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Items: 1 to 20 of 289

2.

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
3.

X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia.

Andria G, Ballabio A, Parenti G.

Ann Neurol. 1987 Jul;22(1):98-9. No abstract available.

PMID:
3477126
4.
5.

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
6.

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
7.

More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia.

Andria G, Ballabio A, Parenti G.

Ann Neurol. 1988 Jan;23(1):103. No abstract available.

PMID:
3422798
8.
9.

Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome.

Martul P, Pineda J, Levilliers J, Vazquez JA, Rodriguez-Soriano J, Loridan L, Diaz-Perez JL.

Clin Endocrinol (Oxf). 1995 Feb;42(2):121-8.

PMID:
7704955
10.

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.

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.

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
13.

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

Crawfurd MA.

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

PMID:
6820437
14.

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
15.

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
16.

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Meitinger T, Heye B, Petit C, Levilliers J, Golla A, Moraine C, Dalla Piccola B, Sippell WG, Murken J, Ballabio A.

Am J Hum Genet. 1990 Oct;47(4):664-9. Erratum in: Am J Hum Genet 1990 Nov;47(5):883.

17.

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
18.

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
19.
20.

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.

Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PM.

Clin Endocrinol (Oxf). 2001 Aug;55(2):163-74.

PMID:
11531922

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