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Results: 1 to 20 of 943

1.

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Abramowicz A, Gos M.

Dev Period Med. 2014 Jul-Sep;18(3):297-306. Review.

PMID:
25182393
[PubMed - indexed for MEDLINE]
Free Article
2.

[PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex].

Luscan A, Vidaud D, Ortonne N, Wolkenstein P, Vidaud M, Pasmant E.

Med Sci (Paris). 2014 Aug-Sep;30(8-9):733-5. doi: 10.1051/medsci/20143008006. Epub 2014 Sep 1. French. No abstract available.

PMID:
25174745
[PubMed - indexed for MEDLINE]
3.

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

Laczmańska I, Szczepaniak M, Jakubiak A, Stembalska A.

Adv Clin Exp Med. 2014 Jul-Aug;23(4):517-21.

PMID:
25166435
[PubMed - indexed for MEDLINE]
Free Article
4.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laurendeau I, Fouveaut C, Leroy C, Montadert A, Wolkenstein P, Vidaud M, Vidaud D.

Eur J Hum Genet. 2014 Jul 30. doi: 10.1038/ejhg.2014.145. [Epub ahead of print]

PMID:
25074460
[PubMed - as supplied by publisher]
5.

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1.

de la Croix Ndong J, Makowski AJ, Uppuganti S, Vignaux G, Ono K, Perrien DS, Joubert S, Baglio SR, Granchi D, Stevenson DA, Rios JJ, Nyman JS, Elefteriou F.

Nat Med. 2014 Aug;20(8):904-10. doi: 10.1038/nm.3583. Epub 2014 Jul 6.

PMID:
24997609
[PubMed - indexed for MEDLINE]
6.

Eliminating barriers to personalized medicine: learning from neurofibromatosis type 1.

Gutmann DH.

Neurology. 2014 Jul 29;83(5):463-71. doi: 10.1212/WNL.0000000000000652. Epub 2014 Jun 27. Review.

PMID:
24975854
[PubMed - indexed for MEDLINE]
7.

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, Ragione FD, Cirillo M, Mirone G, Perrotta S.

BMC Med Genet. 2014 Apr 26;15:44. doi: 10.1186/1471-2350-15-44.

PMID:
24767283
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Tumors perturbing extracellular matrix biosynthesis. The case of von Recklinghausen's disease.

Robert L.

Pathol Biol (Paris). 2014 Apr;62(2):118-22. doi: 10.1016/j.patbio.2014.02.010. Epub 2014 Mar 18. Review.

PMID:
24650525
[PubMed - indexed for MEDLINE]
9.

Education and imaging. Gastrointestinal: neurofibromatosis type 1, duodenal somatostatinoma and gastrointestinal stromal tumors; a triad worth remembering.

Njei B, Sanchez H.

J Gastroenterol Hepatol. 2014 Apr;29(4):663. doi: 10.1111/jgh.12531. No abstract available.

PMID:
24646427
[PubMed - indexed for MEDLINE]
10.

Autopsy case of concurrent Huntington's disease and neurofibromatosis type 1.

Kawakami I, Katsuse O, Aoki N, Togo T, Suzuki K, Isojima D, Kondo D, Iseki E, Kosaka K, Akiyama H, Hirayasu Y.

Psychogeriatrics. 2014 Mar;14(1):81-6. doi: 10.1111/psyg.12040. Epub 2014 Feb 16.

PMID:
24528652
[PubMed - indexed for MEDLINE]
11.

[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].

Bikowska-Opalach B, Jackowska T.

Med Wieku Rozwoj. 2013 Oct-Dec;17(4):334-40. Review. Polish.

PMID:
24519776
[PubMed - indexed for MEDLINE]
Free Article
12.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J, Bretscher A, Cichowski K, Clapp DW, Dombi E, Evans GD, Ferner R, Fernandez-Valle C, Fisher MJ, Giovannini M, Gutmann DH, Hanemann CO, Hennigan R, Huson S, Ingram D, Kissil J, Korf BR, Legius E, Packer RJ, McClatchey AI, McCormick F, North K, Pehrsson M, Plotkin SR, Ramesh V, Ratner N, Schirmer S, Sherman L, Schorry E, Stevenson D, Stewart DR, Ullrich N, Bakker AC, Morrison H.

Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17.

PMID:
24443315
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1.

Diggs-Andrews KA, Brown JA, Gianino SM, Rubin JB, Wozniak DF, Gutmann DH.

Ann Neurol. 2014 Feb;75(2):309-16. doi: 10.1002/ana.24093. Epub 2014 Feb 6.

PMID:
24375753
[PubMed - indexed for MEDLINE]
14.

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

Ercolino T, Lai R, Giachè V, Melchionda S, Carella M, Delitala A, Mannelli M, Fanciulli G.

Gene. 2014 Feb 25;536(2):332-5. doi: 10.1016/j.gene.2013.12.003. Epub 2013 Dec 21.

PMID:
24361808
[PubMed - indexed for MEDLINE]
15.

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML.

Am J Med Genet A. 2014 Mar;164A(3):579-87. doi: 10.1002/ajmg.a.36313. Epub 2013 Dec 19.

PMID:
24357598
[PubMed - indexed for MEDLINE]
16.

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H, Legius E.

Keio J Med. 2013;62(4):107-12. Epub 2013 Dec 10. Review.

PMID:
24334617
[PubMed - indexed for MEDLINE]
Free Article
17.

Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.

Schaefer IM, Ströbel P, Thiha A, Sohns JM, Mühlfeld C, Küffer S, Felmerer G, Stepniewski A, Pauli S, Agaimy A.

Int J Clin Exp Pathol. 2013 Nov 15;6(12):3003-8. eCollection 2013.

PMID:
24294391
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.

Hoogstraat M, de Pagter MS, Cirkel GA, van Roosmalen MJ, Harkins TT, Duran K, Kreeftmeijer J, Renkens I, Witteveen PO, Lee CC, Nijman IJ, Guy T, van 't Slot R, Jonges TN, Lolkema MP, Koudijs MJ, Zweemer RP, Voest EE, Cuppen E, Kloosterman WP.

Genome Res. 2014 Feb;24(2):200-11. doi: 10.1101/gr.161026.113. Epub 2013 Nov 12.

PMID:
24221193
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.

Luscan A, Shackleford G, Masliah-Planchon J, Laurendeau I, Ortonne N, Varin J, Lallemand F, Leroy K, Dumaine V, Hivelin M, Borderie D, De Raedt T, Valeyrie-Allanore L, Larousserie F, Terris B, Lantieri L, Vidaud M, Vidaud D, Wolkenstein P, Parfait B, Bièche I, Massaad C, Pasmant E.

Clin Cancer Res. 2014 Jan 15;20(2):358-71. doi: 10.1158/1078-0432.CCR-13-0780. Epub 2013 Nov 11.

PMID:
24218515
[PubMed - indexed for MEDLINE]
20.

Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation.

Liang JT, Huo LR, Bao YH, Wang ZY, Ling F.

Neurosci Bull. 2013 Dec;29(6):708-14. doi: 10.1007/s12264-013-1388-x. Epub 2013 Nov 11.

PMID:
24218100
[PubMed - indexed for MEDLINE]

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