Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 7 unrelated patients at DNA and protein levels
Ballabio A, Carozo R, Parenti G et al. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 7 unrelated patients at DNA and protein levels. Genomics 1989 4 : 36 40.
Deletion pattern of steroid sulphatase gene in Japanese patients with X-linked ichthyosis
Saeki H, Kuwata S, Nakagawa H et al. Deletion pattern of steroid sulphatase gene in Japanese patients with X-linked ichthyosis. Br J Dermatol 1998 139 : 96 8.
Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
Aviram-Goldring A, Goldman B, Netanelov-Shapira I et al. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000 39 : 182 7.
Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population
Jimenez-Vaca AL, Valdes-Flores M, Rivera-Vega MR et al. Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. Mol Med 2001 7 : 845 9.
Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X-chromosome
Li XM, Yen PH, Shapiro LJ. Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X-chromosome. Nucleic Acids Res 1992 20 : 1117 22.
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
van Esch H, Hollanders K, Badisco L et al. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 2005 14 : 1795 803.
Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region
Ballabio A, Bardoni B, Guioli S et al. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics 1990 8 : 263 70.
An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome
Knowlton RG, Nelson CA, Brown A et al. An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome. Nucleic Acids Res 1989 17 : 423 37.
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Glaser RL, Jiang W, Boyadjiev SA et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000 66 : 768 77.
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene
Hu XY, Burghes AH, Bulman DE et al. Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am J Hum Genet 1989 44 : 855 63.
