Detalhe da pesquisa
1.
Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay.
Nucleic Acids Res
; 49(13): 7507-7524, 2021 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34181717
2.
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum Genet
; 137(11-12): 921-939, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450527
3.
Large transcription units unify copy number variants and common fragile sites arising under replication stress.
Genome Res
; 25(2): 189-200, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25373142
4.
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
J Med Genet
; 54(3): 212-216, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920058
5.
Molecular biology: Breaks in the brain.
Nature
; 532(7597): 46-7, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27007850
6.
The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability.
Hum Mol Genet
; 22(24): 4901-13, 2013 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23863462
7.
De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.
PLoS Genet
; 8(9): e1002981, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23028374
8.
Activation of GATA binding protein 6 (GATA6) sustains oncogenic lineage-survival in esophageal adenocarcinoma.
Proc Natl Acad Sci U S A
; 109(11): 4251-6, 2012 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22375031
9.
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Am J Hum Genet
; 89(1): 44-55, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21703590
10.
REV1 and polymerase ζ facilitate homologous recombination repair.
Nucleic Acids Res
; 40(2): 682-91, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926160
11.
Hydroxyurea induces de novo copy number variants in human cells.
Proc Natl Acad Sci U S A
; 108(42): 17360-5, 2011 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21987784
12.
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Am J Med Genet A
; 161A(8): 1882-96, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824832
13.
Harnessing genomics to identify environmental determinants of heritable disease.
Mutat Res
; 752(1): 6-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935230
14.
Applications of advanced technologies for detecting genomic structural variation.
Mutat Res Rev Mutat Res
; 792: 108475, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931775
15.
svCapture: efficient and specific detection of very low frequency structural variant junctions by error-minimized capture sequencing.
NAR Genom Bioinform
; 5(2): lqad042, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181851
16.
Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.
Am J Hum Genet
; 84(3): 339-50, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19232554
17.
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.
Am J Med Genet A
; 158A(4): 839-49, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407726
18.
Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.
Am J Med Genet A
; 158A(10): 2591-601, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903861
19.
Replication stress induces tumor-like microdeletions in FHIT/FRA3B.
Proc Natl Acad Sci U S A
; 105(1): 246-51, 2008 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18162546
20.
Functional interaction between the Fanconi Anemia D2 protein and proliferating cell nuclear antigen (PCNA) via a conserved putative PCNA interaction motif.
J Biol Chem
; 284(42): 28935-42, 2009 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-19704162