Detalhe da pesquisa
1.
Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma.
Nature
; 596(7872): 398-403, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34349258
2.
Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas.
Am J Hum Genet
; 110(3): 460-474, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773604
3.
Molecular subclass of uterine fibroids predicts tumor shrinkage in response to ulipristal acetate.
Hum Mol Genet
; 32(7): 1063-1071, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048862
4.
GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines.
Int J Cancer
; 154(11): 1987-1998, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38319157
5.
Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5.
Gastroenterology
; 165(4): 861-873, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453564
6.
Management of Uterine Fibroids and Sarcomas: The Palermo Position Paper.
Gynecol Obstet Invest
; 89(2): 73-86, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38382486
7.
From APC to the genetics of hereditary and familial colon cancer syndromes.
Hum Mol Genet
; 30(R2): R206-R224, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329396
8.
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.
Hum Mol Genet
; 30(24): 2429-2440, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274970
9.
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.
J Med Genet
; 59(7): 644-651, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281993
10.
Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.
PLoS Genet
; 16(2): e1008572, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32012149
11.
Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer.
Gastroenterology
; 161(2): 592-607, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930428
12.
Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.
Vascular
; 30(5): 842-847, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281442
13.
No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers.
Genes Chromosomes Cancer
; 60(7): 463-473, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527622
14.
Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis.
Br J Cancer
; 124(6): 1169-1174, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414539
15.
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Acta Obstet Gynecol Scand
; 100(11): 2066-2075, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480341
16.
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
PLoS Genet
; 14(3): e1007200, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29522538
17.
Oncogenic exon 2 mutations in Mediator subunit MED12 disrupt allosteric activation of cyclin C-CDK8/19.
J Biol Chem
; 293(13): 4870-4882, 2018 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29440396
18.
Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers.
Br J Cancer
; 120(9): 922-930, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894686
19.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
20.
Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.
Proc Natl Acad Sci U S A
; 113(5): 1315-20, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26787895