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Journal Abstract Search

239 related items for PubMed ID: 12114495

  • 1. Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
    Cybulski C, Krzystolik K, Murgia A, Górski B, Debniak T, Jakubowska A, Martella M, Kurzawski G, Prost M, Kojder I, Limon J, Nowacki P, Sagan L, Białas B, Kałuza J, Zdunek M, Omulecka A, Jaskólski D, Kostyk E, Koraszewska-Matuszewska B, Haus O, Janiszewska H, Pecold K, Starzycka M, Słomski R, Cwirko M, Sikorski A, Gliniewicz B, Cyryłowski L, Fiszer-Maliszewska Ł, Gronwald J, Tołoczko-Grabarek A, Zajaczek S, Lubiński J.
    J Med Genet; 2002 Jul; 39(7):E38. PubMed ID: 12114495
    [No Abstract] [Full Text] [Related]

  • 2. Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.
    Dannenberg H, De Krijger RR, van der Harst E, Abbou M, IJzendoorn Y, Komminoth P, Dinjens WN.
    Int J Cancer; 2003 Jun 10; 105(2):190-5. PubMed ID: 12673678
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  • 5. Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
    Assadi F, Brackbill EL.
    Am J Kidney Dis; 2003 Jan 10; 41(1):E3. PubMed ID: 12500216
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  • 6. Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.
    Hes F, Zewald R, Peeters T, Sijmons R, Links T, Verheij J, Matthijs G, Leguis E, Mortier G, van der Torren K, Rosman M, Lips C, Pearson P, van der Luijt R.
    Hum Genet; 2000 Apr 10; 106(4):425-31. PubMed ID: 10830910
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  • 7. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
    Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, Pack S, Hurley K, Andrey C, Klausner R, Linehan WM.
    Hum Mutat; 1998 Apr 10; 12(6):417-23. PubMed ID: 9829911
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  • 8. Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
    Crossey PA, Eng C, Ginalska-Malinowska M, Lennard TW, Wheeler DC, Ponder BA, Maher ER.
    J Med Genet; 1995 Nov 10; 32(11):885-6. PubMed ID: 8592333
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  • 12. 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 10; 243():1-6. PubMed ID: 32179488
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  • 13. von Hippel-Lindau disease.
    Couch V, Lindor NM, Karnes PS, Michels VV.
    Mayo Clin Proc; 2000 Mar 10; 75(3):265-72. PubMed ID: 10725953
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  • 14. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
    Maher ER, Webster AR, Richards FM, Green JS, Crossey PA, Payne SJ, Moore AT.
    J Med Genet; 1996 Apr 10; 33(4):328-32. PubMed ID: 8730290
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  • 15. Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution.
    Eisenhofer G, Vocke CD, Elkahloun A, Huynh TT, Prodanov T, Lenders JW, Timmers HJ, Benhammou JN, Linehan WM, Pacak K.
    Horm Metab Res; 2012 May 10; 44(5):343-8. PubMed ID: 22438210
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  • 16. A family with von Hippel-Lindau disease revealed by pheochromocytoma.
    Tomita N, Moriguchi A, Yamasaki K, Taniyama Y, Kotani N, Hashiya N, Yoshida M, Yao M, Higaki J, Ogihara T.
    Hypertens Res; 2001 Jul 10; 24(4):445-50. PubMed ID: 11510758
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  • 17. 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 10; 17(12 Pt 1):1107-11. PubMed ID: 15607616
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  • 19. The von Hippel-Lindau tumor suppressor gene. A rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis.
    Decker HJ, Weidt EJ, Brieger J.
    Cancer Genet Cytogenet; 1997 Jan 10; 93(1):74-83. PubMed ID: 9062583
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  • 20. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
    Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, Webster AR, Affara NA, Ferguson-Smith MA, Brauch H, Glavac D, Neumann HP, Tisherman S, Mulvihill JJ, Gross DJ, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, Richard S, Lips CH, Lerman M.
    Hum Mutat; 1996 Jan 10; 8(4):348-57. PubMed ID: 8956040
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