✦ LIBER ✦

Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers

✍ Scribed by Robert L. Nussbaum; Richard Alan Lewis; John G. Lesko; Robert Ferrell

Publisher: Springer
Year: 1985
Tongue: English
Weight: 692 KB
Volume: 70
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00389458

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

X-linked retinitis pigmentosa: linkage w

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

✍ Ursula Friedrich; Mette Warburg; Peter Wieacker; Thomas F. Wienker; Andreas Gal; 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 543 KB

A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism

Linkage of X-linked retinitis pigmentosa

Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27β (DXS255)

✍ Thomas Meitinger; Neil A. Fraser; Birgit Lorenz; Eberhart Zrenner; Jan Murken; I 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 437 KB

X-linked ichthyosis, due to steroid sulp

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

✍ A. Ballabio; G. Parenti; P. Tippett; C. Mondello; S. Maio; A. Tenore; G. Andria 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 486 KB

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome,