Detalhe da pesquisa
1.
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing.
Haematologica
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385299
2.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Am J Med Genet A
; 194(1): 64-69, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705207
3.
The Incidence of Multiple Fusions in a Series of Pediatric Soft Tissue and Bone Tumors.
Pediatr Dev Pathol
; 27(1): 3-12, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37771132
4.
Pediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma.
Cancer
; 129(14): 2245-2255, 2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081608
5.
Expanding the molecular signatures of malignant ossifying fibromyxoid tumours with two novel gene fusions: PHF1::FOXR1 and PHF1::FOXR2.
Histopathology
; 82(6): 946-952, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648026
6.
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Pediatr Blood Cancer
; : e30419, 2023 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194624
7.
Mesenchymal neoplasms with NTRK and other kinase gene alterations.
Histopathology
; 80(1): 4-18, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958503
8.
Hepatocellular Adenoma in an Infant With Burn-McKeown Syndrome: Report of a Case.
Pediatr Dev Pathol
; 25(6): 668-671, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36262073
9.
Mesenchymal PLAG1 Tumor With PCMTD1-PLAG1 Fusion in an Infant: A New Type of "Plagoma".
Am J Dermatopathol
; 44(1): 54-57, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291746
10.
Novel MEAF6-SUZ12 fusion in ossifying fibromyxoid tumor with unusual features.
Genes Chromosomes Cancer
; 60(9): 631-634, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33840146
11.
BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers.
Pediatr Blood Cancer
; 68(6): e28933, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565241
12.
Novel PPP1CB-ALK fusion in spindle cell tumor defined by S100 and CD34 coexpression and distinctive stromal and perivascular hyalinization.
Genes Chromosomes Cancer
; 59(8): 495-499, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222087
13.
Infantile inflammatory myofibroblastic tumors: clinicopathological and molecular characterization of 12 cases.
Mod Pathol
; 33(4): 576-590, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690781
14.
Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms.
Histopathology
; 76(7): 1032-1041, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31994201
15.
Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Am J Med Genet A
; 182(4): 673-680, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961069
16.
miRNA expression can classify pediatric thyroid lesions and increases the diagnostic yield of mutation testing.
Pediatr Blood Cancer
; 67(6): e28276, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196952
17.
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Hum Genet
; 138(11-12): 1301-1311, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686214
18.
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.
Pediatr Blood Cancer
; 65(10): e27296, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29932284
19.
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2.
Ann Hepatol
; 16(3): 465-468, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425419
20.
The Genomic Era of Clinical Oncology: Integrated Genomic Analysis for Precision Cancer Care.
Cytogenet Genome Res
; 150(3-4): 162-175, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002823