| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | José Antonio López-Guerrero | |
| José Rubio-Briones | |||
| Antonio Fernández-Serra | |||
| Zaida García-Casado | |||
| P2860 | cites work | Von Hippel-Lindau disease. | Q52372308 |
| Practical and ethical issues with genetic screening. | Q53269523 | ||
| Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. | Q55033345 | ||
| Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. | Q55035771 | ||
| Inactivation of BHD in sporadic renal tumors. | Q55036699 | ||
| High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. | Q55040958 | ||
| The Heidelberg classification of renal cell tumours. | Q55067278 | ||
| Benefits of Screening in von Hippel-Lindau Disease – Comparison of Morbidity Associated with Initial Tumours in Affected Parents and Children | Q56068020 | ||
| Original Articles: Kidney Cancer: Hereditary Papillary Renal Cell Carcinoma: Clinical Studies in 10 Families | Q56522208 | ||
| Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency | Q73424214 | ||
| Incidental renal cell carcinoma-age and stage characterization and clinical implications: study of 1092 patients (1982-1997) | Q73930509 | ||
| Renal cell carcinoma | Q78020959 | ||
| Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome | Q81425828 | ||
| Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome | Q81634316 | ||
| Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma | Q83009175 | ||
| What is ideal genetic counselling? A survey of current international guidelines | Q37057830 | ||
| Molecular cancer therapy: can our expectation be MET? | Q37092832 | ||
| Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives | Q37163037 | ||
| Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding | Q40613613 | ||
| Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer | Q40615261 | ||
| Structural basis of oncogenic activation caused by point mutations in the kinase domain of the MET proto-oncogene: modeling studies | Q42828980 | ||
| Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours | Q43074055 | ||
| Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability | Q43074141 | ||
| Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. | Q43169670 | ||
| Antiangiogenic therapy for von Hippel-Lindau disease | Q44776023 | ||
| Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan | Q44846730 | ||
| Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene | Q44847024 | ||
| Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues | Q44895983 | ||
| Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas | Q45345804 | ||
| Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. | Q46417495 | ||
| Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations | Q46575022 | ||
| Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients | Q46943872 | ||
| Molecular genetic analysis of von Hippel-Lindau disease | Q47775632 | ||
| Rapid detection of VHL exon deletions using real-time quantitative PCR. | Q49125755 | ||
| Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function | Q22009393 | ||
| Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling | Q24306277 | ||
| Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America | Q24532663 | ||
| von Hippel-Lindau disease | Q28180159 | ||
| Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome | Q28219681 | ||
| Molecular basis of the VHL hereditary cancer syndrome | Q28220414 | ||
| HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability | Q29615945 | ||
| Increasing incidence of all stages of kidney cancer in the last 2 decades in the United States: an analysis of surveillance, epidemiology and end results program data | Q30666907 | ||
| Genetic and clinical aspects of familial renal neoplasms. | Q33893618 | ||
| A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax | Q33938690 | ||
| Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome | Q33938826 | ||
| Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. | Q33945016 | ||
| Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer | Q34115940 | ||
| Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents | Q34146220 | ||
| HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome | Q34159232 | ||
| Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. | Q34286240 | ||
| Searching for the hereditary causes of renal-cell carcinoma | Q34318015 | ||
| Hereditary papillary renal cell carcinoma: clinical studies in 10 families | Q34318458 | ||
| The changing natural history of renal cell carcinoma | Q34391104 | ||
| Inherited susceptibility to uterine leiomyomas and renal cell cancer | Q34514090 | ||
| von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. | Q34514928 | ||
| Benefits of screening in von Hippel-Lindau disease--comparison of morbidity associated with initial tumours in affected parents and children | Q34520100 | ||
| Germ-line mutations in nonsyndromic pheochromocytoma | Q34523021 | ||
| The pressure rises: update on the genetics of phaeochromocytoma | Q34527649 | ||
| Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer | Q34558244 | ||
| Studying cancer families to identify kidney cancer genes | Q35044182 | ||
| American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility | Q35105968 | ||
| Pheochromocytoma: the expanding genetic differential diagnosis | Q35203185 | ||
| Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene | Q35440133 | ||
| Molecular genetics of kidney cancer | Q35598229 | ||
| The growing family of hereditary renal cell carcinoma | Q35928846 | ||
| Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics | Q36718934 | ||
| Increased risk of cancer in patients with fumarate hydratase germline mutation | Q36930098 | ||
| P275 | copyright license | Creative Commons Attribution 3.0 Unported | Q14947546 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P304 | page(s) | 720840 | |
| P577 | publication date | 2008-11-09 | |
| P1433 | published in | Advances in Urology | Q15756218 |
| P1476 | title | Genetic counseling in renal masses |
Search more.