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Results: 6

1.

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.

Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF.

Am J Hum Genet. 2013 Mar 7;92(3):375-86. doi: 10.1016/j.ajhg.2013.02.006.

PMID:
23472757
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Review.

PMID:
23533028
[PubMed - indexed for MEDLINE]
3.

Origins and breakpoint analyses of copy number variations: up close and personal.

van Binsbergen E.

Cytogenet Genome Res. 2011;135(3-4):271-6. doi: 10.1159/000330267. Epub 2011 Aug 12. Review.

PMID:
21846967
[PubMed - indexed for MEDLINE]
5.

A microhomology-mediated break-induced replication model for the origin of human copy number variation.

Hastings PJ, Ira G, Lupski JR.

PLoS Genet. 2009 Jan;5(1):e1000327. doi: 10.1371/journal.pgen.1000327. Epub 2009 Jan 30. Review.

PMID:
19180184
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

How life changes itself: the Read-Write (RW) genome.

Shapiro JA.

Phys Life Rev. 2013 Sep;10(3):287-323. doi: 10.1016/j.plrev.2013.07.001. Epub 2013 Jul 8. Review.

PMID:
23876611
[PubMed - indexed for MEDLINE]
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