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Items: 1 to 20 of 95

1.
2.

[Genetic interpretation of linear skin abnormalities].

Happle R.

Hautarzt. 1978 Jul;29(7):357-63. German.

PMID:
567211
3.

X-chromosome inactivation: role in skin disease expression.

Happle R.

Acta Paediatr Suppl. 2006 Apr;95(451):16-23. Review.

PMID:
16720460
4.

Focal dermal hypoplasia syndrome.

Ginsburg LD, Sedano HO, Gorlin RJ.

Am J Roentgenol Radium Ther Nucl Med. 1970 Nov;110(3):561-71. No abstract available.

PMID:
4322140
6.

Metaphyseal dysplasia, anetoderma and optic atrophy: an autosomal recessive syndrome.

Temtamy SA, El-Meligh MR, Badrawy HS, Meguid MS, Safwat HM.

Birth Defects Orig Artic Ser. 1974;10(12):61-71. No abstract available.

PMID:
4461093
7.

Focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations.

Hardman CM, Garioch JJ, Eady RA, Fry L.

Clin Exp Dermatol. 1998 Nov;23(6):281-5.

PMID:
10233627
8.

Skin and bones. I.

Orlow SJ, Watsky KL, Bolognia JL.

J Am Acad Dermatol. 1991 Aug;25(2 Pt 1):205-21. Review.

PMID:
1918456
9.

[The clinical spectrum of focal dermal hypoplasia].

Skaria A, Feldmann R, Hauser C.

Hautarzt. 1995 Nov;46(11):779-84. German.

PMID:
8641884
10.

Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism.

Chen CP, Su YN, Chen M, Tsai FJ, Chen YY, Ma GC, Chang SP, Su JW, Chen YT, Chen WL, Chen LF, Wang W.

Taiwan J Obstet Gynecol. 2012 Mar;51(1):134-8. doi: 10.1016/j.tjog.2012.01.030. No abstract available.

11.

Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome.

Debeer P, De Borre L, De Smet L, Fryns JP.

Genet Couns. 2003;14(1):95-100.

PMID:
12725593
12.

[X-chromosome-linked hereditary dermatoses].

Happle R.

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

PMID:
6804414
13.

Frontometaphyseal dysplasia: autosomal dominant or X-linked?

Beighton P, Hamersma H.

J Med Genet. 1980 Feb;17(1):53-6.

14.

The tirsomy 8 syndrome: two additional mosaic cases.

Crandall BF, Bass HN, Marcy SM, Glovsky M, Fish CH.

J Med Genet. 1974 Dec;11(4):393-8. No abstract available.

15.

Osteopathia striata. A diagnostic osseous marker of focal dermal hypoplasia.

Howell JB, Reynolds J.

Trans St Johns Hosp Dermatol Soc. 1974;60(2):178-82. No abstract available.

PMID:
4467887
16.

Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.

Itin PH, Buechner SA.

Am J Med Genet. 1999 Aug 6;85(4):351-4. Review.

PMID:
10398258
17.

[Pyle's metaphyseal dysplasia].

Mabille JP, Benoit JP, Castera D.

Ann Radiol (Paris). 1973 Nov-Dec;16(11):723-30. French. No abstract available.

PMID:
4779476
18.

[Focal dermal hypoplasia with apocrine nevi and striation of bones (author's transl)].

Vakilzadeh F, Happle R, Peters P, Macher E.

Arch Dermatol Res. 1976 Aug 27;256(2):189-95. German.

PMID:
822789
19.

Mosaic manifestations of monogenic skin diseases.

Itin P, Burger B.

J Dtsch Dermatol Ges. 2009 Sep;7(9):744-48. doi: 10.1111/j.1610-0387.2009.07033.x. Review. English, German.

PMID:
19302403
20.

[Blaschkitis in adults].

Grosshans E, Marot L.

Ann Dermatol Venereol. 1990;117(1):9-15. Review. French.

PMID:
2181911

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