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Results: 1 to 20 of 173

Similar articles for PubMed (Select 2750777)

1.

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

Bick D, Curry CJ, McGill JR, Schorderet DF, Bux RC, Moore CM.

Am J Med Genet. 1989 May;33(1):100-7.

PMID:
2750777
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.

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.

Bick DP, Schorderet DF, Price PA, Campbell L, Huff RW, Shapiro LJ, Moore CM.

Prenat Diagn. 1992 Jan;12(1):19-29.

PMID:
1557308
4.
6.

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
8.

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
10.

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
11.

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Meindl A, Hosenfeld D, Br├╝ckl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann HC, Swensson O, Bouloux P, Meitinger T.

J Med Genet. 1993 Oct;30(10):838-42.

12.

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
13.

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
14.

X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males.

Happle R.

Am J Med Genet. 1995 Jul 3;57(3):493. No abstract available.

PMID:
7677158
15.

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
16.
17.

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G.

Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. Epub 2007 May 21.

PMID:
17591464
18.

Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.

Ogata T, Goodfellow P, Petit C, Maroteaux P, Matsuo N.

Am J Med Genet. 1993 Jan 1;45(1):101-4.

PMID:
8418639
19.

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, et al.

Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8190-4.

20.

X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

Wilson CJ, Aftimos S.

Am J Med Genet. 1998 Jul 7;78(3):300-2.

PMID:
9677071
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