✦ LIBER ✦

Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations

✍ Scribed by H. H. Ropers; B. Migl; J. Zimmer; M. Fraccaro; P. P. Maraschio; A. Westerveld

Publisher: Springer
Year: 1981
Tongue: English
Weight: 345 KB
Volume: 57
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00281683

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Expression of RPS4X in fibroblasts from

Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome

✍ Walter Just; Claudia Geerkens; Karsten R. Held; Walther Vogel 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 329 KB

A series of fibroblasts from patients with numerical or structural aberrations of the X chromosome were scored for the amount of mRNA of ribosomal protein S4 (RPS4X). Haplo-insufficiency of this gene has been reported previously to be a possible cause of Turner syndrome. Our results show that the tr

Numerical and structural chromosome aber

Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum

✍ Eldon J. Gardner; Scott W. Rogers; Scott Woodward 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 514 KB

Deletion of the distal short arm of the

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency

✍ Ballabio, A. ;Zollo, M. ;Carrozzo, R. ;Caiulo, A. ;Zuffardi, O. ;Cascioli, C. F. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 397 KB 👁 2 views

## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another

Effect of caffeine in G2on X-ray-induced

Effect of caffeine in G2on X-ray-induced chromosomal aberrations and mitotic inhibition in ataxia telangiectasia fibroblast and lymphoblastoid cells

✍ K. Hansson; A. T. Natarajan; B. A. Kihlman 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 627 KB

The effect of post-treatments with caffeine in G2 on the frequency of X-ray-induced chromatid aberrations was studied in normal and ataxia telangiectasia (A-T) fibroblast and lymphoblastoid cells. Caffeine was found to potentiate the X-ray-induced aberration yield in both normal fibroblast and lymph

Suppression of spontaneous and mitomycin

Suppression of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi's anemia by cell fusion with normal human fibroblasts

✍ M. C. Yoshida 📂 Article 📅 1980 🏛 Springer 🌐 English ⚖ 653 KB

Determining the origins and the structur

Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, +mar by use of chromosome-specific DNA probes

✍ Lin, C. C. ;Meyne, Juliane ;Sasi, Ramakrishnan ;Bowen, Peter ;Unger, T. ;Tainaka 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 1016 KB