Searching journal content for articles similar to Fukushima et al. 5 (3): 305.

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  1. REVIEW: Genomics and Hearing Impairment
    • Bronya J. B. Keats and
    • Charles I. Berlin
    Genome Res. January 1, 1999 9: 7-16; doi:10.1101/gr.9.1.7
    ...Loss Homepage (URL: http://dnalab-www.uia.ac.be/dnalab/hhh ) ( Van Camp and Smith 1998 ) lists the autosomal locations of 19 loci for dominant (DFNA*) and 19 for recessive (DFNB*) nonsyndromic sensorineural hearing impairment (Fig. 1 ). The genes at 13 of these autosomal loci have been identified; DFNA...
  2. LETTER: Contig Maps and Genomic Sequencing Identify Candidate Genes in the Usher 1C Locus
    • Michael J. Higgins,
    • Colleen D. Day,
    • Nancy J. Smilinich,
    • L. Ni,
    • Paul R. Cooper,
    • Norma J. Nowak,
    • Chris Davies,
    • Pieter J. de Jong,
    • Fielding Hejtmancik,
    • Glen A. Evans,
    • Richard J.H. Smith,
    • and Thomas B. Shows
    Genome Res. January 1, 1998 8: 57-68; doi:10.1101/gr.8.1.57
    ...of a striatum-enriched phosphatase (STEP) gene and chromosomal mapping of the human and murine loci. Genomics 28 : 442 – 449 . ↵ Liu X.Z. , Walsh J. , Mburu P. , Kendrickjones J. , Cope M.J.T.V. , Steel K.P. , Brown S.D.M. ( 1997 ) Mutations in the MYOSIN VIIA gene cause non-syndromic recessive deafness. Nature...
  3. Research: Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
    • Merel Stemerdink,
    • Tabea Riepe,
    • Nick Zomer,
    • Renee Salz,
    • Michael Kwint,
    • Jaap Oostrik,
    • Raoul Timmermans,
    • Barbara Ferrari,
    • Stefano Ferrari,
    • Alfredo Dueñas Rey,
    • Emma Delanote,
    • Suzanne E. de Bruijn,
    • Hannie Kremer,
    • Susanne Roosing,
    • Frauke Coppieters,
    • Alexander Hoischen,
    • Frans P.M. Cremers,
    • Peter A.C. ‘t Hoen,
    • Erwin van Wijk,
    • and Erik de Vrieze
    Genome Res. April 2025 35: 725-739; Published in Advance March 4, 2025, doi:10.1101/gr.280060.124
    ...investigated using PacBio Iso-Seq technology. The longest two annotated transcripts of IRD-associated genes are USH2A (18.9 kb) and ADGRV1 (19.6 kb), both associated with Usher syndrome, which is an autosomal recessively inherited disorder characterized by the combination of sensorineural hearing loss...
  4. ARTICLE: 2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries.
    • J W Touchman,
    • G G Bouffard,
    • L A Weintraub,
    • J R Idol,
    • L Wang,
    • C M Robbins,
    • J C Nussbaum,
    • M Lovett,
    • and E D Green
    Genome Res. March 1997 7: 281-292; doi:10.1101/gr.7.3.281
    .... Britton, K. Pembrey, M. Reardon, W. and Trembath. R. 1996 . Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nature Genet. 12 : 421 – 423 . Curran, M.E., , Splawski, I. , Timothy, K.W. , Vincent, G.M. , Green, E...
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