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Items: 10

1.

Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation.

Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S, Seino Y.

Am J Med Genet. 1995 Mar 13;56(1):31-4. Review.

PMID:
7747782
2.

Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.

Schafer AJ, Foster JW, Kwok C, Weller PA, Guioli S, Goodfellow PN.

Ann N Y Acad Sci. 1996 Jun 8;785:137-49. Review. No abstract available.

PMID:
8702120
3.

XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.

McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL.

Am J Med Genet. 1997 Dec 19;73(3):321-6. Review.

4.

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

Tommerup N, van der Hagen CB, Heiberg A.

Am J Med Genet. 1992 Sep 15;44(2):237-41. Review.

PMID:
1456298
5.

Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).

Dimitrov B, Devriendt K, Maas NM, Vermeesch JR, Zahariev D, Avdjieva D, Popova A, Fryns JP, Simeonov E.

Genet Couns. 2004;15(2):191-7. Review. Erratum in: Genet Couns. 2004;15(3):395. Popova, DAA [corrected to Avdjieva, D]; Popova, DAA [ corrected to Popova, A].

PMID:
15287419
8.

De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.

Legare JM, Sekhon GS, Laxova R.

Am J Med Genet. 1994 Nov 15;53(3):216-21. Review.

PMID:
7856655
9.

A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23).

Fujita M, Flori E, Lemaire F, Casanova R, Astruc D.

Clin Genet. 1994 Jun;45(6):305-7. Review.

PMID:
7923861

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