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A protocol for the development of core outcome sets for effectiveness trials and clinical audits in renal cell cancer (R‐COS).
- Published in:
- BJUI Compass, 2023, v. 4, n. 5, p. 504, doi. 10.1002/bco2.266
- By:
- Publication type:
- Article
Reply to "von Hippel–Lindau disease integrated care pathway: Centralizing, expanding specialists' theatre, and measuring improvement".
- Published in:
- Cancer (0008543X), 2022, v. 128, n. 22, p. 4029, doi. 10.1002/cncr.34461
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- Publication type:
- Article
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1268, doi. 10.1002/humu.24392
- By:
- Publication type:
- Article
Multidisciplinary integrated care pathway for von Hippel–Lindau disease.
- Published in:
- Cancer (0008543X), 2022, v. 128, n. 15, p. 2871, doi. 10.1002/cncr.34265
- By:
- Publication type:
- Article
Co-creating with patients an impact framework across the medicine's life cycle: a qualitative study exploring patients' experiences of involvement in and perceptions of impact measures.
- Published in:
- Research Involvement & Engagement, 2022, v. 8, n. 1, p. 1, doi. 10.1186/s40900-022-00334-0
- By:
- Publication type:
- Article
Is There a Role for Biomarkers in Surveillance of Pancreatic Neuroendocrine Neoplasms in Von Hippel-Lindau Disease?
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 2, p. 1, doi. 10.1210/jendso/bvab191
- By:
- Publication type:
- Article
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2179, doi. 10.1002/humu.24127
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- Publication type:
- Article
Axitinib plus Immuncheckpoint-Inhibitor: evidenz- und expertenbasierte Konsensusempfehlungen für die Behandlungsoptimierung und das Management von therapieassoziierten Nebenwirkungen.
- Published in:
- Kompass Onkologie, 2020, v. 7, n. 4, p. 180, doi. 10.1159/000513091
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- Publication type:
- Article
Axitinib plus immune checkpoint inhibitor: evidence- and expert-based consensus recommendation for treatment optimisation and management of related adverse events.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Adipogenesis: A Complex Interplay of Multiple Molecular Determinants and Pathways.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4283, doi. 10.3390/ijms21124283
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- Publication type:
- Article
Control of Angiogenesis via a VHL/miR-212/132 Axis.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 1017, doi. 10.3390/cells9041017
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- Publication type:
- Article
Clear cell chondrosarcoma in Von Hippel-Lindau disease.
- Published in:
- Familial Cancer, 2020, v. 19, n. 1, p. 41, doi. 10.1007/s10689-019-00149-1
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- Publication type:
- Article
Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 461, doi. 10.1111/cge.13613
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- Publication type:
- Article
Macrophytes moderate the taxonomic and functional composition of phytoplankton assemblages during a nutrient loading experiment.
- Published in:
- Freshwater Biology, 2019, v. 64, n. 8, p. 1369, doi. 10.1111/fwb.13311
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- Publication type:
- Article
The incidence of consecutive manifestations in Von Hippel-Lindau disease.
- Published in:
- Familial Cancer, 2019, v. 18, n. 3, p. 369, doi. 10.1007/s10689-019-00131-x
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- Publication type:
- Article
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
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- Publication type:
- Article
Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.
- Published in:
- Experimental & Molecular Medicine EMM, 2018, v. 50, n. 6, p. 1, doi. 10.1038/s12276-018-0108-z
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- Publication type:
- Article
<italic>TCF21</italic> hypermethylation regulates renal tumor cell clonogenic proliferation and migration.
- Published in:
- Molecular Oncology, 2018, v. 12, n. 2, p. 166, doi. 10.1002/1878-0261.12149
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- Publication type:
- Article
Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02536-7
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- Publication type:
- Article
The 4C framework for making reasonable adjustments for people with learning disabilities.
- Published in:
- Nursing Standard, 2017, v. 31, n. 21, p. 45, doi. 10.7748/ns.2017.e10152
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- Publication type:
- Article
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
- Published in:
- Nature Communications, 2016, v. 7, n. 12, p. 13840, doi. 10.1038/ncomms13840
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- Publication type:
- Article
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
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- Publication type:
- Article
Nephronophthisis: should we target cysts or fibrosis?
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 4, p. 545, doi. 10.1007/s00467-015-3162-y
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- Publication type:
- Article
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1039, doi. 10.1002/humu.22846
- By:
- Publication type:
- Article
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3657, doi. 10.1172/JCI80657
- By:
- Publication type:
- Article
Expression of pre-selected TMEMs with predicted ER localization as potential classifiers of ccRCC tumors.
- Published in:
- BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1530-4
- By:
- Publication type:
- Article
Ex vivo exposure of bone marrow from chronic kidney disease donor rats to pravastatin limits renal damage in recipient rats with chronic kidney disease.
- Published in:
- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0064-7
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- Publication type:
- Article
3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders.
- Published in:
- Nature Protocols, 2014, v. 9, n. 12, p. 2725, doi. 10.1038/nprot.2014.181
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- Publication type:
- Article
Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004594
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- Publication type:
- Article
Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004371
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- Publication type:
- Article
Birt–Hogg–Dubé syndrome is a novel ciliopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4383, doi. 10.1093/hmg/ddt288
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- Publication type:
- Article
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients.
- Published in:
- Journal of Pathology, 2013, v. 231, n. 1, p. 117, doi. 10.1002/path.4219
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- Publication type:
- Article
Pregnancy and von Hippel-Lindau disease.
- Published in:
- Journal of Neurosurgery, 2013, v. 118, n. 6, p. 1380, doi. 10.3171/2012.11.JNS122145
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- Publication type:
- Article
Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003384
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- Publication type:
- Article
Human Embryonic Mesenchymal Stem Cell-Derived Conditioned Medium Rescues Kidney Function in Rats with Established Chronic Kidney Disease.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038746
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- Publication type:
- Article
A role for central spindle proteins in cilia structure and function.
- Published in:
- Cytoskeleton, 2011, v. 68, n. 2, p. 112, doi. 10.1002/cm.20498
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- Publication type:
- Article
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 840, doi. 10.1038/ng.662
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- Publication type:
- Article
Genetic analysis of von Hippel-Lindau disease.
- Published in:
- 2010
- By:
- Publication type:
- Other
THE HISTORY OF THE AQUANAUTS OF CLEAR LAKE.
- Published in:
- Touchstone, 2009, v. 28, p. 29
- By:
- Publication type:
- Article
Presence of HIF-1 and related genes in normal mucosa, adenomas and carcinomas of the colorectum.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2008, v. 452, n. 5, p. 535
- By:
- Publication type:
- Article
Allele-specific regulation of primary cilia function by the von Hippel–Lindau tumor suppressor.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 73, doi. 10.1038/sj.ejhg.5201930
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- Publication type:
- Article
The von Hippel–Lindau tumour suppressor interacts with microtubules through kinesin-2
- Published in:
- FEBS Letters, 2007, v. 581, n. 24, p. 4571, doi. 10.1016/j.febslet.2007.08.050
- By:
- Publication type:
- Article
GluDy allele variations in Aegilops tauschii and Triticum aestivum: implications for the origins of hexaploid wheats.
- Published in:
- Theoretical & Applied Genetics, 2006, v. 112, n. 8, p. 1563, doi. 10.1007/s00122-006-0259-5
- By:
- Publication type:
- Article
Principles of Molecular Oncology.
- Published in:
- 2005
- By:
- Publication type:
- Book Review
Fibronectin is a hypoxia-independent target of the tumor suppressor VHL
- Published in:
- FEBS Letters, 2004, v. 556, n. 1-3, p. 137, doi. 10.1016/S0014-5793(03)01392-9
- By:
- Publication type:
- Article
Mutations in the APC tumour suppressor gene cause chromosomal instability.
- Published in:
- Nature Cell Biology, 2001, v. 3, n. 4, p. 433, doi. 10.1038/35070129
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- Publication type:
- Article
Two-colour FISH detection of the inv(16) in interphase nuclei of patients with acute myeloid leukaemia.
- Published in:
- British Journal of Haematology, 1999, v. 106, n. 1, p. 111, doi. 10.1046/j.1365-2141.1999.01521.x
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- Publication type:
- Article
Book review.
- Published in:
- 1999
- By:
- Publication type:
- Book Review
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.
- Published in:
- Oncogene, 1999, v. 18, n. 2, p. 543, doi. 10.1038/sj.onc.1202321
- By:
- Publication type:
- Article
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
- Published in:
- Nature, 1995, v. 376, n. 6538, p. 348, doi. 10.1038/376348a0
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- Publication type:
- Article