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1.
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(2): 215-26, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24186807
2.
Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.
Hum Mutat
; 35(12): 1469-75, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25205021
3.
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion.
Hum Genet
; 133(4): 383-401, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24385046
4.
Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.
Genes Chromosomes Cancer
; 51(5): 447-51, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22294457
5.
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Hum Mutat
; 33(11): 1599-609, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22837079
6.
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
Hum Mutat
; 33(2): 372-83, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22045503
7.
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
Hum Mutat
; 32(2): 213-9, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21280148
8.
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
Hum Mutat
; 31(6): 742-51, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20506354
9.
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.
Genome Biol
; 15(6): R80, 2014 Jun 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-24958239
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