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Items: 1 to 20 of 243

1.

Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter.

Ross JB, Allderdice PW, Shapiro LJ, Aveling J, Eales BA, Simms D Jr.

Arch Dermatol. 1985 Dec;121(12):1524-8.

PMID:
3864397
2.

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.

Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, Ropers HH.

Hum Genet. 1980;54(2):205-6.

PMID:
6930361
3.

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.

Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G.

Clin Genet. 1988 Jul;34(1):31-7.

PMID:
3165728
5.

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.

6.

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
7.

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
8.

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
9.
10.

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 CF, Viggiano D, Strisciuglio P.

Am J Med Genet. 1991 Nov 1;41(2):184-7.

PMID:
1785631
11.

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
12.

X-linked recessive ichthyosis. Reinvestigation of a family first described in 1928.

Schlammadinger J, Meyer JC, Vajda I, Szabó G.

Dermatologica. 1987;175(5):217-23.

PMID:
3479355
13.

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.

14.

The effect of steroid sulphatase on stratum corneum shedding in patients with X-linked ichthyosis.

Yoshiike T, Matsui T, Kimura T, Yamada H, Ogawa H.

Br J Dermatol. 1985 Dec;113(6):641-3.

PMID:
3868421
15.

Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.

Nishimura S, Masuda H, Matsumoto T, Sakura N, Matsumoto T, Ueda K.

Am J Med Genet. 1991 Sep 1;40(3):260-3.

PMID:
1951426
16.

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F.

J Med Genet. 2000 Aug;37(8):600-2.

17.

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

Curry CJ, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ.

N Engl J Med. 1984 Oct 18;311(16):1010-5.

PMID:
6482910
18.

Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome.

Shapiro LJ.

Adv Hum Genet. 1985;14:331-81, 388-9. Review. No abstract available.

PMID:
2859745
19.

Steroid sulfatase deficiency and X-linked ichthyosis.

Shapiro LJ.

Clin Biochem. 1979 Dec;12(6):205. No abstract available.

PMID:
294955
20.

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.

Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.

Epilepsia. 2003 Dec;44(12):1529-35.

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