Detalhe da pesquisa
1.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38529886
2.
Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images.
Mod Pathol
; 36(11): 100304, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37580018
3.
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
Brain
; 143(7): 2027-2038, 2020 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32542401
4.
A framework for validating AI in precision medicine: considerations from the European ITFoC consortium.
BMC Med Inform Decis Mak
; 21(1): 274, 2021 10 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34600518
5.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30508070
6.
Implementation of a molecular tumor board at a regional level to improve access to targeted therapy.
Int J Clin Oncol
; 25(7): 1234-1241, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32215806
7.
Integration of transcriptome and proteome profiles in glioblastoma: looking for the missing link.
BMC Mol Biol
; 19(1): 13, 2018 11 21.
Artigo
Inglês
| MEDLINE | ID: mdl-30463513
8.
Recent advances in understanding inheritance of holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 258-269, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29785796
9.
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Hum Mutat
; 37(12): 1329-1339, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27363716
10.
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
J Hepatol
; 62(3): 664-72, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25457201
11.
Characterizing the peritumoral brain zone in glioblastoma: a multidisciplinary analysis.
J Neurooncol
; 122(1): 53-61, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25559687
12.
Mouse genetic background impacts both on iron and non-iron metals parameters and on their relationships.
Biometals
; 28(4): 733-43, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26041486
13.
Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.
Clin Exp Dent Res
; 10(2): e861, 2024 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38558491
14.
IGHV segment utilization in immunoglobulin gene rearrangement differentiates patients with anti-myelin-associated glycoprotein neuropathy from others immunoglobulin M-gammopathies.
Haematologica
; 103(5): e207-e210, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29371323
15.
MiR-31-3p do not predict anti-EGFR efficacy in first-line therapy of RAS wild-type metastatic right-sided colon cancer.
Clin Res Hepatol Gastroenterol
; 46(5): 101888, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35189426
16.
GNPAT variant associated with severe iron overload in HFE hemochromatosis.
Hepatology
; 62(6): 1917-8, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25891252
17.
MITF reprograms the extracellular matrix and focal adhesion in melanoma.
Elife
; 102021 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-33438577
18.
DNA methylation in glioblastoma: impact on gene expression and clinical outcome.
BMC Genomics
; 11: 701, 2010 Dec 14.
Artigo
Inglês
| MEDLINE | ID: mdl-21156036
19.
Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression.
Genes Chromosomes Cancer
; 48(1): 55-68, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18828157
20.
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
J Clin Endocrinol Metab
; 105(9)2020 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32403133