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The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R, Small KS, Hurles ME.

PLoS Genet. 2014 Mar 6;10(3):e1004195. doi: 10.1371/journal.pgen.1004195. eCollection 2014 Mar.


Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.

Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP, Blayney ML, Beck S, Hurles ME.

Nat Genet. 2008 Jan;40(1):90-5. Epub 2007 Dec 2.


Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.

Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF.

PLoS Genet. 2013 Mar;9(3):e1003363. doi: 10.1371/journal.pgen.1003363. Epub 2013 Mar 21.


Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, Fu C, van den Ende J, Mautner VF, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Mutat. 2012 Nov;33(11):1599-609. doi: 10.1002/humu.22171. Epub 2012 Aug 20.


Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.

Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2012 Feb;33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9.


Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H.

Am J Hum Genet. 2007 Dec;81(6):1201-20. Epub 2007 Oct 31.


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.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2.


Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2010 Oct;31(10):1163-73. doi: 10.1002/humu.21340.


Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

Hillmer M, Wagner D, Summerer A, Daiber M, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mol Genet. 2016 Feb 1;25(3):484-96. doi: 10.1093/hmg/ddv487. Epub 2015 Nov 27.


Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.

Molina O, Anton E, Vidal F, Blanco J.

Hum Genet. 2011 Jan;129(1):35-44. doi: 10.1007/s00439-010-0894-4. Epub 2010 Oct 8.


CNV Concordance in 1,097 MZ Twin Pairs.

Abdellaoui A, Ehli EA, Hottenga JJ, Weber Z, Mbarek H, Willemsen G, van Beijsterveldt T, Brooks A, Hudziak JJ, Sullivan PF, de Geus EJ, Davies GE, Boomsma DI.

Twin Res Hum Genet. 2015 Feb;18(1):1-12. doi: 10.1017/thg.2014.86. Epub 2015 Jan 12.


Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.

Kehrer-Sawatzki H, Bengesser K, Callens T, Mikhail F, Fu C, Hillmer M, Walker ME, Saal HM, Lacassie Y, Cooper DN, Messiaen L.

Hum Mutat. 2014 Dec;35(12):1469-75. doi: 10.1002/humu.22692.


Detecting non-allelic homologous recombination from high-throughput sequencing data.

Parks MM, Lawrence CE, Raphael BJ.

Genome Biol. 2015 Apr 8;16:72. doi: 10.1186/s13059-015-0633-1.


Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population.

Wahlgren CM, Larsson E, Magnusson PK, Hultgren R, Swedenborg J.

J Vasc Surg. 2010 Jan;51(1):3-7; discussion 7. doi: 10.1016/j.jvs.2009.08.036. Epub 2009 Nov 24.


Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.

Peng Z, Zhou W, Fu W, Du R, Jin L, Zhang F.

Hum Mol Genet. 2015 Mar 1;24(5):1225-33. doi: 10.1093/hmg/ddu533. Epub 2014 Oct 16.


NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P.

Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8.


A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.

Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254.


Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.

Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR.

Am J Hum Genet. 2011 Oct 7;89(4):580-8. doi: 10.1016/j.ajhg.2011.09.009.

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