Kashmiri population in the northeast of Pakistan has strong historical, cultural and linguistic affinities with the neighbouring populations of upper Punjab and Potohar region of Pakistan. However, the study of consanguineous unions, which are customarily practised in many populations of Pakistan, revealed marked differences between the Kashmiris and other populations of northern Pakistan with ...

Families with inherited visual impairment were identified and examined from January 2000 to December 2005 and given a clinical diagnosis. Known genes and loci were screened for mutations or linkage at Institute of Ophthalmology and Neurosciences, University of Leeds, in order to provide molecular confirmation. Inherited retinal disease was the most common cause of inherited visual impairment in...

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

perrault's syndrome (p.s.) is rare. the combination of gonadal dysgenesis and hearing loss was accompanied by 46,xxkaryotype in three sisters with parental consanguineous marriage. genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence ipj-bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization (pish), with appl...

As the brain of early humans expanded, they gained increasing abilities of considering cooperative tasks – finally including reproduction. The subsequent, probably convergent evolution of religious beliefs and related behaviors such as burials and offerings among Homo sapiens and among Homo neanderthalensis illustrates that religious abilities evolved as a logical consequence: perceived superna...

The type status is described of 57 taxa from the superfamily Orthalicoidea in the collection of the Brussels museum. Two new species are described: Stenostylus perturbatussp. n., and Suniellus adrianisp. n. New lectotypes are designated for Bulimulus (Naesiotus) amastroides Ancey, 1887; Bulimulus blanfordianus Ancey, 1903; Bulimulus montivagus chacoensis Ancey, 1897; Bulimus coloratus Nyst, 184...