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Results: 1 to 20 of 214

1.

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
[PubMed - indexed for MEDLINE]
2.

Chondrodysplasia punctata with X;Y translocation.

Agematsu K, Koike K, Morosawa H, Nakahori Y, Nakagome Y, Akabane T.

Hum Genet. 1988 Sep;80(1):105-7.

PMID:
3417299
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.
8.

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.

Weil D, Portnoï MF, Levilliers J, Wang I, Mathieu M, Taillemite JL, Meier M, Boudailliez B, Petit C.

Hum Mol Genet. 1993 Nov;2(11):1853-6.

PMID:
8281147
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

Wulfsberg EA, Curtis J, Jayne CH.

Am J Med Genet. 1992 Jul 15;43(5):823-8. Review.

PMID:
1642270
[PubMed - indexed for MEDLINE]
11.

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.

Metaxotou C, Ikkos D, Panagiotopoulou P, Alevizaki M, Mavrou A, Tsenghi C, Matsaniotis N.

Clin Genet. 1983 Nov;24(5):380-3.

PMID:
6652948
[PubMed - indexed for MEDLINE]
12.

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO.

Am J Med Genet. 1999 Nov 19;87(2):189-94.

PMID:
10533035
[PubMed - indexed for MEDLINE]
13.

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.

Klink A, Meindl A, Hellebrand H, Rappold GA.

Hum Genet. 1994 Apr;93(4):463-6.

PMID:
8168818
[PubMed - indexed for MEDLINE]
14.

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, et al.

Proc Natl Acad Sci U S A. 1989 Dec;86(24):10001-5.

PMID:
2602357
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.

Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold GA.

Clin Genet. 2001 Feb;59(2):115-21.

PMID:
11260213
[PubMed - indexed for MEDLINE]
17.

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.

Van Maldergem L, Espeel M, Roels F, Petit C, Dacremont G, Wanders RJ, Verloes A, Gillerot Y.

Hum Genet. 1991 Oct;87(6):661-4.

PMID:
1937466
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
19.

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

Crawfurd MA.

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

PMID:
6820437
[PubMed - indexed for MEDLINE]
20.

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.

Petit C, Melki J, Levilliers J, Serville F, Weissenbach J, Maroteaux P.

Hum Genet. 1990 Jul;85(2):247-50.

PMID:
2370057
[PubMed - indexed for MEDLINE]

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