Patrizia Amati

TL;DR: A novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins inType II, represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.

TL;DR: The identification of a new entity of FNMTC and the mapping of the responsible gene, named "TCO" (thyroid tumors with cell oxyphilia), in a French pedigree with multiple cases of multinodular goiter and NMTC are reported.

TL;DR: This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.

TL;DR: It is suggested that Cataract-hyperferritaemia syndrome could be a new genetic disorder leading to lens opacity involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map to the same region of chromosome 19q.

TL;DR: A gene for BPES is mapped to chromosome 3q23 in a large French pedigree and the best estimate for the location of the disease gene is at locus D3S1549, between the loci D2S1292 and D3s1555.