Detalhe da pesquisa
1.
Virtual multi-institutional tumor board: a strategy for personalized diagnoses and management of rare CNS tumors.
J Neurooncol
; 167(2): 349-359, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427131
2.
NCI intramural program approach to rare tumors: Natural history study of rare solid tumors in children and adults: A longitudinal, comprehensive data and biospecimen collection protocol.
Pediatr Blood Cancer
; : e30495, 2023 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37345354
3.
The NIH pediatric/young adult chordoma clinic and natural history study: Making advances in a very rare tumor.
Pediatr Blood Cancer
; : e30358, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37347686
4.
Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.
Am J Med Genet A
; 185(4): 1282-1287, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33615670
5.
Barakat syndrome revisited.
Am J Med Genet A
; 176(6): 1341-1348, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663634
6.
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Eur J Pediatr
; 175(5): 727-33, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26795631
7.
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
Proc Natl Acad Sci U S A
; 108(1): 314-8, 2011 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21173220
8.
Germline findings in cancer predisposing genes from a small cohort of chordoma patients.
J Cancer Res Clin Oncol
; 150(5): 227, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38700789
9.
Longitudinal Natural History Study of Children and Adults with Rare Solid Tumors: Initial Results for First 200 Participants.
Cancer Res Commun
; 3(12): 2468-2482, 2023 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37966258
10.
Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation in PMS2.
Front Oncol
; 12: 954879, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35982947
11.
Update on Targeted Therapy in Medullary Thyroid Cancer.
Front Endocrinol (Lausanne)
; 12: 708949, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34489865
12.
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
13.
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.
Pediatr Blood Cancer
; 54(1): 173-5, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19785027
14.
Adrenocortical carcinoma masquerading as pheochromocytoma: a histopathologic dilemma.
Endocrinol Diabetes Metab Case Rep
; 20202020 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31917677
15.
Proceedings of the Comprehensive Oncology Network Evaluating Rare CNS Tumors (NCI-CONNECT) Adult Medulloblastoma Workshop.
Neurooncol Adv
; 2(1): vdaa097, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33005896
16.
Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation.
J Endocr Soc
; 3(1): 284-290, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30623166
17.
Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma.
Front Oncol
; 9: 53, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30854332
18.
Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.
J Clin Endocrinol Metab
; 92(3): 779-86, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200167
19.
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
J Cancer Res Clin Oncol
; 143(8): 1421-1435, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374168
20.
Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons.
Mol Neurobiol
; 54(6): 4507-4523, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27356918