Detalhe da pesquisa
1.
Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.
J Pathol
; 260(3): 329-338, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37203791
2.
Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents.
J Genet Couns
; 30(3): 710-719, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179831
3.
A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient.
J Pediatr Hematol Oncol
; 42(5): e361-e364, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30969264
4.
DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.
Gynecol Oncol
; 147(3): 521-527, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29037807
5.
A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.
J Genet Couns
; 26(3): 387-434, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28357779
6.
Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication.
J Pediatr Hematol Oncol
; 38(8): e278-e282, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27258033
7.
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
N Engl J Med
; 365(7): 611-9, 2011 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21793738
8.
Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient with CHEK2 mutation.
Front Pediatr
; 11: 1067131, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36937957
9.
Surveillance imaging and early surgical intervention for improved CNS tumor outcomes in children with Li-Fraumeni syndrome: Children's National Hospital experience and literature review.
J Neurosurg Pediatr
; 31(3): 258-267, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609372
10.
Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor.
J Clin Oncol
; 40(17): 1853-1860, 2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35500208
11.
Comfort with Pharmacogenetic Testing Amongst Pediatric Oncology Providers and Their Patients.
J Pediatr Hematol Oncol Nurs
; 39(3): 168-177, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467433
12.
Atypical Presentations among Older Adults with COVID-19 Disease: A Need for Broadening the Differential Diagnosis.
Gerontol Geriatr Med
; 7: 2333721421999313, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33786339
13.
An integrated model of care utilizing community health workers to promote safe transitions of care.
J Am Geriatr Soc
; 69(9): 2638-2647, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287819
14.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672375
15.
Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans.
J Neurosci
; 28(29): 7350-8, 2008 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18632939
16.
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.
Front Oncol
; 9: 1507, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32010615
17.
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.
J Med Genet
; 44(1): e59, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17098889
18.
DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Clin Cancer Res
; 24(10): 2251-2261, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29343557
19.
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.
Am J Med Genet A
; 143A(24): 2944-58, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17963221
20.
Evolution of skin lesions in Proteus syndrome.
J Am Acad Dermatol
; 52(5): 834-8, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15858474