• Publications
  • Influence
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2. Expand
The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective.
A significant correlation between the NRY haplotype data and principal components based on 95 protein markers was observed, indicating the effectiveness of NRY binary polymorphisms in the characterization of human population composition and history. Expand
The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations
A set of unique event polymorphisms associated with the non‐recombining portion of the Y‐chromosome (NRY) addresses this issue by providing evidence concerning successful migrations originating from Africa, which can be interpreted as subsequent colonizations, differentiations and migrations overlaid upon previous population ranges. Expand
Y chromosome sequence variation and the history of human populations
Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permittingExpand
CD133(+) and CD133(-) glioblastoma-derived cancer stem cells show differential growth characteristics and molecular profiles.
Together, the data provide first evidence that CD133(+) CSC maintain only a subset of primary glioblastomas, with apparent stem cell-like properties but distinct molecular profiles and growth characteristics in vitro and in vivo. Expand
Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area.
The phylogeography of Y-chromosome haplogroups E and J was investigated in >2400 subjects from 29 populations, mainly from Europe and the Mediterranean area but also from Africa and Asia, revealing spatial patterns that are consistent with a Levantine/Anatolian dispersal route to southeastern Europe. Expand
The extent of linkage disequilibrium in Arabidopsis thaliana
It is shown that in global samples, LD decays within approximately 1 cM, or 250 kb, and that LD in local populations may be much stronger than that of global populations, presumably as a result of founder events. Expand
Genome sequencing and comparative analysis of Saccharomyces cerevisiae strain YJM789
The genome of Saccharomyces cerevisiae strain YJM789, which was derived from a yeast isolated from the lung of an AIDS patient with pneumonia, contains clues to pathogenicity and spurs the development of more powerful approaches to dissecting the genetic basis of complex hereditary traits. Expand
Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography.
It is now possible to anticipate the inevitable detailed reconstruction of human Y chromosome genealogy based on several tens to even hundreds of these important polymorphisms. Expand
Excavating Y-chromosome haplotype strata in Anatolia
This comprehensive characterization of Y-chromosome heritage addresses many multifaceted aspects of Anatolian prehistory, including: the most frequent haplogroup, J, splits into two sub-clades, one of which (J2) shows decreasing variances with increasing latitude, compatible with a northward expansion. Expand