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.
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.
Am J Med Genet A
; : e63608, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546160
3.
B-cell acute lymphoblastic leukemia and juvenile xanthogranuloma in a patient with ETV6 thrombocytopenia and leukemia predisposition syndrome: novel clinical presentation and perspective.
Haematologica
; 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031764
4.
Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.
Cardiol Young
; 33(12): 2667-2669, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37807723
5.
Characterizing Pediatric Familial Adenomatous Polyposis in Patients Undergoing Colectomy in the United States.
J Pediatr
; 245: 117-122, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34560095
6.
FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
J Pediatr Gastroenterol Nutr
; 75(1): 56-58, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35622075
7.
Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome.
Am J Gastroenterol
; 115(12): 2095-2097, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969947
8.
Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.
Breast Cancer Res Treat
; 181(1): 181-188, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246378
9.
Advances in neuroblastoma therapy.
Curr Opin Pediatr
; 31(1): 14-20, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30480556
10.
Gastrointestinal Polyposis in Pediatric Patients.
J Pediatr Gastroenterol Nutr
; 69(3): 273-280, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211762
11.
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
12.
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin.
J Pediatr Hematol Oncol
; 40(4): e239-e242, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240034
13.
Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.
Clin Genet
; 102(6): 557-559, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35923098
14.
Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.
Pediatr Blood Cancer
; 69(10): e29656, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278038
15.
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome.
Pediatr Blood Cancer
; 64(8)2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28066990
16.
17.
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.
Gastroenterology
; 156(1): 273-274, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30243621
18.
Is It Time to Incorporate Liquid Biopsy into High-Risk Cancer Surveillance Protocols in Li-Fraumeni Syndrome?
Cancer Discov
; 14(1): 23-25, 2024 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38213298
19.
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
J Mol Diagn
; 26(3): 191-201, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103590
20.
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
J Natl Cancer Inst
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702830