Genetic Mutation Screening in an Italian Cohort of Nonsyndromic Pheochromocytoma/Paraganglioma Patients
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M. Castellano | C. Cappelli | F. Veglio | P. Mulatero | E. Agabiti-Rosei | L. Mori | M. Giacché | D. Cumetti | A. Panarotto | E. Agliozzo | R. Tosini
[1] Peter Devilee,et al. The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency , 2005, BMC Medical Genetics.
[2] C. Eng,et al. Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. , 2004, The Journal of clinical endocrinology and metabolism.
[3] R. Ferrell,et al. An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma , 2004, Journal of Medical Genetics.
[4] C. Eng,et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. , 2004, JAMA.
[5] M. Fraga,et al. Genetic and epigenetic profile of sporadic pheochromocytomas , 2004, Journal of Medical Genetics.
[6] D. Evans,et al. Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility , 2003, Clinical endocrinology.
[7] P. Rustin,et al. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. , 2003, Cancer research.
[8] J. Benítez,et al. G12S and H50R variations are polymorphisms in the SDHD gene , 2003, Genes, chromosomes & cancer.
[9] E. Leteurtre,et al. Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes , 2003, Journal of medical genetics.
[10] D. Marsh,et al. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas , 2003, Oncogene.
[11] P. Rustin,et al. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. , 2002, The Journal of clinical endocrinology and metabolism.
[12] J. Benítez,et al. SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation , 2002, Journal of medical genetics.
[13] J. Strauchen. Germ-line mutations in nonsyndromic pheochromocytoma. , 2002, The New England journal of medicine.
[14] B. Baysal. Hereditary paraganglioma targets diverse paraganglia , 2002, Journal of medical genetics.
[15] J. Benítez,et al. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma , 2002, European Journal of Human Genetics.
[16] C. Larsson,et al. Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas , 2002, Genes, chromosomes & cancer.
[17] S. Nakamura,et al. Detection of circulating cancer cells with von hippel-lindau gene mutation in peripheral blood of patients with renal cell carcinoma. , 2000, Clinical cancer research : an official journal of the American Association for Cancer Research.
[18] H. Bonjer,et al. Germline mutations in the vhl gene in patients presenting with phaeochromocytomas , 1998, International journal of cancer.
[19] H. Brauch,et al. Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. , 1997, The Journal of clinical endocrinology and metabolism.
[20] X. Jeunemaître,et al. Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas. , 1997, Hormone research.
[21] R. Hofstra,et al. Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. , 1996, The Journal of clinical endocrinology and metabolism.
[22] K. Nakao,et al. The RET proto-oncogene in sporadic pheochromocytomas. , 1996, Internal medicine.
[23] S. Chew,et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. , 1995, Journal of medical genetics.
[24] J. Corvol,et al. The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects. , 1995, The Journal of clinical endocrinology and metabolism.
[25] S. Thibodeau,et al. Mutations in the RET protooncogene in sporadic pheochromocytomas. , 1995, The Journal of clinical endocrinology and metabolism.
[26] W. Linehan,et al. Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype , 1995, Human mutation.
[27] C. Larsson,et al. Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s. , 1994, Human molecular genetics.
[28] M. Lerman,et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. , 1994, Human molecular genetics.
[29] P. Maaswinkel-Mooy,et al. GENOMIC IMPRINTING IN HEREDITARY GLOMUS TUMOURS: EVIDENCE FOR NEW GENETIC THEORY , 1989, The Lancet.
[30] M. Gillman,et al. Familial carotid body tumors: Case report and epidemiologic review , 1980, Cancer.