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Results: 6

1.

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.

Sanchez-Garcia JF, de Die-Smulders CE, Weber JW, Jetten AG, Loneus WH, Hamers AJ, Engelen JJ.

Am J Med Genet. 2001 Apr 15;100(1):56-61. Review.

PMID:
11337750
[PubMed - indexed for MEDLINE]
2.

Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement.

Xu J, Chernos J, Roland B.

Am J Med Genet. 1997 Dec 19;73(3):327-9.

PMID:
9415693
[PubMed - indexed for MEDLINE]
3.

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

van den Ouweland AM, de Vries BB, Bakker PL, Deelen WH, de Graaff E, van Hemel JO, Oostra BA, Niermeijer MF, Halley DJ.

Am J Med Genet. 1994 Jul 15;51(4):482-5.

PMID:
7943024
[PubMed - indexed for MEDLINE]
4.

Partial trisomy 5q and partial monosomy 5q within the same family.

Lazjuk GI, Lurie IW, Kirillova IA, Zaletajev DV, Gurevich DB, Shved IA, Ostrovskaya TI.

Clin Genet. 1985 Aug;28(2):122-9.

PMID:
4042393
[PubMed - indexed for MEDLINE]
5.

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

Yip MY, Selikowitz M, Don N, Kovacic A, Purvis-Smith S, Lam-Po-Tang PR.

J Med Genet. 1987 Nov;24(11):709-12.

PMID:
3430549
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Fragile X testing in a diagnostic cytogenetics laboratory.

Voullaire LE, Webb GC, Leversha M.

J Med Genet. 1989 Jul;26(7):439-42.

PMID:
2473208
[PubMed - indexed for MEDLINE]
Free PMC Article

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