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3. DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J. JAMA; 1993 Nov 17; 270(19):2316-20. PubMed ID: 8230593 [Abstract] [Full Text] [Related]
5. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM. Hum Mol Genet; 1994 Jun 17; 3(6):885-91. PubMed ID: 7951231 [Abstract] [Full Text] [Related]
7. Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis. Jacoby LB, MacCollin M, Parry DM, Kluwe L, Lynch J, Jones D, Gusella JF. Neurogenetics; 1999 Apr 17; 2(2):101-8. PubMed ID: 10369886 [Abstract] [Full Text] [Related]
8. Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer A, van Drunen E, Bootsma D, Koper JW, Avezaat CJ, Kley N. Am J Hum Genet; 1994 Jun 17; 54(6):1022-9. PubMed ID: 7911002 [Abstract] [Full Text] [Related]
9. Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. Stemmer-Rachamimov AO, Ino Y, Lim ZY, Jacoby LB, MacCollin M, Gusella JF, Ramesh V, Louis DN. J Neuropathol Exp Neurol; 1998 Dec 17; 57(12):1164-7. PubMed ID: 9862639 [Abstract] [Full Text] [Related]
10. The neurofibromatosis type 2 gene is inactivated in schwannomas. Twist EC, Ruttledge MH, Rousseau M, Sanson M, Papi L, Merel P, Delattre O, Thomas G, Rouleau GA. Hum Mol Genet; 1994 Jan 17; 3(1):147-51. PubMed ID: 8162016 [Abstract] [Full Text] [Related]
11. Analysis of mutations in the SCH gene in schwannomas. Bijlsma EK, Merel P, Bosch DA, Westerveld A, Delattre O, Thomas G, Hulsebos TJ. Genes Chromosomes Cancer; 1994 Sep 17; 11(1):7-14. PubMed ID: 7529050 [Abstract] [Full Text] [Related]
12. Impairment of cell adhesion by expression of the mutant neurofibromatosis type 2 (NF2) genes which lack exons in the ERM-homology domain. Koga H, Araki N, Takeshima H, Nishi T, Hirota T, Kimura Y, Nakao M, Saya H. Oncogene; 1998 Aug 20; 17(7):801-10. PubMed ID: 9779996 [Abstract] [Full Text] [Related]
13. A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2. De Klein A, Riegman PH, Bijlsma EK, Heldoorn A, Muijtjens M, den Bakker MA, Avezaat CJ, Zwarthoff EC. Hum Mol Genet; 1998 Mar 20; 7(3):393-8. PubMed ID: 9466995 [Abstract] [Full Text] [Related]
14. A point mutation associated with a severe phenotype of neurofibromatosis 2. MacCollin M, Braverman N, Viskochil D, Ruttledge M, Davis K, Ojemann R, Gusella J, Parry DM. Ann Neurol; 1996 Sep 20; 40(3):440-5. PubMed ID: 8797533 [Abstract] [Full Text] [Related]
15. Highly polymorphic dinucleotide repeat at the NF2 gene. Bourn D, Strachan T. Hum Genet; 1995 Jun 20; 95(6):712. PubMed ID: 7789960 [Abstract] [Full Text] [Related]
16. NF2 gene in neurofibromatosis type 2 patients. Zucman-Rossi J, Legoix P, Der Sarkissian H, Cheret G, Sor F, Bernardi A, Cazes L, Giraud S, Ollagnon E, Lenoir G, Thomas G. Hum Mol Genet; 1998 Dec 20; 7(13):2095-101. PubMed ID: 9817927 [Abstract] [Full Text] [Related]
17. Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Bourn D, Carter SA, Mason S, Gareth D, Evans R, Strachan T. Hum Mol Genet; 1994 May 20; 3(5):813-6. PubMed ID: 8081368 [Abstract] [Full Text] [Related]
18. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJ, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR. Nat Genet; 1994 Feb 20; 6(2):185-92. PubMed ID: 8162073 [Abstract] [Full Text] [Related]
19. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Kluwe L, Mautner VF. Hum Genet; 1996 Feb 20; 97(2):224-7. PubMed ID: 8566958 [Abstract] [Full Text] [Related]