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Journal Abstract Search

213 related items for PubMed ID: 9156047

  • 1. Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.
    Garcia A, Matias-Guiu X, Cabezas R, Chico A, Prat J, Baiget M, De Leiva A.
    Clin Endocrinol (Oxf); 1997 Mar; 46(3):359-63. PubMed ID: 9156047
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  • 3. 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; 32(11):885-6. PubMed ID: 8592333
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  • 5. Genetic study of a large Chinese kindred with von Hippel-Lindau disease.
    Huang YR, Zhang J, Wang JD, Fan XD.
    Chin Med J (Engl); 2004 Apr; 117(4):552-7. PubMed ID: 15109448
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  • 7. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
    Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra JR, Orcutt ML, Duh FM, Glenn G.
    Hum Mutat; 1995 Apr; 5(1):66-75. PubMed ID: 7728151
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  • 9. Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.
    Allen RC, Webster AR, Sui R, Brown J, Taylor CM, Stone EM.
    Arch Ophthalmol; 2001 Nov; 119(11):1659-65. PubMed ID: 11709017
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  • 11. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.
    Neumann HP, Berger DP, Sigmund G, Blum U, Schmidt D, Parmer RJ, Volk B, Kirste G.
    N Engl J Med; 1993 Nov 18; 329(21):1531-8. PubMed ID: 8105382
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  • 13. Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype.
    Alhawari H, Obeidat Z, Wahbeh L, Mismar A, Younis N, Jafar H, Momani M, Alsabatin N, Awidi A, Alhawari H.
    Blood Press; 2024 Dec 18; 33(1):2355268. PubMed ID: 38824681
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  • 14. Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
    Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.
    Hum Mol Genet; 1997 Jul 18; 6(7):1051-6. PubMed ID: 9215674
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  • 18. 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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  • 20. von Hippel Lindau disease with colon adenocarcinoma, renal cell carcinoma and adrenal pheochromocytoma.
    Zinnamosca L, Laudisi A, Petramala L, Marinelli C, Roselli M, Vitolo D, Montesani C, Letizia C.
    Intern Med; 2013 Feb 27; 52(14):1599-603. PubMed ID: 23857093
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