𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment

✍ Scribed by Knight, Helen M; Maclean, Alan; Irfan, Muhammad; Naeem, Farooq; Cass, Stephen; Pickard, Benjamin S; Muir, Walter J; Blackwood, Douglas H R; Ayub, Muhammad

Book ID
109847732
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
207 KB
Volume
16
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Homozygosity mapping through whole genom
Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder
✍ Coro PaisΓ‘n-Ruiz; Geoff Scopes; Philip Lee; Henry Houlden πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 197 KB πŸ‘ 1 views

## Abstract The use of genome wide genotyping arrays has the potential to assess entire groups of genetic disorders in one application and has begun to emerge as an aid to diagnosis in clinical practice. Recessive families may suffer from diseases because of homozygosity of recessive alleles; homoz

Homozygosity mapping in a family with mi
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3 - 8q22.1: Redefining a clinical entity
✍ Horn, Denise; KrebsovοΏ½, Alice; Kunze, JοΏ½rgen; Reis, AndrοΏ½ πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 67 KB πŸ‘ 2 views

A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition var