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Publications by Leonardo D’Agruma
An 11-Bp Duplication in the Promoter Region of the VHL Gene in a Patient With Cerebellar Hemangioblastoma and Renal Oncocytoma
Journal of Human Genetics
Genetics
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Association of a New 99-Bp Indel of the CEL Gene Promoter Region With Phenotypic Traits in Chickens
Scientific Reports
Multidisciplinary
Discontinuation of LDL Apheresis With Evolocumab in an FH Patient With a Duplication of Exon 2–6 in the LDLR Gene
Journal of Cardiology Cases
Cardiovascular Medicine
Cardiology
A Case of Carotid Body Paraganglioma and Haemangioblastoma of the Spinal Cord in a Patient With the N131K Missense Mutation in the VHL Gene
Neurological Sciences
Dermatology
Medicine
Psychiatry
Neurology
Mental Health
Nrf2 Gene Mutation and Single Nucleotide Polymorphism Rs6721961 of the Nrf2 Promoter Region in Renal Cell Cancer
BMC Cancer
Cancer Research
Oncology
Genetics
Silencing of the VHL Tumor-Suppressor Gene by DNA Methylation in Renal Carcinoma.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Rb1/Rbl1/VHL Loss Induces Mouse Subretinal Angiomatous Proliferation and Hemangioblastoma
JCI insight
Medicine
The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences With the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis if Mutated in a Critical Region
American Journal of Human Genetics
Genetics
CA Repeat Polymorphism in the Promoter Region of the COL1A2 Gene
Journal of Human Genetics
Genetics
Comparative Cytological Evaluation of Renal Oncocytoma and Renal Cell Carcinoma in the Same Kidney.
The Journal of the Japanese Society of Clinical Cytology
