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139 results

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Page 1
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.
Stevenson DA, Birch PH, Friedman JM, Viskochil DH, Balestrazzi P, Boni S, Buske A, Korf BR, Niimura M, Pivnick EK, Schorry EK, Short MP, Tenconi R, Tonsgard JH, Carey JC. Stevenson DA, et al. Among authors: niimura m. Am J Med Genet. 1999 Jun 11;84(5):413-9. doi: 10.1002/(sici)1096-8628(19990611)84:5<413::aid-ajmg5>3.0.co;2-1. Am J Med Genet. 1999. PMID: 10360395
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.
Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM. Lin AE, et al. Among authors: niimura m. Am J Med Genet. 2000 Nov 13;95(2):108-17. doi: 10.1002/1096-8628(20001113)95:2<108::aid-ajmg4>3.0.co;2-0. Am J Med Genet. 2000. PMID: 11078559
Diagnostic criteria for schwannomatosis.
MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES. MacCollin M, et al. Among authors: niimura m. Neurology. 2005 Jun 14;64(11):1838-45. doi: 10.1212/01.WNL.0000163982.78900.AD. Neurology. 2005. PMID: 15955931 Review.
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.
Bruder CE, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlén S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. Bruder CE, et al. Among authors: niimura m. Hum Mol Genet. 2001 Feb 1;10(3):271-82. doi: 10.1093/hmg/10.3.271. Hum Mol Genet. 2001. PMID: 11159946 Free article.
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K. Maruoka R, et al. Among authors: niimura m. Genet Test Mol Biomarkers. 2014 Nov;18(11):722-35. doi: 10.1089/gtmb.2014.0109. Epub 2014 Oct 17. Genet Test Mol Biomarkers. 2014. PMID: 25325900 Free PMC article. Clinical Trial.
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
Buckley PG, Mantripragada KK, Díaz de Ståhl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, Grigelionis G, Menzel U, Dumanski JP. Buckley PG, et al. Among authors: niimura m. Hum Mutat. 2005 Dec;26(6):540-9. doi: 10.1002/humu.20255. Hum Mutat. 2005. PMID: 16287142
Neurofibromatosis 2 and neurilemmomatosis gene are identical.
Honda M, Arai E, Sawada S, Ohta A, Niimura M. Honda M, et al. Among authors: niimura m. J Invest Dermatol. 1995 Jan;104(1):74-7. doi: 10.1111/1523-1747.ep12613537. J Invest Dermatol. 1995. PMID: 7798645 Free article.
139 results