Genotype-phenotype correlations in von Hippel-Lindau disease. - Wikidata - awgldk - TriplyDB

Genotype-phenotype correlations in von Hippel-Lindau disease.

Genotype-phenotype correlations in von Hippel-Lindau disease.

http://www.wikidata.org/entity/Q30357251

about

von Hippel-Lindau disease: a clinical and scientific review Neuroimaging in pediatric phakomatoses. An educational review.Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.Identification of 3 novel VHL germ-line mutations in Danish VHL patients Role of the ubiquitin proteasome system in renal cell carcinoma.Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.VHL, the story of a tumour suppressor gene.Ocular von Hippel-Lindau disease: clinical update and emerging treatments.A novel germline mutation of the VHL gene in a Greek family with Von Hippel-Lindau disease Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.Impact of genetics on the diagnosis and treatment of renal cancer.Mosaicism in von Hippel-Lindau disease: an event important to recognize.Familial renal cancer: molecular genetics and surgical management.Expression of pre-selected TMEMs with predicted ER localization as potential classifiers of ccRCC tumors.Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma Clinical and molecular features associated with cystic visceral lesions in von hippel-lindau disease Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau Syndrome.Proteostasis modulators prolong missense VHL protein activity and halt tumor progression Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice.Patient-specific factors influence somatic variation patterns in von Hippel-Lindau disease renal tumours.The HIF/VHL pathway: from oxygen sensing to innate immunity.Von Hippel-Lindau disease: an evaluation of natural history and functional disability Genetic signature for human risk assessment: lessons from trichloroethylene Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.The clinical implications of the genetics of renal cell carcinoma Canadian guideline on genetic screening for hereditary renal cell cancers Hereditary kidney cancer syndromes.Neuroendocrine tumors and tumor syndromes in childhood.Neurooncology of familial cancer syndromes.Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.Translational research in endocrine surgery.Familial syndromes associated with intracranial tumours: a review.

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P2860

Genotype-phenotype correlations in von Hippel-Lindau disease.

http://www.wikidata.org/entity/Q30357251

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2007 nî lūn-bûn

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2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2007 թվականի փետրվարին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Genotype-phenotype correlations in von Hippel-Lindau disease.

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Genotype-phenotype correlations in von Hippel-Lindau disease.

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Genotype-phenotype correlations in von Hippel-Lindau disease.

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Genotype-phenotype correlations in von Hippel-Lindau disease.

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Genotype-phenotype correlations in von Hippel-Lindau disease.

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Genotype-phenotype correlations in von Hippel-Lindau disease.

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Genotype-phenotype correlations in von Hippel-Lindau disease

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Caron Lim

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Emma R Woodward

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Fiona Macdonald

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Kai Ren Ong

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Pip Killick

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P2860

The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients.

Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation.

Complete radiological and metabolic response of metastatic renal cell carcinoma to SU5416 (semaxanib) in a patient with probable von Hippel-Lindau syndrome.

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10.1002/HUMU.20385

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2

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28

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17024664

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