Detalhe da pesquisa
1.
PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.
Annu Rev Genomics Hum Genet
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316164
2.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Proc Natl Acad Sci U S A
; 120(9): e2102569120, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802443
3.
TREC mediated oncogenesis in human immature T lymphoid malignancies preferentially involves ZFP36L2.
Mol Cancer
; 22(1): 108, 2023 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37430263
4.
Oncogenetic landscape of lymphomagenesis in coeliac disease.
Gut
; 71(3): 497-508, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579790
5.
PIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings.
Am J Med Genet A
; 188(1): 243-248, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34477311
6.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Am J Med Genet A
; 185(12): 3831-3837, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296525
7.
Dermatofibrosarcoma protuberans, fibrosarcomatous variant: A rare tumor in children.
Pediatr Dermatol
; 38(1): 217-222, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33010051
8.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.
J Allergy Clin Immunol
; 143(1): 325-334.e2, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29906526
9.
Inflammation is predictive of outcome in Waldenström macroglobulinemia treated by Bruton tyrosine kinase inhibitors: a multicentric real-life study.
Haematologica
; 109(1): 325-330, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584289
10.
Array-CGH predicts prognosis in plasma cell post-transplantation lymphoproliferative disorders.
Genes Chromosomes Cancer
; 56(3): 221-230, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27750397
11.
Caution encouraged in next-generation sequencing immunogenetic analyses in acute lymphoblastic leukemia.
Blood
; 136(9): 1105-1107, 2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32438392
12.
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
Am J Hematol
; 97(8): E285-E288, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35560067
13.
A very uncommon cause of acute kidney injury in infancy.
Kidney Int
; 100(4): 948-950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34556303
14.
Malignant histiocytosis with a Langerhans cell subtype: A report on the diagnostic and therapeutic challenge.
Blood Cells Mol Dis
; 92: 102623, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751149
15.
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
Blood
; 122(23): 3713-22, 2013 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24089328
16.
Small intestinal CD4+ T-cell lymphoma is a heterogenous entity with common pathology features.
Clin Gastroenterol Hepatol
; 12(4): 599-608.e1, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24316103
17.
T-cell large granular lymphocyte leukemia transfomation into aggressive T-cell lymphoma: a report of two cases with molecular characterization.
Haematologica
; 104(3): e117-e120, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573508
18.
Genotoxic signature in cord blood cells of newborns exposed in utero to a Zidovudine-based antiretroviral combination.
J Infect Dis
; 208(2): 235-43, 2013 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559464
19.
Large granular lymphocytic leukemia: a treatable form of refractory celiac disease.
Gastroenterology
; 143(6): 1470-1472.e2, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22922421
20.
Targeted High-throughput Sequencing for Hematological Malignancies: A GBMHM Survey of Practice and Cost Evaluation in France.
Hemasphere
; 7(9): e943, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37637995