Detalhe da pesquisa
1.
Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia.
Blood
; 142(2): 172-184, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37001051
2.
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Am J Med Genet A
; 194(3): e63451, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882230
3.
Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.
Genes Chromosomes Cancer
; 61(12): 710-719, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35771717
4.
Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
Genes Chromosomes Cancer
; 60(4): 263-271, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300192
5.
Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories.
Prenat Diagn
; 41(7): 843-854, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33882154
6.
Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors.
Genes Chromosomes Cancer
; 59(1): 23-29, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433528
7.
MYCN Amplified Relapse Following Resolution of MYCN Nonamplified 4S Neuroblastoma With Placental Involvement: A Case Report and Review of the Literature.
J Pediatr Hematol Oncol
; 41(5): 388-391, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31094905
8.
Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis.
Pediatr Hematol Oncol
; 35(7-8): 407-414, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806137
9.
Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion.
Pediatr Blood Cancer
; 63(11): 1915-21, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392123
10.
TERT promotor variant associated with poor clinical outcome in a patient with novel RBM15-MKL1 fusion-positive pediatric acute megakaryoblastic leukemia.
Pediatr Blood Cancer
; 68(1): e28542, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743872
11.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
J Med Genet
; 52(11): 738-48, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26342108
12.
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.
Haematologica
; 100(5): 633-42, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25682607
13.
Genome assembly comparison identifies structural variants in the human genome.
Nat Genet
; 38(12): 1413-8, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17115057
14.
CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity.
Acta Neuropathol
; 128(2): 291-303, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24839957
15.
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
Am J Med Genet A
; 164A(3): 748-52, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357149
16.
Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach.
J Neurooncol
; 116(1): 195-204, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218181
17.
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
Am J Hum Genet
; 87(5): 631-42, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21056402
18.
Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia.
Curr Oncol
; 30(7): 5946-5952, 2023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503586
19.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nat Cancer
; 4(2): 203-221, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585449
20.
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
Am J Med Genet A
; 158A(7): 1579-88, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22639462