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Page 1
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Among authors: messiaen l. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
Independent NF1 mutations in two large families with spinal neurofibromatosis.
Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti EL, Koivunen J, Vandenbroucke I, Stephens K, Pöyhönen M. Messiaen L, et al. J Med Genet. 2003 Feb;40(2):122-6. doi: 10.1136/jmg.40.2.122. J Med Genet. 2003. PMID: 12566521 Free PMC article. No abstract available.
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP. Mantripragada KK, et al. Among authors: messiaen l. J Med Genet. 2006 Jan;43(1):28-38. doi: 10.1136/jmg.2005.033795. Epub 2005 Jun 8. J Med Genet. 2006. PMID: 15944227 Free PMC article.
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.
Maertens O, Prenen H, Debiec-Rychter M, Wozniak A, Sciot R, Pauwels P, De Wever I, Vermeesch JR, de Raedt T, De Paepe A, Speleman F, van Oosterom A, Messiaen L, Legius E. Maertens O, et al. Among authors: messiaen l. Hum Mol Genet. 2006 Mar 15;15(6):1015-23. doi: 10.1093/hmg/ddl016. Epub 2006 Feb 6. Hum Mol Genet. 2006. PMID: 16461335
Double inactivation of NF1 in tibial pseudarthrosis.
Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D'Astous JL, Santora SD, Viskochil DH. Stevenson DA, et al. Among authors: messiaen lm. Am J Hum Genet. 2006 Jul;79(1):143-8. doi: 10.1086/504441. Epub 2006 May 10. Am J Hum Genet. 2006. PMID: 16773574 Free PMC article.
185 results