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Items: 5

1.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
2.

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP.

J Med Genet. 2004 Apr;41(4):241-8.

3.
4.

Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)].

Reese PD, Tuck-Muller CM, Maumenee IH.

Arch Ophthalmol. 1987 Oct;105(10):1382-4.

PMID:
3662912
5.

De novo ring chromosome 3: a new case with a mild phenotype.

McKinley M, Colley A, Sinclair P, Donnai D, Andrews T.

J Med Genet. 1991 Aug;28(8):536-8.

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