| 1 | STS, NLGN4, SSDI
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| X linked ichthyosis (steroid sulphatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
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| Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, McMahon R, Yates JR.
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| J Med Genet Med Genet. 2008 Apr 15. [Epub ahead of print] 2008
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| 2 | SSDI, VCX3A, STS
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| Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis.
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| Cuevas-Covarrubias SA, Gonz‡lez-Huerta LM.
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| Br J Dermatol 158(3):483-6. Epub 2007 Dec 11. 2008
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| 3 | VCX, VCX3A, SSDI
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| Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
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| Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G.
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| Hum Mol Genet 14(13):1795-803. Epub 2005 May 11. 2005
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| 4 | STS, SSDI
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| Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase.
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| Ghosh D.
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| Biochim Biophys Acta 1739(1):1-4. 2004
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| 5 | SSDI, STS
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| Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis.
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| Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA.
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| J Invest Dermatol 114(3):591-3. 2000
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| 6 | ABCG5, ABCG8, SSDI, STS
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| Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
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| Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH.
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| Science 290(5497):1771-5. 2000
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| 7 | SSDI, STS, VCX, VCX2, VCX3A, VCY, VCY1B
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| A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins.
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| Lahn BT, Page DC.
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| Hum Mol Genet 9(2):311-9. 2000
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| 8 | SSDI,STS
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| X-linked ichthyosis: an update.
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| Hernandez-Martin A, Gonzalez-Sarmiento R, De Unamuno P.
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| Br J Dermatol 141(4):617-27. Review. 1999
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| 9 | SSDI,STS
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| Most sporadic cases of X-linked ichthyosis are not de novo mutations.
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| Cuevas-Covarrubias SA, Valdes-Flores M, Orozco Orozco E, Diaz-Zagoya JC, Kofman-Alfaro SH.
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| Acta Derm Venereol 79(2):143-4. 1999
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| 10 | SSDI, STS
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| Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
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| Brown KA, al-Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF.
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| J Med Genet 34(8):685-7. 1997
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| 11 | SSDI, STS
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| A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis.
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| Morita E, Katoh O, Shinoda S, Hiragun T, Tanaka T, Kameyoshi Y, Yamamoto S.
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| J Invest Dermatol 109(2):244-5. 1997
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| 12 | SSDI, STS
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| Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
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| Alperin ES, Shapiro LJ.
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| J Biol Chem 272(33):20756-63. 1997
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| 13 | SSDI, STS
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| Characterization of the promoter region of human steroid sulfatase : a gene which escapes X inactivation.
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| Li XM, et al.
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| Somat Cell Mol Genet 22 : 105-117. 1996
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| 14 | SSDI, STS
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| X-linked ichthyosis without STS deficiency : clinical, genetical and molecular studies.
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| Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G.
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| Am J Med Genet 59 : 143-148. 1995
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| 15 | SSDI, STS
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| Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.
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| Yen PH, et al.
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| Hum Mutat 4 : 76-78. 1994
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| 16 | DELXPM,SSDI,STS
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| A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects.
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| Paige DG, et al.
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| Br J Dermatol 131 : 622-629. 1994
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| 17 | DELXPM,KAL1,SSDI,STS
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| A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm.
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| Lee WC, et al.
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| Genomics 18 : 1-6. 1993
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| 18 | SSDI, STS
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| Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene.
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| Carrozzo R, et al.
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| Genomics 12 : 7-12. 1992
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| 19 | SSDI, STS
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| Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.
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| Basler E, et al.
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| Am J Hum Genet 50 : 483-491. 1992
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| 20 | SSDI, STS
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| Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.
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| Bernatowicz LF, et al.
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| Genomics 13 : 892-893. 1992
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| 21 | SSDI, STS
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| An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus.
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| van Zandvoort PM, et al.
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| Hum Genet 84 : 489-490. 1990
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| 22 | SSDI, ARSC2, STS
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| The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation.
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| Chang PL, et al.
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| Am J Hum Genet 46 : 729-737. 1990
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| 23 | SSDI, STS
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| A long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus.
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| Li XM, et al.
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| Nucleic Acids Res 18 : 2783-2788. 1990
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| 24 | SSDI, STS
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| Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.
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| Yen PH, et al.
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| Cell 61 : 603-610. 1990
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| 25 | SSDI, STS
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| Long-range physical mapping around the human steroid sulfatase locus.
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| Ross MT, et al.
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| Genomics 6 : 528-539. 1990
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| 26 | DXS278,OA1,SSDI,STS
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| Partial deletions of a sequence family (DXS278) and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis.
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| Schnur RE, et al.
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| Genomics 8 : 255-262. 1990
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| 27 | SSDI, STS
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| Identification of point mutations in three patients with steroid sulfatase deficiency.
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| Basler E, et al.
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| Am J Hum Genet 47 : A151. 1990
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| 28 | SSDI, STS
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| XmnI polymorphism of the human STS gene.
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| Wirth B, et al.
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| Nucleic Acids Res 17 : 3326. 1989
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| 29 | SSDI, CDPX1, HHG, KAL1, STS
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| Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
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| Bick D, et al.
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| Am J Med Genet 33 : 100-107. 1989
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| 30 | ARSE,CDPX1,DELXPM,KAL1,MRX2,OA1,SHOX,SSDI,STS
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| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
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| Ballabio A, et al.
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| Proc Natl Acad Sci U S A 86 : 10001-10005. 1989
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| 31 | SSDI, STS
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| Molecular studies of deletions at the human steroid sulfatase locus.
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| Shapiro LJ, et al.
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| Proc Natl Acad Sci U S A 86 : 8477-8481. 1989
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| 32 | SSDI, OA1, STS
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| An Xp22 microdeletion associated with ocular albinism and ichthyosis : approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.
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| Schnur RE, et al.
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| Am J Hum Genet 45 : 706-720. 1989
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| 33 | SSDI, STS, STSP1
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| The human X-linked steroid sulfatase gene and a Y-encoded pseudogene : evidence for an inversion of the Y chromosome during primate evolution.
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| Yen PH, et al.
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| Cell 55 : 1123-1135. 1988
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| 34 | SSDI, STS
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| X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis).
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| Cooke A, et al.
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| Hum Genet 79 : 49-52. 1988
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| 35 | CDPX1,DELXPM,SSDI,STS
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| X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation : DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
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| Ballabio A, et al.
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| Clin Genet 34 : 31-37. 1988
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| 36 | SSDI, STS
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| Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).
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| Wirth B, et al.
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| Hum Genet 80 : 191-192. 1988
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| 37 | SSDI, STS
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| Linkage of steroid sulphatase to distal Xp markers.
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| Yates JRW, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 724. 1987
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| 38 | SSDI, STS, STSP1
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| Cloning and expression of steroid sulfatase cDNA and the frequent occurence of deletions in STS deficiency : implications for X-Y interchange.
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| Yen PH, et al.
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| Cell 49 : 443-454. 1987
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| 39 | SSDI, STS
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| Fine mapping of the STS gene and the distal Xp.
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| Wirth B, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 718. 1987
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| 40 | SSDI, STS
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| Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase.
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| Conary JT, et al.
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| Biochem Biophys Res Commun 144 : 1010-1017. 1987
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| 41 | SSDI, STS
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| Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).
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| Gillard EF, et al.
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| Nucleic Acids Res 15 : 3977-3985. 1987
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| 42 | SSDI, STS
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| Isolation and characterization of a steroid sulfatase cDNA clone : genomic deletions in patients with X-chromosome-linked ichthyosis.
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| Ballabio A, et al.
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| Proc Natl Acad Sci U S A 84 : 4519-4523. 1987
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| 43 | SSDI, DXS237, STS, XG
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| Multipoint linkage analysis of steroid sulfatase (X linked ichthyosis) and distal Xp markers.
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| Yates JRW, et al.
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| Genomics 1 : 52-59. 1987
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| 44 | DELXPM,HHG,KAL1,SSDI,STS
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| X-linked ichthyosis, hypogonadotropic hypogonadism, and hyposmia in two male siblings.
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| Fidone GS, et al.
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| Am J Hum Genet 41 : A58. 1987
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| 45 | STS, DELXPM, KAL1, SSDI, XG
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| 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.
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| Ballabio A, et al.
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| Hum Genet 72 : 237-240. 1986
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