Lucia Galli

<i>MECP2</i> mutation in male patients with non‐specific X‐linked mental retardation

Alfredo Orrico, Ching‐Wan Lam, Lucia Galli et al. · FEBS Letters · 2000 · 228 citations

Severe Mental Retardation, Mendelian Disorder, Psychiatry +14

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Maria Teresa Bassi, Maria Vittoria Schiaffino, Alessandra Renieri et al. · Nature Genetics · 1995 · 203 citations

Cytogenetics, X Chromosome, Genetics +10

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

Alessandra Renieri, Mirella Bruttini, Lucia Galli et al. · PubMed · 1996 · 110 citations · Full text

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere et al. · European Journal of Human Genetics · 2003 · 86 citations · Full text

Aarskog–scott Syndrome, Molecular Characterisation, Mendelian Disorder +10

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

Maria Vittoria Schiaffino, Maria Teresa Bassi, Lucia Galli et al. · Human Molecular Genetics · 1995 · 83 citations