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Similar articles for PubMed (Select 7677158)

1.

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
2.
3.

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
4.

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Traupe H, Müller D, Atherton D, Kalter DC, Cremers FP, van Oost BA, Ropers HH.

Hum Genet. 1992 Aug;89(6):659-65.

PMID:
1355069
5.

X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones.

Gobello T, Mazzanti C, Fileccia P, Didona B, Papi M, Atzori F, Cavalieri R.

Dermatology. 1995;191(4):323-7.

PMID:
8573932
6.

XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)

Sutphen R, Amar MJ, Kousseff BG, Toomey KE.

Am J Med Genet. 1995 Jul 3;57(3):489-92.

PMID:
7677157
7.
8.

Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism.

Traupe H, Vetter U, Happle R, Fisher LW, Cremers FP, Landy SJ, Pankau R, Ropers HH.

Hum Genet. 1993 Mar;91(1):89-90. No abstract available.

PMID:
8454295
9.

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
10.

What syndrome is this? X-linked dominant chondrodysplasia punctata (Happle).

Jacyk WK.

Pediatr Dermatol. 2001 Sep-Oct;18(5):442-4. No abstract available.

PMID:
11737694
11.

Lethal course of X-linked dominant chondrodysplasia punctata in a male newborn.

De Raeve L, Song M, De Dobbeleer G, Spehl M, Van Regemorter N.

Dermatologica. 1989;178(3):167-70.

PMID:
2566519
12.

The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-Hünermann syndrome).

Krafchik BR.

Pediatr Dermatol. 1989 Jun;6(2):150-1. No abstract available.

PMID:
2748475
13.

Langerhans-cell degeneration in X-linked dominant ichthyosis. A quantitative and ultrastructural study.

Kolde G, Happle R.

Arch Dermatol Res. 1985;277(3):245-7. No abstract available.

PMID:
4015187
14.

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
15.
16.

Homologous genes for X-linked chondrodysplasia punctata in man and mouse.

Happle R, Phillips RJ, Roessner A, Jünemann G.

Hum Genet. 1983;63(1):24-7.

PMID:
6682087
17.

Radiological case of the month. Dominant X-linked chondrodysplasia punctata.

Kozlowski K, Bates EH, Young LW, Wood BP.

Am J Dis Child. 1988 Nov;142(11):1233. No abstract available.

PMID:
3177333
18.

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
19.

Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.

Manzke H, Christophers E, Wiedemann HR.

Clin Genet. 1980 Feb;17(2):97-107.

PMID:
7363504
20.
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