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Items: 1 to 20 of 33

1.

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.

Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.

Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. doi: 10.1684/ejd.2008.0433. Epub 2008 Jun 23.

PMID:
18573709
2.

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

Herman GE.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R75-88. Review.

PMID:
12668600
3.

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ, Metzenberg AB.

Genet Med. 2002 Nov-Dec;4(6):434-8.

PMID:
12509714
4.

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.

Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S.

Hum Genet. 2003 Jan;112(1):78-83. Epub 2002 Oct 24.

PMID:
12483303
5.

Lethal non-rhizomelic dysplasia epiphysealis punctata.

Kozlowski K, Godlonton J, Gardner J, Beighton P.

Clin Dysmorphol. 2002 Jul;11(3):203-8.

PMID:
12072802
6.

Comment on Traupe's tribute to Rudolf Happle.

Sheffield LJ.

Am J Med Genet. 2001 Jul 1;101(3):283. No abstract available.

PMID:
11424147
7.

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
8.
9.

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D.

Nat Genet. 1999 Jul;22(3):291-4.

10.

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
11.

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.

Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker PR, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SD, Herman GE.

Nat Genet. 1999 Jun;22(2):182-7.

PMID:
10369263
12.

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.

Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS.

Am J Med Genet. 1999 Mar 19;83(3):213-9. Erratum in: Am J Med Genet 1999 Jun 4;84(4):387.

13.

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.

Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S.

Nat Genet. 1997 Sep;17(1):92-5.

PMID:
9288105
14.

Chromosomal mapping and developmental study of Tattered-Hokkaido (Tdho).

Seo KW, Miyoshi H, Kon Y, Watanabe T.

Mamm Genome. 1997 Aug;8(8):578-80.

PMID:
9250864
15.

The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.

Uwechue IC, Cooper BF, Goble C, Hacker T, Blair HJ, Burke DT, Herman G, Boyd Y.

Genomics. 1996 Oct 15;37(2):238-41.

PMID:
8921395
16.

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
17.

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
18.

Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata.

Bruch D, Megahed M, Majewski F, Ruzicka T.

J Am Acad Dermatol. 1995 Aug;33(2 Pt 2):356-60.

PMID:
7615885
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

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