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Journal Abstract Search

143 related items for PubMed ID: 38824681

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  • 3. Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.
    Kang HC, Kim IJ, Park JH, Shin Y, Jang SG, Ahn SA, Park HW, Lim SK, Oh SK, Kim DJ, Lee KW, Choi YS, Park YJ, Lee MR, Kim DW, Park JG.
    Oncol Rep; 2005 Oct; 14(4):879-83. PubMed ID: 16142346
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  • 4. Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family.
    Tong AL, Zeng ZP, Zhou YR, Yuan T, Cao CX, Zhang J, Li M.
    Chin Med Sci J; 2009 Dec; 24(4):197-201. PubMed ID: 20120764
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  • 6. von Hippel-Lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene.
    Miyagawa Y, Nakazawa M, Noda Y, Ito S, Ohguro H.
    Graefes Arch Clin Exp Ophthalmol; 2003 Mar; 241(3):241-4. PubMed ID: 12644949
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  • 8. Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.
    Sansó G, Rudaz MC, Levin G, Barontini M.
    Am J Hypertens; 2004 Dec; 17(12 Pt 1):1107-11. PubMed ID: 15607616
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  • 9. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
    Neumann HP, Eng C, Mulligan LM, Glavac D, Zäuner I, Ponder BA, Crossey PA, Maher ER, Brauch H.
    JAMA; 1995 Oct 11; 274(14):1149-51. PubMed ID: 7563486
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  • 10. Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.
    Lomte N, Kumar S, Sarathi V, Pandit R, Goroshi M, Jadhav S, Lila AR, Bandgar T, Shah NS.
    Fam Cancer; 2018 Jul 11; 17(3):441-449. PubMed ID: 29124493
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  • 12. The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
    Abbott MA, Nathanson KL, Nightingale S, Maher ER, Greenstein RM.
    Am J Med Genet A; 2006 Apr 01; 140(7):685-90. PubMed ID: 16502427
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  • 14. 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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  • 17. Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family.
    Mete T, Berker D, Yilmaz E, Ozgen G, Yalcin Y, Tuna M, Ciliz D, Onen M, Aydin Y, Guler S.
    Endocrine; 2014 Feb 27; 45(1):128-35. PubMed ID: 23673869
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  • 18. 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 27; 57(11):752-759. PubMed ID: 31996412
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  • 19. Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.
    Faiyaz-Ul-Haque M, Jamil M, Aslam M, Abalkhail H, Al-Dayel F, Basit S, Nawaz Z, Zaidi SHE.
    Cancer Genet; 2020 May 27; 243():1-6. PubMed ID: 32179488
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  • 20. VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma.
    Zhang B, Qian J, Chang DH, Wang YM, Zhou DH, Qiao GM.
    Asian Pac J Cancer Prev; 2015 May 27; 16(5):1977-80. PubMed ID: 25773797
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