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Journal Abstract Search

334 related items for PubMed ID: 10338003

  • 1. Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?
    Bruder CE, Ichimura K, Blennow E, Ikeuchi T, Yamaguchi T, Yuasa Y, Collins VP, Dumanski JP.
    Genes Chromosomes Cancer; 1999 Jun; 25(2):184-90. PubMed ID: 10338003
    [Abstract] [Full Text] [Related]

  • 2. High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH.
    Mantripragada KK, Buckley PG, Benetkiewicz M, De Bustos C, Hirvelä C, Jarbo C, Bruder CE, Wensman H, Mathiesen T, Nyberg G, Papi L, Collins VP, Ichimura K, Evans G, Dumanski JP.
    Int J Oncol; 2003 Mar; 22(3):615-22. PubMed ID: 12579316
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetic analysis of chromosome arm 17p and chromosome arm 22q DNA sequences in sporadic pediatric ependymomas.
    von Haken MS, White EC, Daneshvar-Shyesther L, Sih S, Choi E, Kalra R, Cogen PH.
    Genes Chromosomes Cancer; 1996 Sep; 17(1):37-44. PubMed ID: 8889505
    [Abstract] [Full Text] [Related]

  • 4. 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.
    Hum Mutat; 2005 Dec; 26(6):540-9. PubMed ID: 16287142
    [Abstract] [Full Text] [Related]

  • 5. Molecular characterization of germline NF2 gene rearrangements.
    Legoix P, Sarkissian HD, Cazes L, Giraud S, Sor F, Rouleau GA, Lenoir G, Thomas G, Zucman-Rossi J.
    Genomics; 2000 Apr 01; 65(1):62-6. PubMed ID: 10777666
    [Abstract] [Full Text] [Related]

  • 6. 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.
    Hum Mol Genet; 2001 Feb 01; 10(3):271-82. PubMed ID: 11159946
    [Abstract] [Full Text] [Related]

  • 7. Phenotypic variability associated with 14 splice-site mutations in the NF2 gene.
    Kluwe L, MacCollin M, Tatagiba M, Thomas S, Hazim W, Haase W, Mautner VF.
    Am J Med Genet; 1998 May 18; 77(3):228-33. PubMed ID: 9605590
    [Abstract] [Full Text] [Related]

  • 8. A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene.
    Bruder CE, Ichimura K, Tingby O, Hirakawa K, Komatsuzaki A, Tamura A, Yuasa Y, Collins VP, Dumanski JP.
    Hum Genet; 1999 May 18; 104(5):418-24. PubMed ID: 10394935
    [Abstract] [Full Text] [Related]

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  • 10. Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.
    Zirn B, Arning L, Bartels I, Shoukier M, Hoffjan S, Neubauer B, Hahn A.
    Clin Genet; 2012 Jan 18; 81(1):82-7. PubMed ID: 21175598
    [Abstract] [Full Text] [Related]

  • 11. A non-NF2 case of schwannomas of vestibular and trigeminal nerves with different genetic alterations of NF2 gene: case report.
    Kambe A, Kamitani H, Watanabe T, Oka A, Inagaki H, Ishii T, Ueki K.
    Surg Neurol; 2005 Jan 18; 63(1):62-4; discussion 64-5. PubMed ID: 15639530
    [Abstract] [Full Text] [Related]

  • 12. Neurofibromatosis type 2: genetic and clinical features.
    Evans DG.
    Ear Nose Throat J; 1999 Feb 18; 78(2):97-100. PubMed ID: 10089694
    [Abstract] [Full Text] [Related]

  • 13. Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.
    Abo-Dalo B, Kutsche K, Mautner V, Kluwe L.
    Genes Chromosomes Cancer; 2010 Feb 18; 49(2):171-5. PubMed ID: 19924781
    [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 18; 40(3):440-5. PubMed ID: 8797533
    [Abstract] [Full Text] [Related]

  • 15. Combined molecular genetic studies of chromosome 22q and the neurofibromatosis type 2 gene in central nervous system tumors.
    Ng HK, Lau KM, Tse JY, Lo KW, Wong JH, Poon WS, Huang DP.
    Neurosurgery; 1995 Oct 18; 37(4):764-73. PubMed ID: 8559307
    [Abstract] [Full Text] [Related]

  • 16. Further genotype--phenotype correlations in neurofibromatosis 2.
    Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG.
    Clin Genet; 2010 Feb 18; 77(2):163-70. PubMed ID: 19968670
    [Abstract] [Full Text] [Related]

  • 17. Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2.
    Arai E, Ikeuchi T, Karasawa S, Tamura A, Yamamoto K, Kida M, Ichimura K, Yuasa Y, Tonomura A.
    Am J Med Genet; 1992 Sep 15; 44(2):163-7. PubMed ID: 1456285
    [Abstract] [Full Text] [Related]

  • 18. Phenotypic variability in monozygotic twins with neurofibromatosis 2.
    Baser ME, Ragge NK, Riccardi VM, Janus T, Gantz B, Pulst SM.
    Am J Med Genet; 1996 Sep 06; 64(4):563-7. PubMed ID: 8870923
    [Abstract] [Full Text] [Related]

  • 19. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 06; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 20. Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma.
    Irving RM, Harada T, Moffat DA, Hardy DG, Whittaker JL, Xuereb JH, Maher ER.
    Am J Otol; 1997 Nov 06; 18(6):754-60. PubMed ID: 9391673
    [Abstract] [Full Text] [Related]

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