Detalhe da pesquisa
1.
Omics Technologies Improving Breast Cancer Research and Diagnostics.
Int J Mol Sci
; 24(16)2023 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628869
2.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855352
3.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
FASEB J
; 33(10): 11284-11302, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31314595
4.
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer.
Int J Cancer
; 143(7): 1706-1719, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29672841
5.
The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma.
Int J Cancer
; 134(9): 2098-107, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24127282
6.
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies.
Antioxidants (Basel)
; 12(2)2023 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36829912
7.
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
Open Biol
; 13(7): 230040, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433330
8.
Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC).
Cancers (Basel)
; 13(9)2021 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33946592
9.
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.
Front Endocrinol (Lausanne)
; 12: 600682, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33692755
10.
Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility.
Eur J Histochem
; 65(s1)2021 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34818877
11.
BRAF Exon 15 Mutations in Papillary Carcinoma and Adjacent Thyroid Parenchyma: A Search for the Early Molecular Events Associated with Tumor Development.
Cancers (Basel)
; 12(2)2020 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32059434
12.
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family.
Sci Rep
; 8(1): 11635, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072699
13.
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
Gene
; 559(2): 144-8, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597765
14.
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
EMBO Mol Med
; 6(6): 795-809, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24737869