A F Wright

TL;DR: The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.

TL;DR: A linkage stud in twelve bipolar families, carrying out a single family genome search employing 193 markers indicate linkage on chromosome 4p where the marke D4S394 generated a two-point lod score under a dominant model of inheritance.

TL;DR: Examining fifteen Scottish schizophrenic families with restriction fragment length polymorphisms that span this region found no evidence for linkage, regardless of how broadly or narrowly the schizophrenic phenotype is defined, and conclude that a susceptibility locus on the proximal portion of the long arm of chromosome 5 can be responsible for only a minority of cases of familial schizophrenia.

TL;DR: Three consanguineous BBS families are homozygous for three adjacent chromosome 15 markers, consistent with identity by descent for this region, and a fourth group of families, estimated at 8%, are unlinked to all three of the above loci, showing that at least one other BBS locus remains to be found.

TL;DR: Risk assessment showed that 2 out of 4 “at risk” females showing no clinical abnormality have a high probability of being genetic carriers of XLRP, and the possibility that previously observed ciliary abnormalities in XLRP patients might be associated specifically with an RP3 locus abnormality is discussed.