Majounie E - Search Results

1

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V. Upadhyaya M, et al. Among authors: majounie e. Hum Mutat. 2008 Jan;29(1):74-82. doi: 10.1002/humu.20601. Hum Mutat. 2008. PMID: 17960768

2

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN. Upadhyaya M, et al. Among authors: majounie e. Hum Mutat. 2004 Feb;23(2):134-146. doi: 10.1002/humu.10305. Hum Mutat. 2004. PMID: 14722917

3

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

Upadhyaya M, Spurlock G, Majounie E, Griffiths S, Forrester N, Baser M, Huson SM, Gareth Evans D, Ferner R. Upadhyaya M, et al. Among authors: majounie e. Hum Mutat. 2006 Jul;27(7):716. doi: 10.1002/humu.9429. Hum Mutat. 2006. PMID: 16786508

4

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Upadhyaya M, Majounie E, Thompson P, Han S, Consoli C, Krawczak M, Cordeiro I, Cooper DN. Upadhyaya M, et al. Among authors: majounie e. Hum Genet. 2003 Jan;112(1):12-7. doi: 10.1007/s00439-002-0840-1. Epub 2002 Oct 9. Hum Genet. 2003. PMID: 12483293

5

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG. Sharif S, et al. Among authors: majounie e. J Med Genet. 2011 Apr;48(4):256-60. doi: 10.1136/jmg.2010.081760. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278392

6

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E. De Raedt T, et al. Among authors: majounie e. Genes Chromosomes Cancer. 2006 Oct;45(10):893-904. doi: 10.1002/gcc.20353. Genes Chromosomes Cancer. 2006. PMID: 16830335

7

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MD, Misbahuddin A, Chinnery PF, Burn DJ, Clarke CE, Marion MH, Lewthwaite AJ, Nicholl DJ, Wood NW, Morrison KE, Williams-Gray CH, Evans JR, Sawcer SJ, Barker RA, Wickremaratchi MM, Ben-Shlomo Y, Williams NM, Morris HR. Kilarski LL, et al. Among authors: majounie e. Mov Disord. 2012 Oct;27(12):1522-9. doi: 10.1002/mds.25132. Epub 2012 Sep 6. Mov Disord. 2012. PMID: 22956510 Review.

8

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Thibodeau ML, Zhao EY, Reisle C, Ch'ng C, Wong HL, Shen Y, Jones MR, Lim HJ, Young S, Cremin C, Pleasance E, Zhang W, Holt R, Eirew P, Karasinska J, Kalloger SE, Taylor G, Majounie E, Bonakdar M, Zong Z, Bleile D, Chiu R, Birol I, Gelmon K, Lohrisch C, Mungall KL, Mungall AJ, Moore R, Ma YP, Fok A, Yip S, Karsan A, Huntsman D, Schaeffer DF, Laskin J, Marra MA, Renouf DJ, Jones SJM, Schrader KA. Thibodeau ML, et al. Among authors: majounie e. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003681. doi: 10.1101/mcs.a003681. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30833417 Free PMC article.

9

Analysis of copy number variation using quantitative interspecies competitive PCR.

Williams NM, Williams H, Majounie E, Norton N, Glaser B, Morris HR, Owen MJ, O'Donovan MC. Williams NM, et al. Among authors: majounie e. Nucleic Acids Res. 2008 Oct;36(17):e112. doi: 10.1093/nar/gkn495. Epub 2008 Aug 12. Nucleic Acids Res. 2008. PMID: 18697816 Free PMC article.

10

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: majounie e. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.

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