torna al laboratorio di genetica umana

Pubblicazioni - 2002/2006

Blasi C., Pilo Boyl P., Ledda M., Novelletto A., Gibson K.M., Jakobs C., Hogema B., Akaboshi S., Loreni F., Malaspina P. (2002) Structure of human succinic semialdehyde dehydrogenase gene, identification of promoter region and alternatively processed isoforms. Mol. Genet. Metab. 76,348-362.

Ciminelli Bm, Pompei F, Relucenti M, Lum Jk, Simpore J, Spedini G, Martinez-Labarga C, Pardo Mg. (2002). Confirmation of the potential usefulness of two human beta globin pseudogene markers to estimate gene flows to and from sub-Saharan Africans. Hum. Biol. 74, 243-52.

Frontali M., Jodice C. (2002) Spinocerebellar Ataxia Type 6. (Review). In: The Cerebellum And Its Disorders (M. Manto, M. Pandolfo Eds). Cambridge University Press, Cambridge, England.

Gibson K.M., Malaspina P., Blasi P., Novelletto A. (2002). Succinic Semialdehyde Dehydrogenase. In: Wiley Encyclopedia of Molecular Medicine, 5 Vol.( Set Ed.) John Wiley & Sons, Inc., 3031-3035.

Mastropietro F, Modiano G, Cappabianca M, Foglietta E, D'asero C, Mezzabotta M, Ponzini D, Maffei L, Amato A, Lerone M, Grisanti P, Di Biagio P, Rinaldi S, Bianco I. (2002). Factors Regulating Hb F Synthesis In Thalassemic Diseases. Bmc. Blood Disord. 2, 2 -9


Akaboshi S., Hogema B.M., Novelletto A., Malaspina P. , Salomons G. S., Maropoulos G.D., Jakobs C., Grompe M., Gibson K.M. (2003) Mutational Spectrum Of The Succinate Semialdehyde Dehydrogenase (Aldh5a1) Gene And Functional Analysis Of 27 Novel Disease-Causing Mutations In Patients With Ssadh Deficiency. Hum. Mut. 22, 442-450.

De Chiara C, Giannini C, Adinolfi S, De Boer J, Guida S, Ramos A, Jodice C, Kioussis D, Pastore A. (2003) The Axh Module, An Independently Folded Domain Common To Ataxin-1 And Hbp1. Febs Lett. 551, 107-12.

Di Giacomo F., Luca F., Anagnou N., Ciavarella G., Corbo R.M., Cresta M., Cucci F., Di Stasi L., Agostiano V., Giparaki M., Loutradis A., Mammi’ C., Michalodimitrakis E.N., Papola F., Pedicini G., Plata E., Terrenato L., Tofanelli S., Malaspina P., Novelletto A. (2003) Clinal Patterns Of Human Y Chromosome Diversity In Continental Italy Is Dominated By Drift And Founder Effects. Molec. Phyl. Evol. 28, 387-395.

Mantuano E, Veneziano L, Jodice C, Frontali M. (2003) Spinocerebellar Ataxia Type 6 And Episodic Ataxia Type 2, Differences And Similarities Between 2 Allelic Disorders. Cytogenet. Genome Res. 100, 147-153.

Terrenato L. (2003) An Experiment At Tor Vergata University Of Rome (Italy). Cultural Studies 17, 300-303.


Di Giacomo F., Luca F., Popa L.O., Akar N., Anagnou N., Baniko J., Brdicka R., Barbujani G., Papola F., Ciavarella G., Cucci F., Di Stasi L., Gavrila L., Kerimova M.G., Kovatchev D., Koslov A. I., Loutradis A., Mandarino V., Mammi’ C., Michalodimitrakis E.N., Poali G., Pappa K.I., Pedicini G., Terrenato L., Tofanelli S., Malaspina P., Novelletto A. (2004). Y Chromosomal Haplogroup J As A Signature Of The Post-Neolithic Colonization Of Europe. Hum. Genet. 115,357-371.

Mantuano E., Veneziano L., Spadaro M., Giunti P., Guida S., Leggio M., Verriello L., Wood N., Jodice C., Frontali M. (2004) Clusters Of Non-Truncating Mutations Of P/Q Type Ca2+ Channel Subunit Cav2.1 Causing Episodic Ataxia 2. J. Med. Genet. 41, E82.

Leone O, Blasi P, Palmerio F, Kozlov AI, Malaspina P, Novelletto A. A human derived SSADH coding variant is replacing the ancestral allele shared with primates. Ann Hum Biol 2006, in press
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Luca F, Di Giacomo F, Benincasa T, Popa LO, Banyko J, Kracmarova A, Malaspina P, Novelletto A, Brdicka R. Y-chromosomal variation in the Czech Republic. Am J Phys Anthropol 2006, in press
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