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Journal Abstract Search

291 related items for PubMed ID: 16502427

  • 1. 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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  • 2. 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 01; 243():1-6. PubMed ID: 32179488
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  • 3. Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
    Wittström E, Nordling M, Andréasson S.
    Ophthalmic Genet; 2014 Jun 01; 35(2):91-106. PubMed ID: 24555745
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  • 6. 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 01; 24(4):445-50. PubMed ID: 11510758
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  • 7. Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.
    Gergics P, Patocs A, Toth M, Igaz P, Szucs N, Liko I, Fazakas F, Szabo I, Kovacs B, Glaz E, Racz K.
    Eur J Endocrinol; 2009 Sep 01; 161(3):495-502. PubMed ID: 19574279
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  • 12. Genotype-phenotype correlations in VHL exon deletions.
    McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER.
    Am J Med Genet A; 2009 Oct 01; 149A(10):2147-51. PubMed ID: 19764026
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  • 16. A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.
    Iida K, Okimura Y, Takahashi K, Inomata S, Iguchi G, Kaji H, Chihara K.
    Int J Mol Med; 2004 Mar 01; 13(3):401-4. PubMed ID: 14767570
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  • 19. 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 01; 33(1):2355268. PubMed ID: 38824681
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  • 20. The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
    Gläsker S, Bender BU, Apel TW, Natt E, van Velthoven V, Scheremet R, Zentner J, Neumann HP.
    J Neurol Neurosurg Psychiatry; 1999 Dec 01; 67(6):758-62. PubMed ID: 10567493
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