Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome-Reference-Cited by-同舟云学术

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome

Published:2003-04 Issue:4 Volume:11 Page:315-324
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kamnasaran Deepak,O' Brien Patricia C,Zackai Elaine H,Muenke Maximilian,Ferguson-Smith Malcolm A,Cox Diane W

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200963.pdf

Reference34 articles.

1. Kamnasaran D, O'Brien PC, Schuffenhauer S et al: Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet 2001; 102: 173–182.

2. Datson NA, Semina E, van Staalduinen AA et al: Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. Am J Hum Genet 1996; 59: 1297–1305.

3. Flomen RH, Vatcheva R, Gorman PA et al: Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998; 47: 409–413.

4. Makita Y, Masuno M, Imaizumi K et al: Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25). Am J Med Genet 1995; 57: 19–21.

5. Wang Q, Timur AA, Szafranski P et al: Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenet Cell Genet 2001; 95: 183–188.

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