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Items: 1 to 20 of 154

1.

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Gallou C, Chauveau D, Richard S, Joly D, Giraud S, Olschwang S, Martin N, Saquet C, Chrétien Y, Méjean A, Correas JM, Benoît G, Colombeau P, Grünfeld JP, Junien C, Béroud C.

Hum Mutat. 2004 Sep;24(3):215-24. Erratum in: Hum Mutat. 2004 Nov;24(5):435-6.

PMID:
15300849
2.

Tumors of the endolymphatic sac in von Hippel-Lindau disease.

Lonser RR, Kim HJ, Butman JA, Vortmeyer AO, Choo DI, Oldfield EH.

N Engl J Med. 2004 Jun 10;350(24):2481-6. No abstract available.

3.

Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.

Wait SD, Vortmeyer AO, Lonser RR, Chang DT, Finn MA, Bhowmick DA, Pack SD, Oldfield EH, Zhuang Z.

Ann Neurol. 2004 Feb;55(2):236-40.

PMID:
14755727
4.

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL, Butman JA, Jedlickova K, Prchal JT, Polyakova LA.

Blood. 2004 May 15;103(10):3924-32. Epub 2004 Jan 15.

5.

Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes.

Raja D, Benz MS, Murray TG, Escalona-Benz EM, Markoe A.

Ophthalmology. 2004 Jan;111(1):150-3.

PMID:
14711727
6.

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

Maranchie JK, Afonso A, Albert PS, Kalyandrug S, Phillips JL, Zhou S, Peterson J, Ghadimi BM, Hurley K, Riss J, Vasselli JR, Ried T, Zbar B, Choyke P, Walther MM, Klausner RD, Linehan WM.

Hum Mutat. 2004 Jan;23(1):40-6.

PMID:
14695531
7.

Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.

Corn PG, McDonald ER 3rd, Herman JG, El-Deiry WS.

Nat Genet. 2003 Nov;35(3):229-37. Epub 2003 Oct 12.

PMID:
14556007
8.

LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED.

MELMON KL, ROSEN SW.

Am J Med. 1964 Apr;36:595-617. No abstract available.

PMID:
14142412
9.

Pheochromocytoma associated with cerebellar hemangioblastoma. Familial occurrence.

CHAPMAN RC, DIAZ-PEREZ R.

JAMA. 1962 Dec 8;182:1014-7. No abstract available.

PMID:
14020160
10.

Familial pheochromocytoma.

TISHERMAN SE, GREGG FJ, DANOWSKI TS.

JAMA. 1962 Oct 13;182:152-6. No abstract available.

PMID:
13985160
11.

Von Hippel-Lindau's disease.

CHRISTOFERSON LA, GUSTAFSON MB, PETERSEN AG.

JAMA. 1961 Oct 21;178:280-2. No abstract available.

PMID:
13879311
12.

Von Hippel-Lindau disease.

THOMAS M, BURNSIDE RM.

Am J Ophthalmol. 1961 Jan;51:140-6. No abstract available.

PMID:
13776516
13.

Bilateral nephrogenic carcinomas in Lindau-Von Hippel disease.

KAPLAN C, SAYRE GP, GREENE LF.

J Urol. 1961 Jul;86:36-42. No abstract available.

PMID:
13751267
14.

Spinal hemangioma (hemangio-blastoma) in Lindau's disease.

OTENASEK FJ, SILVER ML.

J Neurosurg. 1961 May;18:295-300. No abstract available.

PMID:
13731582
15.

Chemokine receptor CXCR4 downregulated by von Hippel-Lindau tumour suppressor pVHL.

Staller P, Sulitkova J, Lisztwan J, Moch H, Oakeley EJ, Krek W.

Nature. 2003 Sep 18;425(6955):307-11.

16.

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

Pastore Y, Jedlickova K, Guan Y, Liu E, Fahner J, Hasle H, Prchal JF, Prchal JT.

Am J Hum Genet. 2003 Aug;73(2):412-9. Epub 2003 Jul 3. Erratum in: Am J Hum Genet. 2004 Mar;74(3):598.

17.

Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease.

Hes FJ, Höppener JW, Lips CJ.

J Clin Endocrinol Metab. 2003 Mar;88(3):969-74. Review. No abstract available.

PMID:
12629069
18.

Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

Hergovich A, Lisztwan J, Barry R, Ballschmieter P, Krek W.

Nat Cell Biol. 2003 Jan;5(1):64-70.

PMID:
12510195
19.

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT.

Nat Genet. 2002 Dec;32(4):614-21. Epub 2002 Nov 4.

PMID:
12415268
20.

VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.

Weirich G, Klein B, Wöhl T, Engelhardt D, Brauch H.

J Clin Endocrinol Metab. 2002 Nov;87(11):5241-6.

PMID:
12414898

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