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Von Hippel-Lindau disease and multispecialist team.
- Published in:
- Journal of Neurosurgical Sciences, 2021, v. 65, n. 2, p. 213, doi. 10.23736/S0390-5616.20.04950-4
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- Publication type:
- Article
Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription.
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- Cells (2073-4409), 2022, v. 11, n. 6, p. 1011, doi. 10.3390/cells11061011
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- Publication type:
- Article
Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the SDHC Gene.
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- JAMA: Journal of the American Medical Association, 2005, v. 294, n. 16, p. 2057, doi. 10.1001/jama.294.16.2057
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- Publication type:
- Article
Familial Nonsyndromic Pheochromocytoma.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1073, n. 1, p. 149, doi. 10.1196/annals.1353.015
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- Publication type:
- Article
Paraganglioma Syndrome.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1073, n. 1, p. 190, doi. 10.1196/annals.1353.020
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- Publication type:
- Article
Case Report: BAP1 Mutation and RAD21 Amplification as Predictive Biomarkers to PARP Inhibitor in Metastatic Intrahepatic Cholangiocarcinoma.
- Published in:
- Frontiers in Oncology, 2020, v. 11, p. N.PAG, doi. 10.3389/fonc.2020.567289
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- Publication type:
- Article
Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas.
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- JAMA: Journal of the American Medical Association, 2010, v. 304, n. 23, p. 2611, doi. 10.1001/jama.2010.1830
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- Publication type:
- Article
A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12418, doi. 10.3390/ijms241512418
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- Publication type:
- Article
Overexpression of miR-375 and L-type Amino Acid Transporter 1 in Pheochromocytoma and Their Molecular and Functional Implications.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2413, doi. 10.3390/ijms23052413
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- Publication type:
- Article
Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations.
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- Endocrine Pathology, 2019, v. 30, n. 4, p. 276, doi. 10.1007/s12022-019-09595-0
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- Publication type:
- Article
Concurrent pheochromocytoma and cortical carcinoma of the adrenal gland.
- Published in:
- Journal of Surgical Oncology, 2011, v. 103, n. 1, p. 103, doi. 10.1002/jso.21759
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- Publication type:
- Article
Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 5, p. 779, doi. 10.1007/s00401-017-1799-2
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- Publication type:
- Article
Correction to: Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.
- Published in:
- 2018
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- Publication type:
- Correction Notice
A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.
- Published in:
- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00567-0
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- Publication type:
- Article
Comprehensive genomic and transcriptomic characterization of high-grade gastro-entero-pancreatic neoplasms.
- Published in:
- British Journal of Cancer, 2024, v. 131, n. 1, p. 159, doi. 10.1038/s41416-024-02705-8
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- Publication type:
- Article
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
- Published in:
- Nature Genetics, 2011, v. 43, n. 7, p. 663, doi. 10.1038/ng.861
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- Publication type:
- Article
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
- Published in:
- Nature Genetics, 2010, v. 42, n. 3, p. 229, doi. 10.1038/ng.533
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- Publication type:
- Article
The Variant rs1867277 in FOXE1 Gene Confers Thyroid Cancer Susceptibility through the Recruitment of USF1/ USF2 Transcription Factors.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 9, p. 1, doi. 10.1371/journal.pgen.1000637
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- Publication type:
- Article
Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas.
- Published in:
- PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0274478
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- Publication type:
- Article
Pheochromocytoma in von HippelLindau disease and neurofibromatosis type 1.
- Published in:
- Familial Cancer, 2005, v. 4, n. 1, p. 13, doi. 10.1007/s10689-004-6128-y
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- Publication type:
- Article
Liquid Biopsy in Pediatric Renal Cancer: Stage I and Stage IV Cases Compared.
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- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 810, doi. 10.3390/diagnostics10100810
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- Publication type:
- Article
An Epistatic Interaction between the <i>PAX8</i> and <i>STK17B</i> Genes in Papillary Thyroid Cancer Susceptibility.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074765
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- Publication type:
- Article
Clinically Guided Genetic Screening in a Large Cohort of Italian Patients with Pheochromocytomas and/or Functional or Nonfunctional Paragangliomas.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1541, doi. 10.1210/jc.2008-2419
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- Publication type:
- Article
Germline NF1 Mutational Spectra and Loss-of Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 7, p. 2784, doi. 10.1210/jc.2006-2833
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- Publication type:
- Article
Elevated Expression of Luteinizing Hormone Receptor in Aldosterone-Producing Adenomas.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 1136, doi. 10.1210/jc.2005-1298
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- Publication type:
- Article
Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.
- Published in:
- Nature Cell Biology, 2015, v. 17, n. 10, p. 1317, doi. 10.1038/ncb3233
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- Publication type:
- Article
Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.
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- 2014
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- Publication type:
- journal article
Role of SDHAF2 and SDHD in von Hippel-Lindau Associated Pheochromocytomas.
- Published in:
- World Journal of Surgery, 2014, v. 38, n. 3, p. 724, doi. 10.1007/s00268-013-2373-2
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- Publication type:
- Article
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
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- Head & Neck, 2016, v. 38, p. E673, doi. 10.1002/hed.24067
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- Publication type:
- Article
Targeted metabolomics detects a putatively diagnostic signature in plasma and dried blood spots from head and neck paraganglioma patients.
- Published in:
- Oncogenesis, 2023, v. 12, n. 1, p. 1, doi. 10.1038/s41389-023-00456-4
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- Publication type:
- Article
A Multicenter Epidemiological Study on Second Malignancy in Non-Syndromic Pheochromocytoma/Paraganglioma Patients in Italy.
- Published in:
- Cancers, 2021, v. 13, n. 22, p. 5831, doi. 10.3390/cancers13225831
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- Publication type:
- Article
Are we overestimating the penetrance of mutations in SDHB?
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- Human Mutation, 2010, v. 31, n. 6, p. 761, doi. 10.1002/humu.21269
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- Publication type:
- Article
Functional and in silico assessment of MAX variants of unknown significance.
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- Journal of Molecular Medicine, 2015, v. 93, n. 11, p. 1247, doi. 10.1007/s00109-015-1306-y
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- Publication type:
- Article
Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
- Published in:
- Neuro-Oncology, 2016, v. 18, n. 7, p. 1011, doi. 10.1093/neuonc/nov313
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- Publication type:
- Article
Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.
- Published in:
- International Journal of Cancer, 2015, v. 137, n. 8, p. 1870, doi. 10.1002/ijc.29557
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- Publication type:
- Article
A Novel MAX Gene Mutation Variant in a Patient With Multiple and "Composite" Neuroendocrine–Neuroblastic Tumors.
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00234
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- Publication type:
- Article