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Items: 1 to 20 of 37

1.

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
2.

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
3.

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

Cañueto J, Girós M, González-Sarmiento R.

Biochim Biophys Acta. 2014 Mar;1841(3):336-44. doi: 10.1016/j.bbalip.2013.09.002. Epub 2013 Sep 11. Review.

PMID:
24036494
4.

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
5.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R.

Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Review.

PMID:
22121851
6.

Genetic defects in postsqualene cholesterol biosynthesis.

Moebius FF, Fitzky BU, Glossmann H.

Trends Endocrinol Metab. 2000 Apr;11(3):106-14. Review. Erratum in: Trends Endocrinol Metab 2000 May-Jun;11(4):150.

PMID:
10707051
8.

Skewed X inactivation in X-linked disorders.

Van den Veyver IB.

Semin Reprod Med. 2001 Jun;19(2):183-91. Review.

PMID:
11480916
9.

Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

Arnold AW, Bruckner-Tuderman L, Has C, Happle R.

Br J Dermatol. 2012 Jun;166(6):1309-13. doi: 10.1111/j.1365-2133.2012.10808.x. Epub 2012 Mar 27. Review.

PMID:
22229330
10.

Lyonization and the lines of Blaschko.

Happle R.

Hum Genet. 1985;70(3):200-6. Review.

PMID:
3894210
11.

Chondrodysplasia Punctata 2, X-Linked.

Dempsey MA, Tan C, Herman GE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2011 May 31.

13.

Mosaicism in human skin. Understanding the patterns and mechanisms.

Happle R.

Arch Dermatol. 1993 Nov;129(11):1460-70. Review.

PMID:
8239703
14.

A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.

Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF.

Pediatr Dev Pathol. 2007 Mar-Apr;10(2):142-8. Review.

PMID:
17378690
15.

Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.

Crawfurd MA.

J Inherit Metab Dis. 1982;5(3):153-63. Review.

PMID:
6820437
16.

[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].

Omobono E, Goetsch W.

Minerva Pediatr. 1993 Mar;45(3):117-21. Review. Italian.

PMID:
8341225
17.

[X-chromosome-linked hereditary dermatoses].

Happle R.

Hautarzt. 1982 Feb;33(2):73-81. Review. German.

PMID:
6804414
18.

Genodermatoses in women.

Mevorah B, Politi Y.

Clin Dermatol. 1997 Jan-Feb;15(1):17-29. Review. No abstract available.

PMID:
9034652
19.

Genetic disorders of cholesterol biosynthesis in mice and humans.

Nwokoro NA, Wassif CA, Porter FD.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. Review.

PMID:
11592808
20.

Airway manifestations of chondrodysplasia punctata.

Seguin JH, Baugh RF, McIntee RA.

Int J Pediatr Otorhinolaryngol. 1993 May;27(1):85-90. Review.

PMID:
8314671

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