Detalhe da pesquisa
1.
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Hum Mutat
; 36(3): 357-68, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545067
2.
Mutations and thrombosis in essential thrombocythemia: prognostic interaction with age and thrombosis history.
Eur J Haematol
; 94(1): 31-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889737
3.
Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients.
Am J Hematol
; 89(8): E121-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24753125
4.
Value of cytogenetic abnormalities in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a study of the MYSEC project.
Haematologica
; 103(9): e392-e394, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29622658
5.
A particular case of AML patient with the polymorphism G105G (rs11554137) and the missense mutation R132C in IDH1 gene.
Clin Chem Lab Med
; 57(2): e30-e33, 2018 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30052515
6.
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.
Front Genet
; 13: 798607, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35368691
7.
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality.
Front Genet
; 12: 577623, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33719329
8.
FTL gene mutation and persistent hyperferritinemia without iron deficiency anemia after phlebotomy.
Clin Chem Lab Med
; 53(10): e275-7, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25720123
9.
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Seizure
; 80: 145-152, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32570172
10.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782
11.
The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss.
Int J Pediatr Otorhinolaryngol
; 127: 109653, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31472357
12.
gDNA qPCR is statistically more reliable than mRNA analysis in detecting leukemic cells to monitor CML.
Cell Death Dis
; 9(3): 349, 2018 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29500381
13.
Platelet count predicts driver mutations' co-occurrence in low JAK2 mutated essential thrombocythemia and myelofibrosis.
Leukemia
; 35(5): 1490-1493, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051550
14.
Culture of skeletal myoblasts from human donors aged over 40 years: dynamics of cell growth and expression of differentiation markers.
J Transl Med
; 3(1): 21, 2005 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-15890077
15.
Analysis of three screening methods for the detection of calreticulin gene mutations.
Int J Lab Hematol
; 42(2): e76-e79, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31693300
16.
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
Cell Death Dis
; 11(7): 529, 2020 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32699206
17.
It is time to change thrombosis risk assessment for PV and ET?
Best Pract Res Clin Haematol
; 27(2): 121-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25189723
18.
Isolation and characterization of multipotent cells from human fetal dermis.
Cell Transplant
; 23(10): 1169-85, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768775
19.
Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.
J Child Neurol
; 28(11): 1463-1466, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23611886
20.
A new acute myeloid leukemia case with STAT5B-RARA gene fusion due to 17q21.2 interstitial deletion.
Leuk Lymphoma
; 58(8): 1977-1980, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911132