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Items: 7

1.

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

Moore JW, Hyman S, Antonarakis SE, Mules EH, Thomas GH.

Hum Genet. 1986 Apr;72(4):297-302.

PMID:
3754537
2.

Familial translocation t(9;16).

Dowman C, Lockwood D, Allanson J.

J Med Genet. 1989 Aug;26(8):525-8. Review.

3.

Microdeletion syndromes, balanced translocations, and gene mapping.

Schinzel A.

J Med Genet. 1988 Jul;25(7):454-62. Review.

4.

Interchromosomal insertions. Identification of five cases and a review.

Van Hemel JO, Eussen HJ.

Hum Genet. 2000 Nov;107(5):415-32. Review.

PMID:
11140939
5.

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O.

Am J Med Genet A. 2003 Mar 15;117A(3):236-44. Review.

PMID:
12599186
6.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
7.

[Congenital aniridia and ocular hypertension. Apropos of 8 cases and review of the literature].

Grange JD, Paris G.

Ophtalmologie. 1988 Jul-Sep;2(3):205-8. Review. French. No abstract available.

PMID:
3073343

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