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Journal Abstract Search

209 related items for PubMed ID: 8900236

  • 21.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 22. Novel mutations in MYO7A and USH2A in Usher syndrome.
    Maubaret C, Griffoin JM, Arnaud B, Hamel C.
    Ophthalmic Genet; 2005 Mar; 26(1):25-9. PubMed ID: 15823922
    [Abstract] [Full Text] [Related]

  • 23. Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.
    Ma Y, Xiao Y, Zhang F, Han Y, Li J, Xu L, Bai X, Wang H.
    Int J Pediatr Otorhinolaryngol; 2016 Apr; 83():179-85. PubMed ID: 26968074
    [Abstract] [Full Text] [Related]

  • 24. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
    Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ.
    Am J Hum Genet; 2000 Apr; 66(4):1199-210. PubMed ID: 10729113
    [Abstract] [Full Text] [Related]

  • 25. Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function.
    Watanabe S, Umeki N, Ikebe R, Ikebe M.
    Biochemistry; 2008 Sep 09; 47(36):9505-13. PubMed ID: 18700726
    [Abstract] [Full Text] [Related]

  • 26. Screen for usher syndrome 1B mutations in the ovine myosin VIIa gene.
    Slatter T, Azarian SM, Tebbutt S, Maw M, Williams DS.
    Adv Exp Med Biol; 2003 Sep 09; 533():151-5. PubMed ID: 15180259
    [No Abstract] [Full Text] [Related]

  • 27. Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
    Liu F, Li P, Liu Y, Li W, Wong F, Du R, Wang L, Li C, Jiang F, Tang Z, Liu M.
    Mol Vis; 2013 Sep 09; 19():695-701. PubMed ID: 23559863
    [Abstract] [Full Text] [Related]

  • 28. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
    Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C.
    Proc Natl Acad Sci U S A; 1996 Apr 16; 93(8):3232-7. PubMed ID: 8622919
    [Abstract] [Full Text] [Related]

  • 29. Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
    Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, García-Sandoval B, Ayuso C, Nájera C, Beneyto M.
    Mol Cell Probes; 1998 Dec 16; 12(6):417-20. PubMed ID: 9843659
    [Abstract] [Full Text] [Related]

  • 30. The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
    Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ.
    Genomics; 1997 Feb 15; 40(1):73-9. PubMed ID: 9070921
    [Abstract] [Full Text] [Related]

  • 31. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
    Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.
    Hum Mutat; 2008 Jun 15; 29(6):E37-46. PubMed ID: 18429043
    [Abstract] [Full Text] [Related]

  • 32. Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.
    Zong L, Chen K, Wu X, Liu M, Jiang H.
    Int J Pediatr Otorhinolaryngol; 2016 Nov 15; 90():150-155. PubMed ID: 27729122
    [Abstract] [Full Text] [Related]

  • 33. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
    Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C.
    Hum Mutat; 2001 Nov 15; 17(1):34-41. PubMed ID: 11139240
    [Abstract] [Full Text] [Related]

  • 34. Molecular genetics of Usher syndrome.
    Eudy JD, Sumegi J.
    Cell Mol Life Sci; 1999 Oct 15; 56(3-4):258-67. PubMed ID: 11212353
    [Abstract] [Full Text] [Related]

  • 35. 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.
    Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ.
    Genes (Basel); 2021 Feb 15; 12(2):. PubMed ID: 33671976
    [Abstract] [Full Text] [Related]

  • 36. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
    Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M, French Usher Syndrome Collaboration.
    J Med Genet; 2006 Sep 15; 43(9):763-8. PubMed ID: 16679490
    [Abstract] [Full Text] [Related]

  • 37. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
    von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A.
    Hum Mutat; 2002 Mar 15; 19(3):268-73. PubMed ID: 11857743
    [Abstract] [Full Text] [Related]

  • 38. Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.
    Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM.
    Otolaryngol Head Neck Surg; 2013 Sep 15; 149(3):478-87. PubMed ID: 23770805
    [Abstract] [Full Text] [Related]

  • 39. Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
    Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS.
    Exp Eye Res; 2001 May 15; 72(5):503-9. PubMed ID: 11311042
    [Abstract] [Full Text] [Related]

  • 40. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
    Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ.
    Clin Genet; 2010 Jun 15; 77(6):563-71. PubMed ID: 20132242
    [Abstract] [Full Text] [Related]

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