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Journal Abstract Search

269 related items for PubMed ID: 29891534

  • 1. Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
    Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.
    Blood; 2018 Aug 02; 132(5):469-483. PubMed ID: 29891534
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  • 2. Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
    Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP.
    J Med Genet; 2020 Nov 02; 57(11):752-759. PubMed ID: 31996412
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  • 5. Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.
    Liu F, Calhoun B, Alam MS, Sun M, Wang X, Zhang C, Haldar K, Lu X.
    BMC Med Genet; 2020 Feb 27; 21(1):42. PubMed ID: 32106822
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  • 6. Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient.
    Núñez-Martínez PM, Taja-Chayeb L, Ramírez-Otero MA, Fragoso-Ontiveros V, Wegman-Ostrosky T, Cruz-Robles D, Vidal Millán S.
    Bol Med Hosp Infant Mex; 2021 May 03; 78(4):341-345. PubMed ID: 33938902
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  • 9. Genetic basis of unexplained erythrocytosis in Indian patients.
    Mallik N, Sharma P, Kaur Hira J, Chhabra S, Sreedharanunni S, Kumar N, Naseem S, Sachdeva MUS, Ahluwalia J, Malhotra P, Varma N, Varma S, Das R.
    Eur J Haematol; 2019 Aug 03; 103(2):124-130. PubMed ID: 31132167
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  • 10. Concurrent heterozygous Von-Hippel-Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis.
    Negro A, Graiani G, Nicoli D, Farnetti E, Casali B, Verzicco I, Tedeschi S, Ghirarduzzi A, Cannone V, Marco LDE, Filice A, Gemelli G, Giunta A, Cabassi A.
    J Hypertens; 2020 Feb 03; 38(2):340-346. PubMed ID: 31568062
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  • 11. rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics.
    Remenyi G, Bereczky Z, Gindele R, Ujfalusi A, Illes A, Udvardy M.
    Pathol Oncol Res; 2021 Feb 03; 27():1609987. PubMed ID: 34899081
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  • 12. Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
    Lee JS, Lee JH, Lee KE, Kim JH, Hong JM, Ra EK, Seo SH, Lee SJ, Kim MJ, Park SS, Seong MW.
    BMC Med Genet; 2016 Jul 20; 17(1):48. PubMed ID: 27439424
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  • 13. Mutations in the VHL gene in sporadic apparently congenital polycythemia.
    Pastore YD, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, Krishnamurti L, Prchal JT.
    Blood; 2003 Feb 15; 101(4):1591-5. PubMed ID: 12393546
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  • 14. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.
    Lanikova L, Lorenzo F, Yang C, Vankayalapati H, Drachtman R, Divoky V, Prchal JT.
    Blood; 2013 May 09; 121(19):3918-24. PubMed ID: 23538339
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  • 15. Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.
    Glushkova M, Dimova P, Yordanova I, Todorov T, Tourtourikov I, Mitev V, Todorova A.
    Int J Neurosci; 2018 Feb 09; 128(2):117-124. PubMed ID: 28849724
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  • 16. Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases.
    Rodrigues CD, Pombal R, Pereira J, Relvas L, Cunha E, Almeida JC, Maia T, Silva H, Bento C.
    EJHaem; 2022 Aug 09; 3(3):989-991. PubMed ID: 36051068
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  • 18. Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
    Wu P, Zhang N, Wang X, Ning X, Li T, Bu D, Gong K.
    J Hum Genet; 2012 Apr 09; 57(4):238-43. PubMed ID: 22357542
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