Population structure in the mediterranean basin: a Y chromosome perspective (2005)
Capelli, C., Redhead, N., Romano, V., Cali, F., Lefranc, G., Delague, V., ...
A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome. (2000)
Santos, F. R., Pandya, A., Kayser, Manfred, Mitchell, R. J., Liu, A., Singh, L., ...
Reduced penetrance of the Huntington's disease mutation (1997)
McNeil, SM, Novelletto, A, Srinidhi, J, Barnes, G, Kornbluth, I, Altherr, MR, ...
Giunti, P., Sweeney, M. G., Spadaro, M., Jodice, C., Novelletto, A., Malaspina, P., ...
Affected members of 73 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat expansion which is found in pedigrees...
La Masturbación en el Niño; Hacia una Reevaluación del Autoerotismo / R. Spitz, A. Novelleto. (1969)
Differential structuring of human populations for homologous X and Y microsatellite loci.
Scozzari, R, Cruciani, F, Malaspina, P, Santolamazza, P, Ciminelli, B M, Torroni, A, ...
The global pattern of variation at the homologous microsatellite loci DYS413 (Yq11) and DXS8174 and DXS8175 (Xp22) was analyzed by examination of 30 world populations from four continents, accounting...
Chambliss, K L, Hinson, D D, Trettel, F, Malaspina, P, Novelletto, A, Jakobs, C, ...
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare metabolic disorder of 4-aminobutyric acid degradation, has been identified in approximately 150 patients. Affected individuals...
Malaspina, P, Cruciani, F, Ciminelli, B M, Terrenato, L, Santolamazza, P, Alonso, A, ...
In a study of 908 males from Europe, northern Africa, and western Asia, the variation of four Y-linked dinucleotide microsatellites was analyzed within three "frames" that are defined by mutations...
Scozzari, R, Cruciani, F, Santolamazza, P, Malaspina, P, Torroni, A, Sellitto, D, ...
To define Y-chromosome haplotypes, we studied seven biallelic polymorphic sites. We combined data with those from four dinucleotide-repeat polymorphisms, to establish Y-chromosome compound...
The Geographic Distribution of Human Y Chromosome Variation
Hammer, M. F., Spurdle, A. B., Karafet, T., Bonner, M. R., Wood, E. T., Novelletto, A., ...
We examined variation on the nonrecombining portion of the human Y chromosome to investigate human evolution during the last 200,000 years. The Y-specific polymorphic sites included the Y Alu...
Modiano, G., Morpurgo, G., Terrenato, L., Novelletto, A., Di Rienzo, A., Colombo, B., ...
We have previously reported that the Tharu people of the Terai region in southern Nepal have an incidence of malaria about sevenfold lower than that of synpatric non-Tharu people. In order to find...
Di Rienzo, A, Novelletto, A, Aliquò, M C, Bianco, I, Tagarelli, A, Brancati, C, ...
We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is produced by the interaction of at least 10...
The Geographic Distribution of Human Y Chromosome Variation
Hammer, M. F., Spurdle, A. B., Karafet, T., Bonner, M. R., Wood, E. T., Novelletto, A., ...
We examined variation on the nonrecombining portion of the human Y chromosome to investigate human evolution during the last 200,000 years. The Y-specific polymorphic sites included the Y Alu...
Chambliss, K L, Hinson, D D, Trettel, F, Malaspina, P, Novelletto, A, Jakobs, C, ...
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare metabolic disorder of 4-aminobutyric acid degradation, has been identified in approximately 150 patients. Affected individuals...
Malaspina, P, Cruciani, F, Ciminelli, B M, Terrenato, L, Santolamazza, P, Alonso, A, ...
In a study of 908 males from Europe, northern Africa, and western Asia, the variation of four Y-linked dinucleotide microsatellites was analyzed within three "frames" that are defined by mutations...
Scozzari, R, Cruciani, F, Santolamazza, P, Malaspina, P, Torroni, A, Sellitto, D, ...
To define Y-chromosome haplotypes, we studied seven biallelic polymorphic sites. We combined data with those from four dinucleotide-repeat polymorphisms, to establish Y-chromosome compound...
Modiano, G., Morpurgo, G., Terrenato, L., Novelletto, A., Di Rienzo, A., Colombo, B., ...
We have previously reported that the Tharu people of the Terai region in southern Nepal have an incidence of malaria about sevenfold lower than that of synpatric non-Tharu people. In order to find...
Di Rienzo, A, Novelletto, A, Aliquò, M C, Bianco, I, Tagarelli, A, Brancati, C, ...
We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is produced by the interaction of at least 10...
Differential structuring of human populations for homologous X and Y microsatellite loci.
Scozzari, R, Cruciani, F, Malaspina, P, Santolamazza, P, Ciminelli, B M, Torroni, A, ...
The global pattern of variation at the homologous microsatellite loci DYS413 (Yq11) and DXS8174 and DXS8175 (Xp22) was analyzed by examination of 30 world populations from four continents, accounting...
Frontali, M, Novelletto, A, Annesi, G, Jodice, C
Different aspects of expanded polyglutamine tracts and of their pathogenetic role are taken into consideration here. (i) The (CAG)n length of wild-type alleles of the Huntington disease gene was...
Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Giunti, P., ...
Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large...