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Items: 1 to 20 of 175

1.

Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase.

Conary JT, Lorkowski G, Schmidt B, Pohlmann R, Nagel G, Meyer HE, Krentler C, Cully J, Hasilik A, von Figura K.

Biochem Biophys Res Commun. 1987 Apr 29;144(2):1010-7.

PMID:
3034252
2.

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.

Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ.

Cell. 1987 May 22;49(4):443-54.

PMID:
3032454
3.

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Craig I, Rocchi M, Romeo G, et al.

Proc Natl Acad Sci U S A. 1987 Jul;84(13):4519-23.

4.

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis.

Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH Jr.

Proc Natl Acad Sci U S A. 1987 Dec;84(24):9248-51.

5.

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G.

Hum Genet. 1985;70(4):315-7.

PMID:
3860470
6.
7.

Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers.

Yates JR, Goudie DR, Gillard EF, Aitken DA, Affara NA, Clayton JF, Tippett PA, Ferguson-Smith MA.

Genomics. 1987 Sep;1(1):52-9.

PMID:
3478297
8.

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

Gillard EF, Affara NA, Yates JR, Goudie DR, Lambert J, Aitken DA, Ferguson-Smith MA.

Nucleic Acids Res. 1987 May 26;15(10):3977-85.

9.

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G.

Hum Genet. 1987 Dec;77(4):338-41.

PMID:
3480263
10.

X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.

Jöbsis AC, De Groot WP, Tigges AJ, De Bruijn HW, Rijken Y, Meijer AE, Marinkovic-Ilsen A.

Am J Pathol. 1980 May;99(2):279-89.

11.

Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels.

Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al.

Genomics. 1989 Jan;4(1):36-40.

PMID:
2644167
12.

Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).

Wirth B, Herrmann FH, Neugebauer M, Gillard EF, Wulff K, Stein C, von Figura K, Ferguson-Smith MA, Gal A.

Hum Genet. 1988 Oct;80(2):191-2.

PMID:
3169744
13.

Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts.

Bedin M, Weil D, Fournier T, Cedard L, Frezal J.

Hum Genet. 1981;59(3):256-8.

PMID:
6948770
14.

Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.

Crawfurd MA.

J Inherit Metab Dis. 1982;5(3):153-63. Review.

PMID:
6820437
15.

Cloning and expression of human steroid-sulfatase. Membrane topology, glycosylation, and subcellular distribution in BHK-21 cells.

Stein C, Hille A, Seidel J, Rijnbout S, Waheed A, Schmidt B, Geuze H, von Figura K.

J Biol Chem. 1989 Aug 15;264(23):13865-72.

16.

[Microsomal sulfatase deficiency in X chromosome-linked ichthyosis].

Meyer JC, Schnyder UW.

Hautarzt. 1982 Feb;33(2):82-8. German.

PMID:
6951821
17.

Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation.

Lykkesfeldt G, Lykkesfeldt AE, Skakkebaek NE.

Hum Genet. 1984;65(4):355-7.

PMID:
6582028
18.

X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis).

Cooke A, Gillard EF, Yates JR, Mitchell MJ, Aitken DA, Weir DM, Affara NA, Ferguson-Smith MA.

Hum Genet. 1988 May;79(1):49-52.

PMID:
3163320
19.

Placental steroid deficiency: association with arylsulfatase A deficiency.

Vidgoff J, Buxman MM, Shapiro LJ, Dimond RL, Wilson TG, Hepburn CA, Tabei T, Heinrichs WR.

Am J Hum Genet. 1982 May;34(3):434-43.

20.

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