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Similar articles for PubMed (Select 2527874)

1.

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
2.

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.

3.
4.

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
6.

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
7.

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
8.

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

Hellenbroich Y, Grzeschik KH, Krapp M, Jarutat T, Lehrmann-Petersen C, Buiting K, Gillessen-Kaesbach G.

Eur J Med Genet. 2007 Sep-Oct;50(5):392-8. Epub 2007 Jun 3.

PMID:
17625999
9.

Conradi-Hünermann-Happle syndrome.

Hartman RD, Molho-Pessach V, Schaffer JV.

Dermatol Online J. 2010 Nov 15;16(11):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.

[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
12.

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

Happle R, Kästner H.

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

PMID:
521286
13.

Diffuse erythema and dry scales in a female infant. X-linked dominant Conradi-Hunermann-Happle (CHH) syndrome.

Ali L, Ricotti C, Li L, Calame A, Brouha B, Helm T, Cockerell C.

Am J Dermatopathol. 2011 May;33(3):316, 331. doi: 10.1097/DAD.0b013e3181dc8130. No abstract available.

PMID:
20802302
14.

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
15.

Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.

Ozyurt K, Subasioglu A, Ozturk P, Inci R, Ozkan F, Bueno E, Cañueto J, González Sarmiento R.

Indian J Dermatol. 2015 Mar-Apr;60(2):216. doi: 10.4103/0019-5154.152570.

17.

Conradi-Hünermann syndrome with unilateral distribution.

Corbí MR, Conejo-Mir JS, Linares M, Jiménez G, Rodríguez Cañas T, Navarrete M.

Pediatr Dermatol. 1998 Jul-Aug;15(4):299-303. Review.

PMID:
9720698
18.

Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.

Lindenthal B, Repgen R, Emons D, Lentze MJ, von Bergmann K, Lütjohann D.

Klin Padiatr. 2004 Mar-Apr;216(2):67-9.

PMID:
15106076
19.

Chondrodysplasia punctata. Conradi-Hünermann syndrome.

Edidin DV, Esterly NB, Bamzai AK, Fretzin DF.

Arch Dermatol. 1977 Oct;113(10):1431-4.

PMID:
911172
20.

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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