Detalhe da pesquisa
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
2.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711075
3.
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
PLoS Genet
; 11(12): e1005686, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26641089
4.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065914
5.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Genet Med
; 18(5): 443-51, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378787
6.
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
Hum Mol Genet
; 22(4): 749-56, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161748
7.
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
PLoS Genet
; 7(8): e1002247, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21901111
8.
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Am J Hum Genet
; 86(3): 462-70, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20188345
9.
Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor.
Biosens Bioelectron
; 48: 230-7, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23693093
10.
Increased LIS1 expression affects human and mouse brain development.
Nat Genet
; 41(2): 168-77, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19136950
11.
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.
Am J Hum Genet
; 75(1): 75-81, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15148657
12.
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
Am J Hum Genet
; 73(6): 1302-15, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14639526