Detalhe da pesquisa
1.
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Genes Dev
; 30(19): 2158-2172, 2016 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27737959
2.
cGAS surveillance of micronuclei links genome instability to innate immunity.
Nature
; 548(7668): 461-465, 2017 08 24.
Artigo
Inglês
| MEDLINE | ID: mdl-28738408
3.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38701747
4.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30057030
5.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33033404
6.
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.
Genes Dev
; 31(9): 953, 2017 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28566537
7.
Cerebral organoids model human brain development and microcephaly.
Nature
; 501(7467): 373-9, 2013 Sep 19.
Artigo
Inglês
| MEDLINE | ID: mdl-23995685
8.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30193137
9.
Meeting report - building a centrosome.
J Cell Sci
; 126(Pt 15): 3259-62, 2013 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23908378
10.
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
Am J Ophthalmol
; 207: 87-98, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31077665
11.
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Nat Genet
; 51(1): 96-105, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30478443
12.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Nat Genet
; 48(1): 36-43, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26595769
13.
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Nat Genet
; 46(12): 1283-1292, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25344692
14.
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Nat Genet
; 43(4): 350-5, 2011 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-21358633
15.
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
Nat Genet
; 40(2): 232-6, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-18157127