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Items: 1 to 20 of 22

1.

Evidence of neurofibromatosis type 1 in a multi-morbid Inca child mummy: A paleoradiological investigation using computed tomography.

Panzer S, Wittig H, Zesch S, Rosendahl W, Blache S, Müller-Gerbl M, Hotz G.

PLoS One. 2017 Apr 12;12(4):e0175000. doi: 10.1371/journal.pone.0175000. eCollection 2017.

2.

Occult Internal Mammary Artery Neurofibromatosis: A Case for Caution in Coronary Revascularization.

Boukovalas S, Boukovala M, Roughneen PT, Qiu S, Al-Dossari GA.

Ann Thorac Surg. 2017 Apr;103(4):e309-e311. doi: 10.1016/j.athoracsur.2016.09.045.

PMID:
28359484
3.

Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Glioma
.

Sani I, Albanese A.

Horm Res Paediatr. 2017;87(3):179-188. doi: 10.1159/000458525. Epub 2017 Mar 27.

PMID:
28346917
4.

A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1.

Mahdi J, Shah AC, Sato A, Morris SM, McKinstry RC, Listernick R, Packer RJ, Fisher MJ, Gutmann DH.

Neurology. 2017 Apr 18;88(16):1584-1589. doi: 10.1212/WNL.0000000000003881. Epub 2017 Mar 22.

PMID:
28330960
5.

Ultrasound assessment of peripheral nerve pathology in neurofibromatosis type 1 and 2.

Winter N, Rattay TW, Axer H, Schäffer E, Décard BF, Gugel I, Schuhmann M, Grimm A.

Clin Neurophysiol. 2017 May;128(5):702-706. doi: 10.1016/j.clinph.2017.02.005. Epub 2017 Feb 20.

PMID:
28315612
6.

Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire.

Ferner RE, Thomas M, Mercer G, Williams V, Leschziner GD, Afridi SK, Golding JF.

Health Qual Life Outcomes. 2017 Feb 14;15(1):34. doi: 10.1186/s12955-017-0607-y.

7.

A novel frameshift mutation of the <i>NF1</i> gene in a Chinese pedigree with neurofibromatosis type 1.

Lin X, Chen H, Zhu W, Lian S.

Indian J Dermatol Venereol Leprol. 2017 Mar-Apr;83(2):231-233. doi: 10.4103/0378-6323.198457. No abstract available.

8.

Face Transplant in an Advanced Neurofibromatosis Type 1 Patient.

Krakowczyk Ł, Maciejewski A, Szymczyk C, Oleś K, Półtorak S.

Ann Transplant. 2017 Jan 31;22:53-57.

9.

Primary Cutaneous Follicular Helper T-cell Lymphoma in a Patient With Neurofibromatosis Type 1: Case Report and Review of the Literature.

Shamsuyarova A, Kamil Z, Delabie J, Al-Faraidy N, Ghazarian D.

Am J Dermatopathol. 2017 Feb;39(2):134-139. doi: 10.1097/DAD.0000000000000697. Review.

PMID:
28134730
10.

Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1.

Poyrazoğlu HG, Baş VN, Arslan A, Bastug F, Canpolat M, Per H, Gümüs H, Kumandas S.

J Pediatr Endocrinol Metab. 2017 Feb 1;30(2):175-180. doi: 10.1515/jpem-2016-0092.

PMID:
28125404
11.

Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.

Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, Whitcomb P, Martin S, Aschbacher-Smith LE, Rizvi TA, Wu J, Ershler R, Wolters P, Therrien J, Glod J, Belasco JB, Schorry E, Brofferio A, Starosta AJ, Gillespie A, Doyle AL, Ratner N, Widemann BC.

N Engl J Med. 2016 Dec 29;375(26):2550-2560. doi: 10.1056/NEJMoa1605943.

PMID:
28029918
12.

The role of the immune system in neurofibromatosis type 1-associated nervous system tumors.

Karmakar S, Reilly KM.

CNS Oncol. 2017 Jan;6(1):45-60. doi: 10.2217/cns-2016-0024. Epub 2016 Dec 21. Review.

PMID:
28001089
13.

Neurofibromatosis type 1 and lichen sclerosus: an uncommon association.

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2017 Feb;152(1):83-84. doi: 10.23736/S0392-0488.16.05175-0. No abstract available.

PMID:
27978612
14.

A case of eruptive neurofibroma in a woman with neurofibromatosis during treatment with methotrexate.

Onnis G, Lissia A, Montesu MA, Erre G, Satta R.

G Ital Dermatol Venereol. 2017 Feb;152(1):73-75. doi: 10.23736/S0392-0488.16.05031-8. No abstract available.

PMID:
27978608
15.

Hippocampal sclerosis and associated focal cortical dysplasia-related epilepsy in neurofibromatosis type I.

Gales J, Prayson RA.

J Clin Neurosci. 2017 Mar;37:15-19. doi: 10.1016/j.jocn.2016.10.048. Epub 2016 Dec 9. Review.

PMID:
27939253
16.

Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors.

Uusitalo E, Kallionpää RA, Kurki S, Rantanen M, Pitkäniemi J, Kronqvist P, Härkönen P, Huovinen R, Carpen O, Pöyhönen M, Peltonen S, Peltonen J.

Br J Cancer. 2017 Jan 17;116(2):211-217. doi: 10.1038/bjc.2016.403. Epub 2016 Dec 8.

17.

A combined one-stage surgical approach of orbital tumor debulking, lid reconstruction, and ptosis repair in children with orbitotemporal neurofibromatosis.

Keren S, Dotan G, Ben-Cnaan R, Leibovitch L, Leibovitch I.

J Plast Reconstr Aesthet Surg. 2017 Mar;70(3):336-340. doi: 10.1016/j.bjps.2016.10.015. Epub 2016 Nov 11.

PMID:
27913089
18.

Pheochromocytoma in neurofibromatosis type 1 during pregnancy.

Remón-Ruiz P, Aliaga-Verdugo A, Guerrero-Vázquez R.

Gynecol Endocrinol. 2017 Feb;33(2):93-95. doi: 10.1080/09513590.2016.1254181. Epub 2016 Dec 2.

PMID:
27908211
19.

Clinical genomic profiling identifies TYK2 mutation and overexpression in patients with neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Hirbe AC, Kaushal M, Sharma MK, Dahiya S, Pekmezci M, Perry A, Gutmann DH.

Cancer. 2017 Apr 1;123(7):1194-1201. doi: 10.1002/cncr.30455. Epub 2016 Nov 22.

PMID:
27875628
20.

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V.

Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9.

PMID:
27838393

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