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Items: 1 to 20 of 28

1.

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF.

Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.

PMID:
20949533
2.

Malformation syndromes caused by disorders of cholesterol synthesis.

Porter FD, Herman GE.

J Lipid Res. 2011 Jan;52(1):6-34. doi: 10.1194/jlr.R009548. Epub 2010 Oct 7. Review.

3.

Mutational spectrum of NSDHL in CHILD syndrome.

Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, Grzeschik KH.

J Med Genet. 2005 Feb;42(2):e17. No abstract available.

5.

Spinal deformity in chondrodysplasia punctata.

Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R.

Spine (Phila Pa 1976). 2002 Sep 15;27(18):1995-2002. Review.

PMID:
12634559
6.

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
7.

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.

Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM.

Am J Med Genet A. 2003 Jan 30;116A(3):255-60.

PMID:
12503102
9.

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
10.

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
11.

X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.

Herman GE.

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):357-73. Review.

PMID:
11111102
12.

Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase.

Happle R, König A, Grzeschik KH.

Am J Med Genet. 2000 Oct 2;94(4):341-3. No abstract available.

PMID:
11038450
13.

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
14.

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.

Has C, Bruckner-Tuderman L, Müller D, Floeth M, Folkers E, Donnai D, Traupe H.

Hum Mol Genet. 2000 Aug 12;9(13):1951-5.

PMID:
10942423
15.

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

König A, Happle R, Bornholdt D, Engel H, Grzeschik KH.

Am J Med Genet. 2000 Feb 14;90(4):339-46. Review.

PMID:
10710235
16.

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.

Grange DK, Kratz LE, Braverman NE, Kelley RI.

Am J Med Genet. 2000 Feb 14;90(4):328-35.

PMID:
10710233
17.
18.

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.

19.

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
20.

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.

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