Publications in collaboration with researchers from Azienda Ospedaliero Universitaria di Sassari (5)

1999

  1. Evidence for genetic heterogeneity in benign familial hematuria

    American Journal of Nephrology, Vol. 19, Núm. 4, pp. 464-467

1998

  1. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: A new X linked contiguous gene deletion syndrome?

    Journal of Medical Genetics, Vol. 35, Núm. 4, pp. 273-278

  2. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation

    Genomics, Vol. 47, Núm. 3, pp. 350-358

1996

  1. X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene

    American Journal of Human Genetics, Vol. 58, Núm. 6, pp. 1192-1204

1995

  1. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

    American Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 380-385