✦ LIBER ✦

X-linked familial exudative vitreoretinopathy (FEVR): Results of DNA analysis with candidate genes

✍ Scribed by Shastry, Barkur S. ;Trese, Michael T.

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 424 KB
Volume: 45
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320450128

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel missense mutatio

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy

✍ Barkur S. Shastry; James F. Hejtmancik; Michael T. Trese 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Nor

A family with X-linked anophthalmia: Exc

A family with X-linked anophthalmia: Exclusion of SOX3 as a candidate gene

✍ Anne Slavotinek; Stephen S. Lee; Steven P. Hamilton 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB 👁 2 views

## Abstract We report on a four‐generation family with X‐linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the __ANOP1__ locus. We sequenced the __SOX3__ gene at Xq27 as a candidate gene for

Four families (MRX43, MRX44, MRX45, MRX5

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

✍ Hamel, Ben C.J.; Smits, Arie P.T.; van den Helm, Bellinda; Smeets, Dominique F.C 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB 👁 1 views

Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the geneti