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Items: 1 to 20 of 138

1.

An Update on the Ophthalmologic Features in the Phakomatoses.

Abdolrahimzadeh S, Plateroti AM, Recupero SM, Lambiase A.

J Ophthalmol. 2016;2016:3043026. doi: 10.1155/2016/3043026. Epub 2016 Jul 17. Review.

2.

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas.

Helfferich J, Nijmeijer R, Brouwer OF, Boon M, Fock A, Hoving EW, Meijer L, den Dunnen WF, de Bont ES.

Crit Rev Oncol Hematol. 2016 Aug;104:30-41. doi: 10.1016/j.critrevonc.2016.05.008. Epub 2016 May 21. Review.

3.

Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography.

Abdolrahimzadeh B, Piraino DC, Albanese G, Cruciani F, Rahimi S.

Clin Ophthalmol. 2016 May 13;10:851-60. doi: 10.2147/OPTH.S102830. eCollection 2016. Review.

4.

Hearing Restoration in Neurofibromatosis Type II Patients.

Lee JM, Chang JW, Choi JY, Chang WS, Moon IS.

Yonsei Med J. 2016 Jul;57(4):817-23. doi: 10.3349/ymj.2016.57.4.817. Review.

5.

GEP- NETS UPDATE: Genetics of neuroendocrine tumors.

Crona J, Skogseid B.

Eur J Endocrinol. 2016 Jun;174(6):R275-90. doi: 10.1530/EJE-15-0972. Review.

6.

Neuroimaging in pediatric phakomatoses. An educational review.

Raus I, Coroiu RE, Capusan CS.

Clujul Med. 2016;89(1):56-64. doi: 10.15386/cjmed-417. Epub 2016 Jan 15. Review.

7.

Malignant Peripheral Nerve Sheath Tumor of the Liver.

Kakizaki S, Horiguchi N, Otsuka T, Takizawa D, Yamazaki Y, Sato K, Ohno Y, Kusano M, Yamada M.

Intern Med. 2016;55(3):245-9. doi: 10.2169/internalmedicine.55.5456. Epub 2016 Feb 1. Review.

8.

[Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis].

Abramowicz A, Gos M.

Postepy Hig Med Dosw (Online). 2015 Dec 9;69:1331-48. Review. Polish.

9.

Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature.

Kocova M, Kochova E, Sukarova-Angelovska E.

BMC Endocr Disord. 2015 Dec 15;15:82. doi: 10.1186/s12902-015-0076-4. Review.

10.

[Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)].

Gómez M, Batista O.

Rev Med Chil. 2015 Oct;143(10):1320-30. doi: 10.4067/S0034-98872015001000011. Review. Spanish.

11.

Current status of familial gastrointestinal polyposis syndromes.

Jung I, Gurzu S, Turdean GS.

World J Gastrointest Oncol. 2015 Nov 15;7(11):347-55. doi: 10.4251/wjgo.v7.i11.347. Review.

12.

Familial syndromes associated with neuroendocrine tumours.

Gut P, Komarowska H, Czarnywojtek A, Waligórska-Stachura J, Bączyk M, Ziemnicka K, Fischbach J, Wrotkowska E, Ruchała M.

Contemp Oncol (Pozn). 2015;19(3):176-83. doi: 10.5114/wo.2015.52710. Epub 2015 Jul 8. Review.

13.

Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism.

Huber KM, Klann E, Costa-Mattioli M, Zukin RS.

J Neurosci. 2015 Oct 14;35(41):13836-42. doi: 10.1523/JNEUROSCI.2656-15.2015. Review.

14.

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.

Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM.

Biomed Res Int. 2015;2015:781294. doi: 10.1155/2015/781294. Epub 2015 Sep 16. Review.

15.

[Congenital glaucoma and neurofibromatosis type 1].

Tzili N, El Orch H, Bencherifa F, Chefchaouni MC, Abdallah el H, Berraho A.

Pan Afr Med J. 2015 May 25;21:56. doi: 10.11604/pamj.2015.21.56.6794. eCollection 2015. Review. French. No abstract available.

16.

Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches.

Costa MH, Ortiga-Carvalho TM, Violante AD, Vaisman M.

Front Endocrinol (Lausanne). 2015 Aug 17;6:126. doi: 10.3389/fendo.2015.00126. eCollection 2015. Review.

17.

Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors.

Salamon J, Mautner VF, Adam G, Derlin T.

Rofo. 2015 Dec;187(12):1084-92. doi: 10.1055/s-0035-1553505. Epub 2015 Sep 2. Review.

18.

15 YEARS OF PARAGANGLIOMA: Pheochromocytoma, paraganglioma and genetic syndromes: a historical perspective.

Else T.

Endocr Relat Cancer. 2015 Aug;22(4):T147-59. doi: 10.1530/ERC-15-0221. Review.

19.

Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review.

Takei H, Rouah E, Bhattacharjee MB.

Int J Clin Exp Pathol. 2015 Jun 1;8(6):7570-4. eCollection 2015. Review.

20.

Moyamoya Syndrome: A Window of Moyamoya Disease.

Phi JH, Wang KC, Lee JY, Kim SK.

J Korean Neurosurg Soc. 2015 Jun;57(6):408-14. doi: 10.3340/jkns.2015.57.6.408. Epub 2015 Jun 30. Review.

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