Detalhe da pesquisa
1.
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
J Med Genet
; 59(5): 481-491, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811135
2.
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
Hum Mutat
; 42(2): 200-212, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314489
3.
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Blood
; 127(8): 1017-23, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26712909
4.
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Hum Mutat
; 37(9): 955-63, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27323706
5.
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
BMC Endocr Disord
; 16(1): 58, 2016 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27821113
6.
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
Blood
; 119(5): 1283-91, 2012 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22147895
7.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Blood Adv
; 4(6): 1131-1144, 2020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32208489
8.
miR-3099 promotes neurogenesis and inhibits astrogliogenesis during murine neural development.
Gene
; 697: 201-212, 2019 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30769142
9.
Burkholderia pseudomallei animal and human isolates from Malaysia exhibit different phenotypic characteristics.
Diagn Microbiol Infect Dis
; 58(3): 263-70, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17350202
10.
GATA2 is required for lymphatic vessel valve development and maintenance.
J Clin Invest
; 125(8): 2979-94, 2015 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26214525
11.
Novel MDM2 splice variants identified from oral squamous cell carcinoma.
Oral Oncol
; 48(11): 1128-35, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22705356
12.
Over-expression of MAGED4B increases cell migration and growth in oral squamous cell carcinoma and is associated with poor disease outcome.
Cancer Lett
; 321(1): 18-26, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22459352
13.
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Nat Genet
; 43(10): 1012-7, 2011 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892162
14.
Genome-wide prediction and annotation of Burkholderia pseudomallei AraC/XylS family transcription regulator.
In Silico Biol
; 7(4-5): 389-97, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18391231
15.
In silico analysis of Burkholderia pseudomallei genome sequence for potential drug targets.
In Silico Biol
; 6(4): 341-6, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16922696