Results 141 to 150 of about 4,444,377 (217)

Hotspot mutations and tumour spectrum in von Hippel-Lindau syndrome: genotype-phenotype analysis of a large Chinese cohort. [PDF]

J Cancer Res Clin Oncol
Wang C, Qiu J, Liu T, Bao Y, Zhou J, Wang Y, Gong K.   +6 more
europepmc   +1 more source

Juxtapapillary retinal hemangioblastoma remission in a von Hippel-Lindau patient treated with cabozantinib. [PDF]

Am J Ophthalmol Case Rep
Sartore M, Maggio E, Ferrara AM, Basso U, Pertile G.   +4 more
europepmc   +1 more source

Gastric Neuroendocrine Tumor Presenting Atypically in von Hippel-Lindau Disease: A Case Report. [PDF]

J Kidney Cancer VHL
Chang J, Zhang Q, Liu Z, Bai Y, Ji H, Zhang HM.   +5 more
europepmc   +1 more source

Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease. [PDF]

Genet Med
Ritter DI, Badduke C, Doonanco K, Kang HC, Pesaran T, Ridd S, Sheen C, Farncombe KM, Giles RH, Luo M, Pipko N, Tsoi CT, McGoldrick K, Mighton C, Abu Kashabeh R, Sanabria-Salas MC, Talab Y, Deka KB, Jacobs MF, Tuzlali E, Gallinger B, Griffith M, Krysiak K, Machado J, Maher ER, Tirosh A, Kim RH.   +26 more
europepmc   +1 more source

A rare case of multiple papillary cystadenomas found in a female patient with von Hippel-Lindau syndrome. [PDF]

Int J Clin Exp Pathol
Hatakeyama H, Shioya I, Kawasaki Y, Suzuki M, Miura M, Hiroshima Y, Nanjo H, Omori Y.   +7 more
europepmc   +1 more source

Parapapillary retinal hemangioblastoma presenting as an epiretinal membrane in a patient with Von Hippel-Lindau disease: a case report. [PDF]

Front Med (Lausanne)
Liang L, Li Y, Jiang X, Lu F.
europepmc   +1 more source

Dissecting Hypoxia Inducible Factor-Driven High Bone Mass Phenotype in Mice Lacking Osteocytic Von Hippel-Lindau. [PDF]

JBMR Plus
Pantoja AP, Mendoza SV, Murugesh DK, Christiansen BA, Loots GG, Genetos DC, Yellowley CE.   +6 more
europepmc   +1 more source

Concurrent Von Hippel-Lindau disease and enhanced S-cone syndrome leading to a distinct retinal phenotype. [PDF]

Am J Ophthalmol Case Rep
AlEnazi M, Badawi AH, Alsakran WA, Magliyah MS.   +3 more
europepmc   +1 more source

Monitoring and treatment patterns of von Hippel-Lindau disease-associated central nervous system hemangioblastomas. [PDF]

Hered Cancer Clin Pract
Jonasch E, Song Y, Freimark J, Mohan M, Signorovitch J, Sundaram M.   +5 more
europepmc   +1 more source