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Results: 1 to 20 of 930

1.

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]
2.

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
3.

[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
4.

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 - in process]
5.

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]
6.

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]
7.

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
8.

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
9.

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
10.

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]
11.

Microarray‑based identification of nerve growth‑promoting genes in neurofibromatosis type I.

Liu Y, Kang D, Li C, Xu G, Tan Y, Wang J.

Mol Med Rep. 2014 Jan;9(1):192-6. doi: 10.3892/mmr.2013.1785. Epub 2013 Nov 8.

PMID:
24213587
[PubMed - indexed for MEDLINE]
12.

Ras-Mek-Erk signaling regulates Nf1 heterozygous neointima formation.

Stansfield BK, Bessler WK, Mali R, Mund JA, Downing BD, Kapur R, Ingram DA Jr.

Am J Pathol. 2014 Jan;184(1):79-85. doi: 10.1016/j.ajpath.2013.09.022. Epub 2013 Nov 7.

PMID:
24211110
[PubMed - indexed for MEDLINE]
13.

Neurofibromatosis type 1 and autism spectrum disorder.

Garg S, Green J, Leadbitter K, Emsley R, Lehtonen A, Evans DG, Huson SM.

Pediatrics. 2013 Dec;132(6):e1642-8. doi: 10.1542/peds.2013-1868. Epub 2013 Nov 4.

PMID:
24190681
[PubMed - indexed for MEDLINE]
14.

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2.

PMID:
24186807
[PubMed - indexed for MEDLINE]
15.

Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1.

Mainberger F, Jung NH, Zenker M, Wahlländer U, Freudenberg L, Langer S, Berweck S, Winkler T, Straube A, Heinen F, Granström S, Mautner VF, Lidzba K, Mall V.

BMC Neurol. 2013 Oct 2;13:131. doi: 10.1186/1471-2377-13-131.

PMID:
24088225
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Injury signals cooperate with Nf1 loss to relieve the tumor-suppressive environment of adult peripheral nerve.

Ribeiro S, Napoli I, White IJ, Parrinello S, Flanagan AM, Suter U, Parada LF, Lloyd AC.

Cell Rep. 2013 Oct 17;5(1):126-36. doi: 10.1016/j.celrep.2013.08.033. Epub 2013 Sep 26.

PMID:
24075988
[PubMed - indexed for MEDLINE]
Free Article
17.

Visual acuity of children treated with chemotherapy for optic pathway gliomas.

Kalin-Hajdu E, Décarie JC, Marzouki M, Carret AS, Ospina LH.

Pediatr Blood Cancer. 2014 Feb;61(2):223-7. doi: 10.1002/pbc.24726. Epub 2013 Aug 19.

PMID:
23956233
[PubMed - indexed for MEDLINE]
18.

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

Hamby SE, Reviriego P, Cooper DN, Upadhyaya M, Chuzhanova N.

Hum Genomics. 2013 Aug 15;7:18. doi: 10.1186/1479-7364-7-18.

PMID:
23947441
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Advances in the treatment of neurofibromatosis-associated tumours.

Lin AL, Gutmann DH.

Nat Rev Clin Oncol. 2013 Nov;10(11):616-24. doi: 10.1038/nrclinonc.2013.144. Epub 2013 Aug 13. Review.

PMID:
23939548
[PubMed - indexed for MEDLINE]
20.

Neurofibromatosis type 1 (NF1): diagnosis and management.

Ferner RE, Gutmann DH.

Handb Clin Neurol. 2013;115:939-55. doi: 10.1016/B978-0-444-52902-2.00053-9. Review.

PMID:
23931823
[PubMed - indexed for MEDLINE]

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