Detalhe da pesquisa
1.
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.
Hum Genet
; 142(7): 849-861, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186028
2.
Size matters: the impact of nucleus size on results from spatial transcriptomics.
J Transl Med
; 21(1): 270, 2023 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081484
3.
Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
Exp Mol Pathol
; 130: 104856, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791903
4.
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
Hum Mutat
; 43(1): 74-84, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747535
5.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
6.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
7.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
8.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
9.
Comparative genomic analysis of intracranial germ cell tumors - the preliminary study focused on Sonic Hedgehog signaling pathway.
Contemp Oncol (Pozn)
; 21(4): 279-284, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29416433
10.
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.
Pediatr Diabetes
; 17(2): 153-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25403779
11.
Glomerulopathy in patients with distal duplication of chromosome 6p.
BMC Nephrol
; 17: 32, 2016 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27000031
12.
Exhaled nitric oxide correlates with IL-2, MCP-1, PDGF-BB and TIMP-2 in exhaled breath condensate of children with refractory asthma.
Postepy Dermatol Alergol
; 32(2): 107-13, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26015780
13.
Primary leiomyosarcoma of the mesentery in two sisters: clinical and molecular characteristics.
Pol J Pathol
; 64(1): 59-63, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23625602
14.
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.
Sci Rep
; 12(1): 20854, 2022 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460769
15.
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
NPJ Breast Cancer
; 8(1): 76, 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768433
16.
Erratum to: Glomerulopathy in patients with distal duplication of chromosome 6p.
BMC Nephrol
; 17(1): 43, 2016 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117553
17.
Bayesian multilevel model of micro RNA levels in ovarian-cancer and healthy subjects.
PLoS One
; 14(8): e0221764, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31465488
18.
Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours.
Folia Neuropathol
; 57(3): 227-238, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31588709
19.
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
Cancers (Basel)
; 10(11)2018 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30441849
20.
Malignant Gliomas as Second Neoplasms in Pediatric Cancer Survivors: Neuropathological Study.
Biomed Res Int
; 2018: 4596812, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805974