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Results: 1 to 20 of 103

Similar articles for PubMed (Select 23656349)

1.

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM.

Clin Genet. 2014 Apr;85(4):318-27. doi: 10.1111/cge.12187. Epub 2013 Jun 25.

PMID:
23656349
2.

Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: Strategies to improve care.

Crawford HA, Barton B, Wilson MJ, Berman Y, McKelvey-Martin V, Morrison PJ, North KN.

Clin Genet. 2015 Jun 17. doi: 10.1111/cge.12627. [Epub ahead of print]

PMID:
26081173
3.

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Zhang J, Tong H, Fu X, Zhang Y, Liu J, Cheng R, Liang J, Peng J, Sun Z, Liu H, Zhang F, Lu W, Li M, Yao Z.

Sci Rep. 2015 Jun 9;5:11291. doi: 10.1038/srep11291.

4.

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.

5.

A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.

Cai SP, Fan N, Chen J, Xia ZL, Wang Y, Zhou XM, Yin Y, Wen TL, Xia QJ, Liu XY, Wang HY.

Genet Mol Res. 2014 Jul 24;13(3):5395-404. doi: 10.4238/2014.July.24.19.

6.

NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.

Ponti G, Martorana D, Pellacani G, Ruini C, Loschi P, Baccarani A, De Santis G, Pollio A, Neri TM, Mandel VD, Maiorana A, Maccio L, Maccaferri M, Tomasi A.

Anticancer Res. 2014 Jun;34(6):3021-30.

PMID:
24922668
7.

Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene.

Balla B, Árvai K, Horváth P, Tobiás B, Takács I, Nagy Z, Dank M, Fekete G, Kósa JP, Lakatos P.

J Mol Neurosci. 2014 Jun;53(2):204-10. doi: 10.1007/s12031-014-0286-7. Epub 2014 Mar 28.

PMID:
24676943
8.

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

Ben-Salem S, Al-Shamsi AM, Ali BR, Al-Gazali L.

Childs Nerv Syst. 2014 Jul;30(7):1183-9. doi: 10.1007/s00381-013-2352-9. Epub 2014 Jan 11.

PMID:
24413922
9.

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
10.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L.

Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14.

PMID:
24232412
11.

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.

Nicita F, Torrente I, Spalice A, Bottillo I, Papetti L, Pinna V, Ursitti F, Ruggieri M.

J Clin Neurosci. 2014 Feb;21(2):328-30. doi: 10.1016/j.jocn.2013.01.026. Epub 2013 Aug 15.

PMID:
23954459
12.

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P.

Hum Mutat. 2013 Nov;34(11):1510-8. doi: 10.1002/humu.22392. Epub 2013 Aug 26.

PMID:
23913538
13.

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma.

Bolcekova A, Nemethova M, Zatkova A, Hlinkova K, Pozgayova S, Hlavata A, Kadasi L, Durovcikova D, Gerinec A, Husakova K, Pavlovicova Z, Holobrada M, Kovacs L, Ilencikova D.

Neoplasma. 2013;60(6):655-65. doi: 10.4149/neo_2013_084.

PMID:
23906300
14.

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG.

J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28.

15.

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Nemethova M, Bolcekova A, Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A.

Ann Hum Genet. 2013 Sep;77(5):364-79. doi: 10.1111/ahg.12026. Epub 2013 Jun 12.

PMID:
23758643
16.

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM.

Pediatr Neurol. 2013 Jun;48(6):447-53. doi: 10.1016/j.pediatrneurol.2013.02.004.

PMID:
23668869
17.

Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.

Trevisson E, Forzan M, Salviati L, Clementi M.

Clin Genet. 2014 Apr;85(4):386-9. doi: 10.1111/cge.12177. Epub 2013 May 27.

PMID:
23621909
18.

Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.

Boudry-Labis E, Roche-Lestienne C, Nibourel O, Boissel N, Terre C, Perot C, Eclache V, Gachard N, Tigaud I, Plessis G, Cuccuini W, Geffroy S, Villenet C, Figeac M, Leprêtre F, Renneville A, Cheok M, Soulier J, Dombret H, Preudhomme C; French ALFA group.

Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5.

PMID:
23460398
19.

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Muram TM, Stevenson DA, Watts-Justice S, Viskochil DH, Carey JC, Mao R, Jackson B.

Am J Med Genet A. 2013 Mar;161A(3):467-72. doi: 10.1002/ajmg.a.35718. Epub 2013 Feb 7.

PMID:
23401230
20.

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

Parisi P, Persechino S, Paolino MC, Nicita F, Torrente I, Bozzao A, Villa MP.

Ital J Pediatr. 2013 Feb 11;39:10. doi: 10.1186/1824-7288-39-10.

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