:
- Article
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
- Published in:
- 2015
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- Publication type:
- journal article
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-55
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- Publication type:
- Article
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
- Published in:
- 2014
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- Publication type:
- journal article
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.
- Published in:
- EMBO Journal, 2002, v. 21, n. 24, p. 6689, doi. 10.1093/emboj/cdf689
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- Publication type:
- Article
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex.
- Published in:
- EMBO Journal, 2000, v. 19, n. 22, p. 6020, doi. 10.1093/emboj/19.22.6020
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- Publication type:
- Article
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10352, doi. 10.3390/ijms221910352
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- Publication type:
- Article
MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.
- Published in:
- 2002
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- Publication type:
- Report
Central auditory deficits associated with genetic forms of peripheral deafness.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 335, doi. 10.1007/s00439-021-02339-3
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- Publication type:
- Article
Otoferlin acts as a Ca<sup>2+</sup> sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.31013.001
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- Publication type:
- Article
Synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10988
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- Publication type:
- Article
A Novel Heterozygous Missense Variant (c.667G>T;p. Gly223Cys) in USH1C That Interferes With Cadherin- Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
- Published in:
- Annals of Laboratory Medicine, 2020, v. 40, n. 3, p. 224, doi. 10.3343/alm.2020.40.3.224
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- Publication type:
- Article
Otologie et audiologie, un parcours de soin en pleine mutation à la lumière des avancées scientifiques.
- Published in:
- 2022
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- Publication type:
- Editorial
L'anémone de mer Nematostella vectensis: Un modèle émergent pour la recherche biomédicale : mécano-sensibilité, régénération et longévité.
- Published in:
- Médecine Sciences, 2021, v. 37, n. 2, p. 167, doi. 10.1051/medsci/2020282
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- Publication type:
- Article
Thérapie génique des surdités humaines: Défis et promesses.
- Published in:
- Médecine Sciences, 2013, v. 29, n. 10, p. 883, doi. 10.1051/medsci/20132910016
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- Publication type:
- Article
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
- Published in:
- Nature Genetics, 2009, v. 41, n. 1, p. 106, doi. 10.1038/ng.278
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- Publication type:
- Article
Ciliary proteins link basal body polarization to planar cell polarity regulation.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 69, doi. 10.1038/ng.2007.54
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- Publication type:
- Article
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 770, doi. 10.1038/ng1829
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- Publication type:
- Article
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 345, doi. 10.1038/ng726
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- 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
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- Publication type:
- Article
Targeted disruption of Otog results in deafness and severe imbalance.
- Published in:
- Nature Genetics, 2000, v. 24, n. 2, p. 139, doi. 10.1038/72793
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- Publication type:
- Article
Unprecedented Chain-Length-Dependent Conformational Conversion Between 11/9 and 18/16 Helix in α/β-Hybrid Peptides.
- Published in:
- Angewandte Chemie, 2014, v. 126, n. 48, p. 13347, doi. 10.1002/ange.201407329
- By:
- Publication type:
- Article
Helical Oligomers of Thiazole-Based γ-Amino Acids: Synthesis and Structural Studies.
- Published in:
- Angewandte Chemie, 2013, v. 125, n. 23, p. 6122, doi. 10.1002/ange.201302106
- By:
- Publication type:
- Article
Robust Helix Formation in a New Family of Oligoureas Based on a Constrained Bicyclic Building Block.
- Published in:
- Angewandte Chemie, 2012, v. 124, n. 45, p. 11429, doi. 10.1002/ange.201205842
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- Publication type:
- Article
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
- Published in:
- Documenta Ophthalmologica, 2019, v. 139, n. 2, p. 151, doi. 10.1007/s10633-019-09704-8
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- Publication type:
- Article
Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.
- Published in:
- Developmental Dynamics, 1999, v. 215, n. 1, p. 26, doi. 10.1002/(SICI)1097-0177(199905)215:1<26::AID-DVDY4>3.0.CO;2-D
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- Publication type:
- Article
Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome.
- Published in:
- Developmental Dynamics, 1998, v. 213, n. 4, p. 486, doi. 10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L
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- Publication type:
- Article
Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites.
- Published in:
- Journal of Cell Biology, 2003, v. 163, n. 3, p. 559, doi. 10.1083/jcb.200302157
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- Publication type:
- Article
Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120584
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- Publication type:
- Article
Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0103133
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- Publication type:
- Article
Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099797
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- Publication type:
- Article
Methicillin-Resistant <i>Staphylococcus aureus</i> in Saarland, Germany: A Statewide Admission Prevalence Screening Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073876
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- Publication type:
- Article
Exome Sequencing and Linkage Analysis Identified Tenascin-C (<i>TNC</i>) as a Novel Causative Gene in Nonsyndromic Hearing Loss.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069549
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- Publication type:
- Article
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
- Published in:
- Biochemical Genetics, 2024, v. 62, n. 3, p. 1914, doi. 10.1007/s10528-023-10515-5
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- Publication type:
- Article
Impact of C<sup>α</sup>-Chirality on Supramolecular Self-Assembly in Cyclo-2:1-[α/aza]-Hexamers (D/L-Phe-azaPhe-Ala)<sub>2</sub>.
- Published in:
- European Journal of Organic Chemistry, 2017, v. 2017, n. 32, p. 4703, doi. 10.1002/ejoc.201700555
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- Publication type:
- Article
Horseradish Peroxidase Immobilized Electrode for Phenothiazine Analysis.
- Published in:
- Electroanalysis, 1998, v. 10, n. 18, p. 1241, doi. 10.1002/(SICI)1521-4109(199812)10:18<1241::AID-ELAN1241>3.0.CO;2-Q
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- Publication type:
- Article
<sup>1</sup>H, <sup>13</sup>C and <sup>15</sup>N Resonance Assignment of the N-terminal Domain of PilB from Neisseria Meningitidis.
- Published in:
- Journal of Biomolecular NMR, 2006, v. 36, p. 6, doi. 10.1007/s10858-005-4737-x
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- Publication type:
- Article
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2023, v. 280, n. 9, p. 4057, doi. 10.1007/s00405-023-07907-z
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- Publication type:
- Article
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 24, doi. 10.1007/s00439-002-0836-x
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- 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
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- Publication type:
- Article
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 348, doi. 10.1007/s00439-002-0690-x
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- Publication type:
- Article
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
- Published in:
- International Journal of Dermatology, 2019, v. 58, n. 12, p. 1439, doi. 10.1111/ijd.14452
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- Publication type:
- Article
Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 122, doi. 10.1038/ejhg.2008.155
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- Publication type:
- Article