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Items: 1 to 20 of 110

1.

Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.

Deng WT, Dyka FM, Dinculescu A, Li J, Zhu P, Chiodo VA, Boye SL, Conlon TJ, Erger K, Cossette T, Hauswirth WW.

Hum Gene Ther. 2015 Sep;26(9):593-602. doi: 10.1089/hum.2015.035. Epub 2015 Jul 29.

2.

Editorial: Management of hemangioblastomas in patients with von Hippel-Lindau disease: stereotactic radiosurgery compared to surgical excision.

Oldfield EH.

J Neurosurg. 2015 Jun;122(6):1466-8. doi: 10.3171/2015.2.JNS15252. Epub 2015 Mar 27. No abstract available.

PMID:
25816089
3.

Stereotactic radiosurgery for intracranial hemangioblastomas: a retrospective international outcome study.

Kano H, Shuto T, Iwai Y, Sheehan J, Yamamoto M, McBride HL, Sato M, Serizawa T, Yomo S, Moriki A, Kohda Y, Young B, Suzuki S, Kenai H, Duma C, Kikuchi Y, Mathieu D, Akabane A, Nagano O, Kondziolka D, Lunsford LD.

J Neurosurg. 2015 Jun;122(6):1469-78. doi: 10.3171/2014.10.JNS131602. Epub 2015 Mar 27.

PMID:
25816088
4.

Dr. Arvid Lindau and discovery of von Hippel-Lindau disease.

Huntoon K, Oldfield EH, Lonser RR.

J Neurosurg. 2015 Oct;123(4):1093-7. doi: 10.3171/2015.1.JNS131963. Epub 2015 Mar 6.

PMID:
25748307
5.

VHL, the story of a tumour suppressor gene.

Gossage L, Eisen T, Maher ER.

Nat Rev Cancer. 2015 Jan;15(1):55-64. doi: 10.1038/nrc3844. Review.

PMID:
25533676
6.

Renal tumor size is an independent prognostic factor for overall survival in von Hippel-Lindau disease.

Kwon T, Jeong IG, Pak S, You D, Song C, Hong JH, Ahn H, Kim CS.

J Cancer Res Clin Oncol. 2014 Jul;140(7):1171-7. doi: 10.1007/s00432-014-1654-y. Epub 2014 Mar 27.

PMID:
24671227
7.

Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease.

Lonser RR, Butman JA, Huntoon K, Asthagiri AR, Wu T, Bakhtian KD, Chew EY, Zhuang Z, Linehan WM, Oldfield EH.

J Neurosurg. 2014 May;120(5):1055-62. doi: 10.3171/2014.1.JNS131431. Epub 2014 Feb 28.

8.

Surgical management of endolymphatic sac tumors.

Friedman RA, Hoa M, Brackmann DE.

J Neurol Surg B Skull Base. 2013 Feb;74(1):12-9. doi: 10.1055/s-0032-1329622. Epub 2012 Nov 9.

9.

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition.

Binderup ML, Bisgaard ML, Harbud V, Møller HU, Gimsing S, Friis-Hansen L, Hansen Tv, Bagi P, Knigge U, Kosteljanetz M, Bøgeskov L, Thomsen C, Gerdes AM, Ousager LB, Sunde L; Danish vHL Coordination Group.

Dan Med J. 2013 Dec;60(12):B4763.

PMID:
24355456
10.

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

Coppin L, Grutzmacher C, Crépin M, Destailleur E, Giraud S, Cardot-Bauters C, Porchet N, Pigny P.

Eur J Hum Genet. 2014 Sep;22(9):1149-52. doi: 10.1038/ejhg.2013.279. Epub 2013 Dec 4.

11.

Effective delivery of large genes to the retina by dual AAV vectors.

Trapani I, Colella P, Sommella A, Iodice C, Cesi G, de Simone S, Marrocco E, Rossi S, Giunti M, Palfi A, Farrar GJ, Polishchuk R, Auricchio A.

EMBO Mol Med. 2014 Feb;6(2):194-211. doi: 10.1002/emmm.201302948. Epub 2013 Dec 15.

12.

Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations.

Kruizinga RC, Sluiter WJ, de Vries EG, Zonnenberg BA, Lips CJ, van der Horst-Schrivers AN, Walenkamp AM, Links TP.

Endocr Relat Cancer. 2013 Dec 20;21(1):63-71. doi: 10.1530/ERC-13-0308. Print 2014 Feb.

13.

von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening.

Binderup ML, Gimsing S, Kosteljanetz M, Thomsen C, Bisgaard ML.

Int J Audiol. 2013 Nov;52(11):771-5. doi: 10.3109/14992027.2013.824117. Epub 2013 Sep 5.

PMID:
24003980
14.

Clinical utility gene card for: von Hippel-Lindau (VHL).

Decker J, Neuhaus C, Macdonald F, Brauch H, Maher ER.

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.180. Epub 2013 Aug 28. No abstract available.

15.

Genetics of hereditary head and neck paragangliomas.

Boedeker CC, Hensen EF, Neumann HP, Maier W, van Nederveen FH, Suárez C, Kunst HP, Rodrigo JP, Takes RP, Pellitteri PK, Rinaldo A, Ferlito A.

Head Neck. 2014 Jun;36(6):907-16. doi: 10.1002/hed.23436. Epub 2013 Nov 30. Review.

PMID:
23913591
16.

Imaging detection of endolymphatic sac tumor-associated hydrops.

Butman JA, Nduom E, Kim HJ, Lonser RR.

J Neurosurg. 2013 Aug;119(2):406-11. doi: 10.3171/2013.2.JNS12608. Epub 2013 Mar 8.

PMID:
23472846
17.

Mosaicism in von Hippel-Lindau disease with severe renal manifestations.

Wu P, Zhang N, Wang X, Li T, Ning X, Bu D, Gong K.

Clin Genet. 2013 Dec;84(6):581-4. doi: 10.1111/cge.12092. Epub 2013 Feb 5.

PMID:
23384228
18.

Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome.

Volkin D, Yerram N, Ahmed F, Lankford D, Baccala A, Gupta GN, Hoang A, Nix J, Metwalli AR, Lang DM, Bratslavsky G, Linehan WM, Pinto PA.

J Pediatr Surg. 2012 Nov;47(11):2077-82. doi: 10.1016/j.jpedsurg.2012.07.003.

19.

The genetics of paragangliomas.

Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP.

Eur Ann Otorhinolaryngol Head Neck Dis. 2012 Dec;129(6):315-8. doi: 10.1016/j.anorl.2012.04.007. Epub 2012 Oct 15. Review.

20.

Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications.

Kim HJ, Hagan M, Butman JA, Baggenstos M, Brewer C, Zalewski C, Linehan WM, Lonser RR.

Laryngoscope. 2013 Feb;123(2):477-83. doi: 10.1002/lary.23646. Epub 2012 Oct 15.

PMID:
23070752

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