Detalhe da pesquisa
1.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
2.
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.
Nucleic Acids Res
; 49(W1): W21-W28, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34023905
3.
Clinical and biological features of B-cell neoplasms with CDK6 translocations: an association with a subgroup of splenic marginal zone lymphomas displaying frequent CD5 expression, prolymphocytic cells, and TP53 abnormalities.
Br J Haematol
; 193(1): 72-82, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314017
4.
Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia.
Haematologica
; 104(6): 1150-1155, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573507
5.
"Double-hit" chronic lymphocytic leukemia: An aggressive subgroup with 17p deletion and 8q24 gain.
Am J Hematol
; 93(3): 375-382, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194741
6.
Cytogenetics in the management of hematological malignancies: An overview of alternative technologies for cytogenetic characterization.
Curr Res Transl Med
; 72(3): 103440, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447270
7.
Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations.
Haematologica
; 103(1): e13-e16, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29079597
8.
Cytogenetics in the management of mature T-cell and NK-cell neoplasms: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Curr Res Transl Med
; 71(4): 103428, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38016421
9.
An incidental finding of maternal multiple myeloma by non invasive prenatal testing.
Prenat Diagn
; 37(12): 1257-1260, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29023902
10.
A fenugreek seed extract selectively reduces spontaneous fat intake in overweight subjects.
Eur J Clin Pharmacol
; 66(5): 449-55, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20020282
11.
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
BMC Med Genomics
; 12(1): 116, 2019 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31375103
12.
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Mol Genet Genomic Med
; 7(11): e00895, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493343
13.
Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.
Methods Mol Biol
; 1769: 353-361, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564835
14.
Association of myeloproliferative and lymphoproliferative disorders.
Clin Adv Hematol Oncol
; 10(11): 756-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23271265
15.
New chimeric RNAs in acute myeloid leukemia.
F1000Res
; 62017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29623188
16.
Exon 7 deletion in the bcr-abl gene is frequent in chronic myeloid leukemia patients and is not correlated with resistance against imatinib.
Mol Cancer Ther
; 9(11): 3083-9, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21045136
17.
Monosomal karyotype routinely defines a poor prognosis subgroup in acute myeloid leukemia and is frequently associated with TP53 deletion.
Leuk Lymphoma
; 53(2): 336-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21823831