Detalhe da pesquisa
1.
Somatic Activating PIK3CA Mutations Cause Venous Malformation.
Am J Hum Genet
; 97(6): 914-21, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637981
2.
Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.
Am J Med Genet A
; 170A(2): 523-530, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26544544
3.
Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.
Hum Mol Genet
; 22(17): 3438-48, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633549
4.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Am J Hum Genet
; 90(2): 356-62, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284827
5.
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Hum Mutat
; 34(12): 1632-41, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038909
6.
Tumor Microenvironment Modifications Induced by Afatinib in Squamous Cell Carcinoma of the Head and Neck: A Window-of-Opportunity Study (EORTC-90111-24111).
Clin Cancer Res
; 29(20): 4076-4087, 2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531234
7.
Tumour-agnostic plasma assay for circulating tumour DNA predicts outcome in recurrent and/or metastatic squamous cell carcinoma of the head and neck treated with a PD-1 inhibitor.
Eur J Cancer
; 195: 113372, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37913682
8.
Preclinical Evaluation of the Association of the Cyclin-Dependent Kinase 4/6 Inhibitor, Ribociclib, and Cetuximab in Squamous Cell Carcinoma of the Head and Neck.
Cancers (Basel)
; 13(6)2021 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33809148
9.
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
JAMA
; 304(23): 2611-9, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21156949
10.
Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma.
Oral Oncol
; 104: 104631, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169746
11.
CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis.
Hemasphere
; 7(12): e985, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38026792
12.
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
J Invest Dermatol
; 137(1): 207-216, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519652
13.
STK39 and WNK1 Are Potential Hypertension Susceptibility Genes in the BELHYPGEN Cohort.
Medicine (Baltimore)
; 95(15): e2968, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27082544
14.
Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.
J Clin Invest
; 125(9): 3491-504, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258417
15.
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Orphanet J Rare Dis
; 10: 52, 2015 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25934493