474 results on '"Griffith, Andrew J."'
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2. CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
3. Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
4. AAV8BP2 and AAV8 transduce the mammalian cochlear lateral wall and endolymphatic sac with high efficiency
5. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
6. Small Molecule MIF Modulation Enhances Ferroptosis by Impairing DNA Repair Mechanisms.
7. Cochlear Pathomorphogenesis of Incomplete Partition Type II in Slc26a4-Null Mice
8. Transgenic Tg(Kcnj10-ZsGreen) Fluorescent Reporter Mice Allow Visualization of Intermediate Cells in the Stria Vascularis
9. Enlarged Vestibular Aqueduct
10. Contributors
11. Systemic Fluorescent Gentamicin Enters Neonatal Mouse Hair Cells Predominantly Through Sensory Mechanoelectrical Transduction Channels
12. Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt ElectroretinographyCone ERGs in Usher Syndrome
13. Mouse Models Reveal the Role of Pendrin in the Inner Ear
14. NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
15. Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome
16. Variants ofLRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy
17. Vaccination with human alphapapillomavirus-derived L2 multimer protects against human betapapillomavirus challenge, including in epidermodysplasia verruciformis model mice
18. Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation
19. A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
20. Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.
21. Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function
22. Autosomal and X-Linked Auditory Disorders
23. Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation
24. 14 - Enlarged Vestibular Aqueduct
25. Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome
26. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
27. Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
28. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
29. Author response: Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
30. Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C
31. Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
32. Otolaryngologic markers for the early diagnosis of Turner syndrome
33. Isolation and Characterization of cDNA Encoding the 80-kDa Subunit Protein of the Human Autoantigen Ku (p70/p80) Recognized by Autoantibodies from Patients with Scleroderma-Polymyositis Overlap Syndrome
34. Potential therapy for progressive vision loss due to PCDH15-associated Usher Syndrome developed in an orthologous Usher mouse
35. Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes
36. Mouse model of enlarged vestibular aqueducts defines temporal requirement of SLC26a4 expression for hearing acquisition
37. Dissection of the Endolymphatic Sac from Mice
38. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3
39. Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder
40. Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc[1.sup.Bth]) mouse model of progressive hearing loss DFNA36
41. Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome
42. Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components
43. Modification of human hearing loss by plasma-membrane calcium pump PMCA2
44. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
45. Use of SLC26A4 Mutation Testing for Unilateral Enlargement of the Vestibular Aqueduct
46. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency
47. Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration
48. Knock-in Mouse Model for Resistance to Thyroid Hormone (RTH): An RTH Mutation in the Thyroid Hormone Receptor Beta Gene Disrupts Cochlear Morphogenesis
49. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
50. Hereditary Hearing Loss with Thyroid Abnormalities
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