Detalhe da pesquisa
1.
NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework.
Brief Bioinform
; 23(1)2022 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529041
2.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; 194(7): e63531, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
3.
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
4.
Interphase FISH for BCR-ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR-ABL1 positive acute lymphoblastic leukemia.
Hematol Oncol
; 36(1): 344-348, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444777
5.
Characterization of the novel Sezary lymphoma cell line BKP1.
Exp Dermatol
; 24(1): 60-2, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25314094
6.
Clinical, biological, electrophysiological and therapeutic profile of patients with anti-MAG neuropathy according to MYD88L265P and CXCR4 mutations and underlying haemopathy.
J Neurol
; 271(3): 1320-1330, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979093
7.
Lineage switch from B acute lymphoblastic leukemia to acute monocytic leukemia with persistent t(4;11)(q21;q23) and cytogenetic evolution under CD19-targeted therapy.
Ann Hematol
; 96(9): 1579-1581, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28634616
8.
GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies.
Comput Struct Biotechnol J
; 20: 1028-1035, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242293
9.
The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.
Blood Adv
; 6(2): 386-398, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638130
10.
Full-Term Human Placental Macrophages Eliminate Coxiella burnetii Through an IFN-γ Autocrine Loop.
Front Microbiol
; 10: 2434, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749776