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Items: 1 to 20 of 72

1.

Skin markers of X-linked dominant chondrodysplasia punctata.

Happle R.

Arch Dermatol. 1979 Aug;115(8):931-2. No abstract available.

PMID:
464620
2.

Sex-linked chondrodysplasia punctata?

Happle R, Matthiass HH, Macher E.

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

PMID:
830452
3.

[Cutaneous signs and symptoms of X-linked chondrodysplasia punctata in man and mouse].

Happle R.

Ann Dermatol Venereol. 1983;110(10):803-6. French.

PMID:
6666923
4.
5.

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
6.
7.

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
8.

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
9.

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
10.

Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata.

Serville F.

J Med Genet. 1992 Feb;29(2):141. No abstract available.

12.

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
13.

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
14.

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

Happle R, Kästner H.

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

PMID:
521286
15.

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
16.

[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
17.

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
18.

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
19.

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
20.

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

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