Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. (Articolo in rivista)

Type
Label
  • Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.3109/14992020309081517 (literal)
Alternative label
  • Di Leva F, D'Adamo AP, Strollo L, Auletta G, Caravelli A, Carella M, Mari F, Livi W, Renieri A, Gasparini P, D'Urso M, Marciano E, Franze A. (2003)
    Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.
    in International journal of audiology (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Di Leva F, D'Adamo AP, Strollo L, Auletta G, Caravelli A, Carella M, Mari F, Livi W, Renieri A, Gasparini P, D'Urso M, Marciano E, Franze A. (literal)
Pagina inizio
  • 475 (literal)
Pagina fine
  • 480 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 42 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Analisi di linkage in famiglie otosclerotiche italiane, esclusione per i loci già noti in letterartura e evidenze della presenza di un nuovo locus genetico per l'otosclerosi. (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Inst. of Genetics and Biophysics \"A: Buzzati-Traverso\", CNR, Naples, Italy Inst. of Audiology, Dep. of Neuroscience and Behavioural Sciences, Univ. Federico II, Naples, Italy TIGEM, Naples, Italy Medical Genetics, Univ. of Siena, Italy Otolaringology, Univ. of Siena, Italy (literal)
Titolo
  • Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. (literal)
Abstract
  • Otosclerosis is the single most common cause of hearing impairment among adult caucasians. Little is known about its actiology and its molecular aspects. Until now, genetic linkage in otosclerosis has been demonstrated in an Indian family and a Belgian family. showing the presence of two otosclerosis loci, OTSC1 and OTSC2, respectively Linkage analysis has never been applied to Italian otosclerotic families. We have collected four multigenerational Italian otosclerotic families that show dominant transmission for the pathology. Here, we report a detailed audiological analysis of these families and a genetic linkage study on the OTSCI and OTSC2 loci. Statistical analysis revealed the absence of linkage between the disease in our families and the OTSCI and OTSC2 loci. These data strongly suggest the presence of one or more additional loci for otosclerosis. which still need to be defined (literal)
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