Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth-Reference-Cited by-同舟云学术

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Published:2017-08-03 Issue:10 Volume:136 Page:1329-1339
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ferrari Luca,Scuvera Giulietta,Tucci Arianna,Bianchessi Donatella,Rusconi Francesco,Menni Francesca,Battaglioli Elena,Milani Donatella,Riva Paola^ORCID

Funder

Italian Ministry of Health

Fondazione Telethon

Fondazione Cariplo

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-017-1832-5/fulltext.html

Reference49 articles.

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2. Bengesser K, Vogt J, Mussotter T et al (2014) Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. Hum Mutat 35:215–226. doi: 10.1002/humu.22473

3. Chen M, Licon K, Otsuka R et al (2013) Decoupling epigenetic and genetic effects through systematic analysis of gene position. Cell Rep 3:128–137. doi: 10.1016/j.celrep.2012.12.003

4. Ciferri C, Lander GC, Maiolica A et al (2012) Molecular architecture of human polycomb repressive complex 2. Elife 2012:1–22. doi: 10.7554/eLife.00005

5. De Raedt T, Brems H, Wolkenstein P et al (2003) Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 72:1288–1292. doi: 10.1086/374821

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