Detalhe da pesquisa
1.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Hum Mol Genet
; 29(13): 2109-2123, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32186706
2.
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
PLoS Genet
; 14(12): e1007821, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30540754
3.
High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9.
Genome Res
; 25(7): 1030-42, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26048245
4.
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Hum Mutat
; 37(5): 465-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841305
5.
A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.
Gastroenterology
; 149(1): 67-78, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865046
6.
High frequency of BRAF mutations in nevi.
Nat Genet
; 33(1): 19-20, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12447372
7.
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Mol Genet Metab
; 105(3): 382-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22264778
8.
Genome-wide linkage scan for prostate cancer susceptibility in Finland: evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22.
Int J Cancer
; 129(10): 2400-7, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21207418
9.
Redundant mechanisms driven independently by RUNX1 and GATA2 for hematopoietic development.
Blood Adv
; 5(23): 4949-4962, 2021 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492681
10.
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Mol Cancer Res
; 7(1): 41-54, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19147536
11.
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Dis Model Mech
; 13(3)2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996359
12.
Gene expression profiling of human sarcomas: insights into sarcoma biology.
Cancer Res
; 65(20): 9226-35, 2005 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16230383
13.
Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection.
G3 (Bethesda)
; 7(2): 719-722, 2017 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28040780
14.
CRISPR-Mediated Triple Knockout of SLAMF1, SLAMF5 and SLAMF6 Supports Positive Signaling Roles in NKT Cell Development.
PLoS One
; 11(6): e0156072, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27258160
15.
Microarray expression profiling in melanoma reveals a BRAF mutation signature.
Oncogene
; 23(23): 4060-7, 2004 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15048078
16.
Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis.
Eur J Hum Genet
; 21(4): 437-43, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22948022
17.
GWAS reveals new recessive loci associated with non-syndromic facial clefting.
Eur J Med Genet
; 55(10): 510-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22750566