Phenotypical and molecular characterization of portuguese usher syndrome patients

Master thesis English OPEN
Nunes, Jóni Luís Soares;
(2015)
  • Subject: AON | USH2A mutations | rearrangements | NGS | Usher Syndrome
    mesheuropmc: otorhinolaryngologic diseases

Trabalho final de mestrado integrado em Medicina (Oftalmologia), apresentado à Faculdade de Medicina da Universidade de Coimbra. Introduction: Usher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss (HL), visual loss due t... View more
  • References (5)

    2. Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthalm. Hosp. Rep. 19: 130-236, 1914.

    3. Von Graefe, A. Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Graefes Arch. Ophthalm. 4: 250-253, 1858.

    4. Liebreich, R. Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa. Dtsch. Klin. 13: 53 only, 1861.

    5. Hammerschlag, V. Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential-diagnostische Bedeutung. Z. Ohrenheilk. 54: 18-36, 1907.

    21. Aller E, Larrieu L, Jaijo T, Baux D, Espinos E et al. The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet 18: 788-793.

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