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Results: 1 to 20 of 332

1.

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
[PubMed - indexed for MEDLINE]
2.

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

Happle R.

Hum Genet. 1979;53(1):65-73.

PMID:
535904
[PubMed - indexed for MEDLINE]
3.

[X-linked dominant chondrodysplasia punctata: an osteocutaneous syndrome].

Happle R, Kästner H.

Hautarzt. 1979 Nov;30(11):590-4. German.

PMID:
521286
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

X-linked dominant chondrodysplasia punctata: a case report and family studies.

Mueller RF, Crowle PM, Jones RA, Davison BC.

Am J Med Genet. 1985 Jan;20(1):137-44.

PMID:
4038582
[PubMed - indexed for MEDLINE]
6.

Histologic and ultrastructural features of the ichthyotic skin in X-linked dominant chondrodysplasia punctata.

Kolde G, Happle R.

Acta Derm Venereol. 1984;64(5):389-94.

PMID:
6208716
[PubMed - indexed for MEDLINE]
7.

Sex-linked chondrodysplasia punctata?

Happle R, Matthiass HH, Macher E.

Clin Genet. 1977 Jan;11(1):73-6.

PMID:
830452
[PubMed - indexed for MEDLINE]
8.

Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.

Kolb-Mäurer A, Grzeschik KH, Haas D, Bröcker EB, Hamm H.

Acta Derm Venereol. 2008;88(1):47-51. doi: 10.2340/00015555-0337.

PMID:
18176751
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

[X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].

Tronnier M, Froster-Iskenius UG, Schmeller W, Happle R, Wolff HH.

Hautarzt. 1992 Apr;43(4):221-5. German.

PMID:
1597371
[PubMed - indexed for MEDLINE]
11.

[X-chromosome dominant chondrodysplasia punctata (Happle syndrome). Lyonization of the eyelashes?].

Wollina U, Vogel H.

Hautarzt. 1994 Jan;45(1):42-4. German.

PMID:
8150617
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.

Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE.

Nat Genet. 1999 Jul;22(3):286-90.

PMID:
10391218
[PubMed - indexed for MEDLINE]
14.

[X-linked dominant chondrodysplasia punctata (author's transl)].

Happle R.

Monatsschr Kinderheilkd. 1980 Apr;128(4):203-7. German.

PMID:
7366591
[PubMed - indexed for MEDLINE]
15.

X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma.

Kalter DC, Atherton DJ, Clayton PT.

J Am Acad Dermatol. 1989 Aug;21(2 Pt 1):248-56.

PMID:
2527874
[PubMed - indexed for MEDLINE]
16.

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.

Am J Med Genet. 2000 Oct 2;94(4):300-5. Review.

PMID:
11038443
[PubMed - indexed for MEDLINE]
17.
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taïeb A, Lacombe D.

Arch Dermatol. 2011 Sep;147(9):1073-6. doi: 10.1001/archdermatol.2011.230.

PMID:
21931045
[PubMed - indexed for MEDLINE]

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