Detalhe da pesquisa
1.
Rhabdoid tumors in patients conceived following ART: is there an association?
Hum Reprod
; 38(10): 2028-2038, 2023 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553222
2.
Generalized Infantile Myofibromatosis with Extensive Small Bowel Involvement in a Neonate.
Z Geburtshilfe Neonatol
; 227(3): 231-235, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36921614
3.
Spatial molecular profiling of a central nervous system low-grade diffusely infiltrative tumour with INI1 deficiency featuring a high-grade atypical teratoid/rhabdoid tumour component.
Neuropathol Appl Neurobiol
; 48(3): e12777, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34820878
4.
Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC.
Neuropathol Appl Neurobiol
; 48(4): e12797, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35152461
5.
ATRT-SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance.
Acta Neuropathol
; 143(6): 697-711, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501487
6.
Final results of the Choroid Plexus Tumor study CPT-SIOP-2000.
J Neurooncol
; 156(3): 599-613, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997889
7.
SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type.
J Pathol
; 255(1): 1-15, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999421
8.
Coping with Diffuse Intrinsic Pontine Glioma in Children - Findings from an Interview Study on Bereaved Parents.
Klin Padiatr
; 234(6): 374-381, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35654395
9.
Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor.
Genes Chromosomes Cancer
; 60(8): 586-590, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33896072
10.
Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.
Acta Neuropathol
; 142(2): 361-374, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003336
11.
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
Acta Neuropathol
; 141(2): 291-301, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331994
12.
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.
Acta Neuropathol
; 139(2): 277-286, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732806
13.
Epigenetics impacts upon prognosis and clinical management of choroid plexus tumors.
J Neurooncol
; 148(1): 39-45, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342334
14.
Biological material collection to advance translational research and treatment of children with CNS tumours: position paper from the SIOPE Brain Tumour Group.
Lancet Oncol
; 19(8): e419-e428, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30102236
15.
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.
Childs Nerv Syst
; 34(3): 581-584, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29167993
16.
Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study.
Clin Oral Investig
; 22(3): 1541-1549, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29046964
17.
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
Am J Med Genet A
; 173(4): 1017-1037, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28168833
18.
ALK inhibition as a salvage therapy for a relapsed unclassifiable sarcomatous CNS tumor with EML4/ALK fusion in an infant.
Pediatr Blood Cancer
; 69(8): e29594, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35195346
19.
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome.
Acta Neuropathol
; 142(3): 591-593, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264394
20.
Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6.
Pediatr Blood Cancer
; 68(10): e29185, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34101994