Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome
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P. Igaz | A. Patócs | H. Butz | I. Likó | L. Piros | N. Wikonkál | P. Turai | A. Bozsik | E. Toth | M. Medvecz | K. Dezső | G. Huszty | G. Tóth | P. Nagy | E. Tóth
[1] D. Evans,et al. PTCH2 is not a strong candidate gene for gorlin syndrome predisposition , 2021, Familial cancer.
[2] A. Patócs,et al. Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants , 2021, Cancers.
[3] W. Foulkes,et al. Bilateral Tumors - Inherited or Acquired? , 2020, The New England journal of medicine.
[4] K. Jeng,et al. Sonic Hedgehog Signaling in Organogenesis, Tumors, and Tumor Microenvironments , 2020, International journal of molecular sciences.
[5] Matthew D. Young,et al. Embryonal precursors of Wilms tumor , 2019, Science.
[6] J. Griniatsos,et al. Retroperitoneal perivascular epithelioid cell tumours: A case report and review of literature , 2019, World journal of clinical cases.
[7] N. Hosten,et al. Complexity of PEComas , 2019, Der Pathologe.
[8] N. Hosten,et al. [Complexity of PEComas : Diagnostic approach, molecular background, clinical management (German version)]. , 2019, Der Pathologe.
[9] F. Stengel,et al. Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients , 2019, Cells.
[10] W. Foulkes,et al. Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome , 2017, Clinical Cancer Research.
[11] T. Miyashita,et al. Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome , 2017, Journal of Medical Genetics.
[12] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[13] G. Jain,et al. Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Adrenal Gland: Report of a Rare Case Posing Diagnostic Challenge with the Role of Immunohistochemistry in the Diagnosis , 2015, Endocrine Pathology.
[14] I. Rivera,et al. Molecular evidence of type 2 mosaicism in Gorlin syndrome , 2013, The British journal of dermatology.
[15] K. Pacak,et al. First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome. , 2013, The Journal of clinical endocrinology and metabolism.
[16] K. Sporniak-Tutak,et al. Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach , 2012, Medical science monitor : international medical journal of experimental and clinical research.
[17] S. Lau. Malignant PEComa of the adrenal gland. , 2012, Pathology, research and practice.
[18] L. Muzio. Nevoid basal cell carcinoma syndrome (Gorlin syndrome) , 2008 .
[19] P. Mergo,et al. Bilateral adrenal cystic lymphangiomas in nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: US, CT, and MR findings. , 1999, Journal of computer assisted tomography.
[20] N. Kimura,et al. Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene. , 1999, Internal medicine.
[21] A. Goldstein,et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. , 1997, American journal of medical genetics.