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Journal Abstract Search

327 related items for PubMed ID: 31996412

  • 1. 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; 57(11):752-759. PubMed ID: 31996412
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  • 2. 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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  • 3. Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.
    Choi H, Kim KJ, Hong N, Shin S, Choi JR, Kang SW, Lee ST, Rhee Y.
    Endocrinol Metab (Seoul); 2020 Dec 02; 35(4):858-872. PubMed ID: 33397040
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  • 4. Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.
    Anno M, Izawa S, Fujioka Y, Matsuzawa K, Saito K, Hikita K, Makishima K, Nosaka K, Takenaka A, Usui T, Yamamoto K.
    Endocr J; 2022 Sep 28; 69(9):1137-1147. PubMed ID: 35466127
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  • 11. 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 28; 128(2):117-124. PubMed ID: 28849724
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  • 12. Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.
    Gaal J, van Nederveen FH, Erlic Z, Korpershoek E, Oldenburg R, Boedeker CC, Kontny U, Neumann HP, Dinjens WN, de Krijger RR.
    J Clin Endocrinol Metab; 2009 Nov 28; 94(11):4367-71. PubMed ID: 19808854
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  • 18. Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.
    Kim JH, Seong MW, Lee KE, Choi HJ, Ku EJ, Bae JH, Park SS, Choi SH, Kim SW, Shin C, Kim SY.
    Clin Genet; 2014 Nov 28; 86(5):482-6. PubMed ID: 24134185
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  • 20. Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.
    Gomy I, Molfetta GA, de Andrade Barreto E, Ferreira CA, Zanette DL, Casali-da-Rocha JC, Silva WA.
    Fam Cancer; 2010 Dec 28; 9(4):635-42. PubMed ID: 20567917
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