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Items: 7

1.

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

Isidor B, Winer N, Joubert M, Boisseau P, Le Caignec C, Bocéno M, Fallet C, David A, Rival JM.

Eur J Med Genet. 2008 May-Jun;51(3):231-8. doi: 10.1016/j.ejmg.2007.12.010. Epub 2008 Jan 12.

PMID:
18282818
2.

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T.

Hum Genet. 1997 Dec;101(3):255-62.

PMID:
9439652
4.

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.

McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH Jr, Pearson PL, Antonarakis SE.

Am J Med Genet. 1993 Jul 1;46(6):647-51.

PMID:
8362906
5.

18q- and 18q+ mosaicism in a mentally retarded boy.

Ausems MG, Bhola SL, Post-Blok CA, Hennekam RC, de France HF.

Am J Med Genet. 1994 Nov 15;53(3):296-9.

PMID:
7856666
6.

Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.

Warburg M, Sjö O, Tranebjaerg L, Fledelius HC.

Am J Med Genet. 1991 Jun 1;39(3):288-93.

PMID:
1867279
7.

Partial trisomy 20p derived from a t(18;20) translocation.

Taylor KM, Wolfinger HL, Brown MG, Chadwick DL, Francke U.

Hum Genet. 1976 Oct 28;34(2):155-62.

PMID:
1002139

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