X-LINKED RETINITIS PIGMENTOSA (RP3): SCREENING FOR NEW MUTATIONS AND PROMOTER ANALYSIS OF RPGR GENE

Pubblicazioni Scientifiche

• 1998 BRITISH JOURNAL OF OPHTHALMOLOGY

  Ocular signs associated with a rhodopsin mutation (Cys-167 -> Arg) in a family with autosomal dominant retinitis pigmentosa

• 1999 EUROPEAN JOURNAL OF HUMAN GENETICS

  Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

• 1998 CYTOGENETICS AND CELL GENETICS

  Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21 -> q22

• 1999 CYTOGENETICS AND CELL GENETICS

  Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene

• 1998 CLINICAL GENETICS

  Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

• 1998 EUROPEAN JOURNAL OF HUMAN GENETICS

  Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse

• 1999 EUROPEAN JOURNAL OF HUMAN GENETICS

  Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family