Detalhe da pesquisa
1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
2.
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Int J Cancer
; 154(8): 1455-1463, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38175816
3.
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
Clin Genet
; 105(5): 499-509, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221796
4.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
J Med Genet
; 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768194
5.
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
Hered Cancer Clin Pract
; 21(1): 11, 2023 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37400873
6.
Germline testing for homologous recombination repair genes-opportunities and challenges.
Genes Chromosomes Cancer
; 60(5): 332-343, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33078493
7.
Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis.
Neuropathol Appl Neurobiol
; 48(6): e12830, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728810
8.
Preliminary experience on the use of PET/CT in the management of pediatric post-transplant lymphoproliferative disorder.
Pediatr Blood Cancer
; 64(12)2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28612477
9.
Secondary Biphenotypic Acute Leukemia Following Rosai-Dorfman-Disease A Coincidence?
Klin Padiatr
; 234(3): 169-171, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34911134
10.
Reply to: Role of PET-CT in management of post-transplant lymphoproliferative disorder: Preliminary experience on the use of PET/CT in the management of pediatric post-transplant lymphoproliferative disorder.
Pediatr Blood Cancer
; 65(2)2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29077252
11.
Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry.
Eur J Cancer
; 180: 71-84, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542877
12.
NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology.
NPJ Precis Oncol
; 7(1): 109, 2023 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37884744
13.
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nat Med
; 29(4): 917-926, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928815
14.
Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
Neuro Oncol
; 25(12): 2273-2286, 2023 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379234
15.
Cancer predisposition in pediatric neuro-oncology-practical approaches and ethical considerations.
Neurooncol Pract
; 8(5): 526-538, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34594567
16.
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Fam Cancer
; 20(4): 327-336, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888134
17.
CATCH: A Prospective Precision Oncology Trial in Metastatic Breast Cancer.
JCO Precis Oncol
; 52021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34036222
18.
The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets.
Cancer Discov
; 11(11): 2764-2779, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373263
19.
Chromothripsis in Human Breast Cancer.
Cancer Res
; 80(22): 4918-4931, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32973084
20.
High-dose etoposide and cyclophosphamide in adults and children with primary refractory and multiply relapsed acute leukaemias: The Royal Marsden experience.
Leuk Res
; 85: 106217, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493701