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Journal Abstract Search

182 related items for PubMed ID: 9605590

  • 21.
    ; . PubMed ID:
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  • 22. [Genetic analysis of RET mutations in families with multiple endocrine neoplasia type II in the community of Murcia].
    Pomares Gómez FJ, Bernabé Espinosa MJ, Matías-Guiu Guía X, Rodríguez González JM, Soriano Palao J, Sola Pérez J, Carbonell Meseguer P, Parrilla Paricio P, Tébar Massó FJ.
    Med Clin (Barc); 1999 May 15; 112(17):646-50. PubMed ID: 10374185
    [Abstract] [Full Text] [Related]

  • 23. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 24. [Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene].
    Sabol Z, Kipke-Sabol L, Miklić P, Hajnsek-Propadalo S, Sabol F.
    Lijec Vjesn; 2006 Aug 15; 128(9-10):309-16. PubMed ID: 17128670
    [Abstract] [Full Text] [Related]

  • 25. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.
    Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N.
    Am J Med Genet; 1994 Oct 01; 52(4):450-61. PubMed ID: 7747758
    [Abstract] [Full Text] [Related]

  • 26. [Development and establishment of a yeast-based stop codon assay for detection of NF2 gene premature-terminating mutations].
    Kobayashi H.
    Hokkaido Igaku Zasshi; 1999 Sep 01; 74(5):377-86. PubMed ID: 10495852
    [Abstract] [Full Text] [Related]

  • 27. Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.
    Tamary H, Dgany O, Toledano H, Shalev Z, Krasnov T, Shalmon L, Schechter T, Bercovich D, Attias D, Laor R, Koren A, Yaniv I.
    Eur J Haematol; 2004 May 01; 72(5):330-5. PubMed ID: 15059067
    [Abstract] [Full Text] [Related]

  • 28. Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography.
    Kim JH, Kim IS, Kwon SY, Jang BC, Suh SI, Shin DH, Jeon CH, Son EI, Kim SP.
    Int J Mol Med; 2006 Jul 01; 18(1):27-32. PubMed ID: 16786152
    [Abstract] [Full Text] [Related]

  • 29. The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene.
    Baser ME, Contributors to the International NF2 Mutation Database.
    Hum Mutat; 2006 Apr 01; 27(4):297-306. PubMed ID: 16521120
    [Abstract] [Full Text] [Related]

  • 30. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.
    Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA.
    Am J Hum Genet; 1996 Aug 01; 59(2):331-42. PubMed ID: 8755919
    [Abstract] [Full Text] [Related]

  • 31. Neurofibromatosis type 2: molecular and clinical analyses in Argentine sporadic and familial cases.
    Ferrer M, Schulze A, Gonzalez S, Ferreiro V, Ciavarelli P, Otero J, Giliberto F, Basso A, Szijan I.
    Neurosci Lett; 2010 Aug 09; 480(1):49-54. PubMed ID: 20553997
    [Abstract] [Full Text] [Related]

  • 32. Mutational analysis of the nf2 tumour suppressor gene in three subtypes of primary human malignant mesotheliomas.
    Schipper H, Papp T, Johnen G, Pemsel H, Bastrop R, Müller KM, Wiethege T, Jaworska M, Krismann M, Schiffmann D, Rahman Q.
    Int J Oncol; 2003 May 09; 22(5):1009-17. PubMed ID: 12684666
    [Abstract] [Full Text] [Related]

  • 33. Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2.
    Baser ME, Makariou EV, Parry DM.
    J Neurosurg; 2002 Feb 09; 96(2):217-22. PubMed ID: 11838793
    [Abstract] [Full Text] [Related]

  • 34. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.
    Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L.
    Neuropediatrics; 2005 Feb 09; 36(1):21-34. PubMed ID: 15776319
    [Abstract] [Full Text] [Related]

  • 35. Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas.
    Hung G, Faudoa R, Baser ME, Xue Z, Kluwe L, Slattery W, Brackman D, Lim D.
    Cancer Genet Cytogenet; 2000 Apr 15; 118(2):167-8. PubMed ID: 10748301
    [Abstract] [Full Text] [Related]

  • 36. First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2).
    Abou-Sleiman PM, Apessos A, Harper JC, Serhal P, Winston RM, Delhanty JD.
    Prenat Diagn; 2002 Jun 15; 22(6):519-24. PubMed ID: 12116319
    [Abstract] [Full Text] [Related]

  • 37. Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas).
    Welling DB.
    Laryngoscope; 1998 Feb 15; 108(2):178-89. PubMed ID: 9473065
    [Abstract] [Full Text] [Related]

  • 38. 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 15; 97(2):224-7. PubMed ID: 8566958
    [Abstract] [Full Text] [Related]

  • 39.
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  • 40.
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