Michele D’Urso

The DNA sequence of the human X chromosome

Mark T. Ross, Darren Grafham, Alison J. Coffey et al. · Nature · 2005 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

A Meindl, Katherine L. Dry, Karin A. Herrmann et al. · Nature Genetics · 1996 · 480 citations

Medicine, Genetics, Molecular Genetics +2

Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia

Diego Ingrosso, Amelia Cimmino, Alessandra Perna et al. · The Lancet · 2003 · 427 citations

Medicine, Genetics, Molecular Medicine +10

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

Tom Vulliamy, Michele D’Urso, G. Battistuzzi et al. · Proceedings of the National Academy of Sciences · 1988 · 255 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region

M. Graziella Persico, Giuseppe Viglietto, G. Martini et al. · Nucleic Acids Research · 1986 · 246 citations · Full text

Life Sciences, Genetics, Molecular Biology +8