✦ LIBER ✦

X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism

✍ Scribed by C. Thauvin-Robinet; D. Lambert; G. Vaillant; P. Caillier; A. Donzel; V. Cusin; F. Huet; J.-R. Teyssier; F. Mugneret; L. Faivre

Book ID: 108667952
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 182 KB
Volume: 152
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2005.06367.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel point mutation in the STS gene in

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

✍ Winge, Mårten C.G.; Hoppe, Torborg; Liedén, Agne; Nordenskjöld, Magnus; Vahlquis 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 244 KB

A new method for the determination of st

A new method for the determination of steroid sulphatase activity in leukocytes in X-linked recessive ichthyosis

✍ A.C. JÖBSIS; W.P. de GROOT; A.E.F.H. MEIJER; C.M. VAN DER LOOS 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB

Cloning of a cDNA for Steroid Sulfatase:

Cloning of a cDNA for Steroid Sulfatase: Frequent Occurrence of Gene Deletions in Patients with Recessive X Chromosome-Linked Ichthyosis

✍ Jeannette M. Bonifas, Bernard J. Morley, Robert E. Oakey, Yuet Wai Kan and Ervin 📂 Article 📅 1987 🏛 National Academy of Sciences 🌐 English ⚖ 857 KB

Linkage studies in a family with X-linke

Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome

✍ P. Wieacker; K. E. Davies; B. Mevorah; H. H. Ropers 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 422 KB

Recently linkage has been described between the Duchenne muscular dystrophy (DMD) gene and a cloned DNA sequence, RC8, that detects restriction fragment length polymorphism and is derived from the distal short arm of the X chromosome. Positive lod scores between RC8 and Xg prompted us to examine the

Analysis of the STS gene in 40 patients

Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population

✍ J Cañueto; S Ciria; A Hernández-Martín; P Unamuno; R González-Sarmiento 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB

Excretion of (sulfated) steroids in the

Excretion of (sulfated) steroids in the urine and excretion of cholesterol sulfate in the feces of boys with recessive X-linked ichthyosis

✍ A. Marinkovic-Ilsen; A. Ende; B. G. Wolthers 📂 Article 📅 1984 🏛 Springer-Verlag 🌐 English ⚖ 446 KB

The excretion of sulfated steroids was investigated in the urine and feces of six boys aged 9 months to 7 years and 10 months who had recessive X-linked ichthyosis. Profiles of urinary total steroids as well as sulfated steroids were normal. Cholesterol sulfate excretion in the urine was not elevate