3q23

Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who… Expand

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant malformation of the eyelids that may… Expand

The hypothesis of this article is that late onset Alzheimer's disease (AD) is influenced by the availability in brain of retinoic… Expand

In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure… Expand

Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial… Expand

Phospholipid (PL) scramblase is a 35 kDa protein that is thought to mediate Ca2+-induced bidirectional transbilayer movement of… Expand

BPES is a genetic disorder presenting with blepharophimosis, ptosis of the eyelids, epicanthus inversus, and telecanthus. BPES… Expand

Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small… Expand

We report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and… Expand

describe what is, to our knowledge, the first familial case of pericentric inversion of chromosome 1 involving the whole of the… Expand