Detalhe da pesquisa
1.
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Am J Hum Genet
; 111(2): 309-322, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272032
2.
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Breast Cancer Res
; 26(1): 6, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195559
3.
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.
Hum Genet
; 141(12): 1925-1933, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904628
4.
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
Clin Genet
; 101(2): 208-213, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708403
5.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113011
6.
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells.
Nucleic Acids Res
; 46(22): e131, 2018 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30551175
7.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28490613
8.
Isolating subpopulations of human epidermal basal cells based on polyclonal serum against trypsin-resistant CSPG4 epitopes.
Exp Cell Res
; 350(2): 368-379, 2017 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28011196
9.
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.
Mol Genet Metab
; 120(4): 384-391, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28336152
10.
Gene Expression in the Liver Remnant Is Significantly Affected by the Size of Partial Hepatectomy: An Experimental Rat Study.
Gene Expr
; 17(4): 289-299, 2017 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488569
11.
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res
; 18(1): 15, 2016 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857456
12.
Difficulties in diagnosing Marfan syndrome using current FBN1 databases.
Genet Med
; 18(1): 98-102, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25812041
13.
Persistence of DNMT3A mutations at long-term remission in adult patients with AML.
Br J Haematol
; 167(4): 478-86, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25371149
14.
Tetraploidy in hydatidiform moles.
Hum Reprod
; 28(7): 2010-20, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633551
15.
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Sci Rep
; 13(1): 8536, 2023 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37237042
16.
Enhanced production of mesencephalic dopaminergic neurons from lineage-restricted human undifferentiated stem cells.
Nat Commun
; 14(1): 7871, 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38052784
17.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Hum Mutat
; 33(6): 981-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473935
18.
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Hum Mutat
; 33(4): 690-702, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253144
19.
A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry.
Clin Epidemiol
; 13: 113-120, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33623438
20.
Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.
Breast Cancer Res Treat
; 120(3): 777-82, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19575290