von Hippel-Lindau syndrome

Richards FM et al. (1993) Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis.

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Gallou C et al. (1999) Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

Bradley JF et al. (1999) Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

Hoffman MA et al. (2001) von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

Mahon PC et al. (2001) FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity.

Zatyka M et al. (2002) Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.

TISHERMAN SE et al. (1962) Familial pheochromocytoma.

Corn PG et al. (2003) Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.

Neumann HP et al. (1991) Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.

Ong KR et al. (2007) Genotype-phenotype correlations in von Hippel-Lindau disease.

Nordstrom-O'Brien M et al. (2010) Genetic analysis of von Hippel-Lindau disease.

Maher ER et al. (1990) Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.

Chen F et al. (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

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Herman JG et al. (1994) Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.

Crossey PA et al. (1994) Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

Crossey PA et al. (1994) Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours.

Latif F et al. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene.

Chen F et al. (1996) Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

Zbar B et al. (1996) Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

Schimke RN et al. (1998) Functioning carotid paraganglioma in the von Hippel-Lindau syndrome.

Cascón A et al. (2007) Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.

King CR et al. (1987) Proximal 3p deletion in renal cell carcinoma cells from a patient with von Hippel-Lindau disease.

Pack SD et al. (1999) Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization.

Sgambati MT et al. (2000) Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.

Webster AR et al. (2000) Risk of multisystem disease in isolated ocular angioma (haemangioblastoma)

Fukino K et al. (2000) A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene.

Hes F et al. (2000) Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

McCabe CM et al. (2000) Juxtapapillary capillary hemangiomas. Clinical features and visual acuity outcomes.

Hes FJ et al. (2000) Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.

None (2001) Genotype-phenotype correlation in von Hippel-Lindau syndrome.

Eisenhofer G et al. (2001) Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes.

Lui WO et al. (2002) Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome.

Tsuda H et al. (1976) Familial bilateral papillary cystadenoma of the epididymis: report of three cases in siblings.

Hes FJ et al. (2003) Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease.

Glenn GM et al. (1992) Screening for von Hippel-Lindau disease by DNA polymorphism analysis.

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None (1961) Lindau's disease; report of an unusual case and two additional cases in a Negro family.

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Lenz T et al. (1992) Hyperreninemia and secondary hyperaldosteronism in a patient with pheochromocytoma and von Hippel-Lindau disease.

Raja D et al. (2004) Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes.

Probst A et al. (1978) Von Hippel-Lindau's Disease, syringomyelia and multiple endocrine tumors: a complex neuroendocrinopathy.

Lonser RR et al. (2004) Tumors of the endolymphatic sac in von Hippel-Lindau disease.

Keeler LL et al. (1992) Von Hippel-Lindau disease and renal cell carcinoma in a 16-year-old boy.

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None (2005) Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations.

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Wong WT et al. (2007) Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.

Butman JA et al. (2007) Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease.

Maher ER et al. (1991) Von Hippel-Lindau disease: a genetic study.

Franke G et al. (2009) Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.

Ciotti P et al. () Germline mutations in the von Hippel-Lindau gene in Italian patients.

McNeill A et al. (2009) Genotype-phenotype correlations in VHL exon deletions.

Maher ER et al. (1990) Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis.

Kovacs G et al. (1991) Nonhomologous chromatid exchange in hereditary and sporadic renal cell carcinomas.

Seizinger BR et al. (1991) Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

Glenn GM et al. (1991) Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus.

Wu P et al. (2012) Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

Hosoe S et al. (1990) Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3.

Vance JM et al. (1990) Confirmation of linkage in von Hippel-Lindau disease.

Korn WT et al. (1990) Papillary cystadenoma of the broad ligament in von Hippel-Lindau disease.

Lamiell JM et al. (1989) von Hippel-Lindau disease affecting 43 members of a single kindred.

Horbach JM et al. (1989) A forme fruste of von Hippel-Lindau disease: a combination of adrenal pheochromocytoma and ipsilateral renal cell carcinoma--a case report.

Kiechle-Schwarz M et al. (1989) Cytogenetic studies on three pheochromocytomas derived from patients with von Hippel-Lindau syndrome.

Tory K et al. (1989) Specific genetic change in tumors associated with von Hippel-Lindau disease.

Seizinger BR et al. (1988) Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma.

Decker HJ et al. (1988) 3p involvement in a renal cell carcinoma in von Hippel-Lindau syndrome. Region of tumor breakpoint clustering on 3p?

Jennings AM et al. (1988) Von Hippel-Lindau disease in a large British family: clinicopathological features and recommendations for screening and follow-up.

Gersell DJ et al. (1988) Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau disease.

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None (1978) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 1--1978.

Cameron SJ et al. (1970) Cerebellar tumours presenting with clinical features of phaeochromocytoma.

Fishman RS et al. (1979) Severe pancreatic involvement in three generations in von Hippel-Lindau disease.

Atuk NO et al. (1979) Familial pheochromocytoma, hypercalcemia, and von Hippel-Lindau disease. A ten year study of a large family.

Brown DG et al. (1973) Wyburn-Mason syndrome. Report of two cases without retinal involvement.

Goldberg MF et al. (1968) Von Hippel-Lindau disease. Histopathologic findings in a treated and an untreated eye.

Wise KS et al. (1971) von Hippel-Lindau's disease and phaeochromocytoma.

None (1971) Papillary cystadenoma of the epididymis. A clinicopathologic analysis of 20 cases.

Sander S et al. (1970) Pheochromocytoma associated with von Hippel-Lindau's disease in a family.

None (1970) Von Hippel-Lindau syndrome: a report on three kindreds.

Sharp WV et al. (1971) Familial pheochromocytoma. Association with von Hippel-Lindau's disease.

Fill WL et al. (1979) The radiographic manifestations of von Hippel-Lindau disease.

Nibbelink DW et al. (1969) On the association of pheochromocytoma and cerebellar hemangioblastoma.

None (1969) Von Hippel-Lindau's disease: a report of five cases.

None (1966) Case records of the Massachusetts General Hospital. Case 47-1966.

Hennessy TG et al. (1967) Cerebellar hemangioblastoma: erythropoietic activity by radioiron assay.

Go RC et al. (1984) Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred.

Hull MT et al. (1982) Metastatic carotid body paraganglioma in von Hippel-Lindau disease. An electron microscopic study.

Wesolowski DP et al. (1981) Hippel-Lindau syndrome in identical twins.

Kerr DJ et al. (1995) Hemangioblastoma of the optic nerve: case report.

Gaffey MJ et al. (1994) Aggressive papillary tumor of middle ear/temporal bone and adnexal papillary cystadenoma. Manifestations of von Hippel-Lindau disease.

Davies DR et al. (1994) Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier.

Karsdorp N et al. (1994) Von Hippel-Lindau disease: new strategies in early detection and treatment.

Richards FM et al. (1994) Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.

Richards FM et al. (1993) Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.

Maddock IR et al. (1996) A genetic register for von Hippel-Lindau disease.

None (1997) Aberrant methylation in cancer.

Prowse AH et al. (1997) Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

Manski TJ et al. (1997) Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease.

Bender BU et al. (1997) Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome.

Horton WA et al. (1976) Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members.

Webster AR et al. (1998) An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.

Stolle C et al. (1998) Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

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