Concepedia

Carrier screening for spinal muscular atrophy in Italian population

Giuseppa Ruggeri, Valeria Chiavetta, Carmela Scuderi, Sebastiano Bianca, Chiara Barone, Alda Ragalmuto, Pietro Schinocca, Girolamo Aurelio Vitello, Valentino Romano, S Musumeci

Journal of Genetics · 2014 · 28 citations · 9 references

DOI

Concepts

References

9

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Elaine A. Sugarman, Narasimhan Nagan, Hui Zhu et al. · European Journal of Human Genetics · 2011 · 674 citations · Full text

, , +16

CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES

John Pearn · The Lancet · 1980 · 426 citations

, , +9

KUPFFER CELLS AND CIRRHOSIS

M. Bjørneboe, Hanne Prytz · The Lancet · 1975 · 302 citations

, , +12

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

Cornelia Di Gaetano, N. Cerutti, Francesca Crobu et al. · European Journal of Human Genetics · 2008 · 52 citations · Full text

, , +17