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Items: 8

1.

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome.

Tuschl K, Fritz B, Herle M, Fonatsch C, Bodamer OA.

Am J Med Genet A. 2007 Sep 1;143A(17):2065-9. Review. No abstract available.

PMID:
17676599
2.

Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.

Kozma C, Slavotinek AM, Meck JM.

Am J Med Genet A. 2004 Jan 15;124A(2):118-28.

PMID:
14699608
3.

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL.

Am J Med Genet A. 2003 Mar 15;117A(3):251-4.

PMID:
12599188
4.

A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization.

Gibson LH, McGrath J, Yang-Feng TL.

Am J Med Genet. 1997 Feb 11;68(4):417-20.

PMID:
9021014
5.

Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization.

Sullivan BA, Leana-Cox J, Schwartz S.

Am J Med Genet. 1993 Aug 15;47(2):223-30.

PMID:
8213910
6.

Prometaphase chromosome analysis as a routine diagnostic technique.

Barnes IC, Maltby EL.

Clin Genet. 1986 May;29(5):378-83.

PMID:
3742844
7.

Chromosome deletion 1q42-43.

Watson MS, Gargus JJ, Blakemore KJ, Katz SN, Breg WR.

Am J Med Genet. 1986 May;24(1):1-6.

PMID:
3706398
8.

Deletion of the distal long arm of chromosome 1: an analytical approach may contribute to the diagnosis.

Yamamoto Y, Okamoto N, Yanagisawa M, Nishimoto H, Kann Z, Niitsu N.

Acta Paediatr Jpn. 1988 Dec;30(6):696-702. No abstract available.

PMID:
3149131

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