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Journal Abstract Search

238 related items for PubMed ID: 10980530

  • 1.
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  • 2. Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.
    Pylkäs K, Tommiska J, Syrjäkoski K, Kere J, Gatei M, Waddell N, Allinen M, Karppinen SM, Rapakko K, Kääriäinen H, Aittomäki K, Blomqvist C, Mustonen A, Holli K, Khanna KK, Kallioniemi OP, Nevanlinna H, Winqvist R.
    Carcinogenesis; 2007 May; 28(5):1040-5. PubMed ID: 17166884
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  • 3. ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
    Cavalieri S, Funaro A, Porcedda P, Turinetto V, Migone N, Gatti RA, Brusco A.
    Hum Mutat; 2006 Oct; 27(10):1061. PubMed ID: 16941484
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  • 4. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 5. ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
    Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G, Purayidom A, Concannon P, Gatti RA.
    Ann Hum Genet; 2005 Nov; 69(Pt 6):657-64. PubMed ID: 16266405
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  • 6. Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.
    Laake K, Telatar M, Geitvik GA, Hansen RO, Heiberg A, Andresen AM, Gatti R, Børresen-Dale AL.
    Eur J Hum Genet; 1998 Nov; 6(3):235-44. PubMed ID: 9781027
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  • 9. Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.
    Fukao T, Song XQ, Yoshida T, Tashita H, Kaneko H, Teramoto T, Inoue R, Katamura K, Mayumi M, Hiratani M, Taniguchi N, Arai J, Wakiguchi H, Bar-Shira A, Shiloh Y, Kondo N.
    Hum Mutat; 1998 Nov; 12(5):338-43. PubMed ID: 9792410
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  • 10. Comprehensive scanning of the ATM gene with DOVAM-S.
    Buzin CH, Gatti RA, Nguyen VQ, Wen CY, Mitui M, Sanal O, Chen JS, Nozari G, Mengos A, Li X, Fujimura F, Sommer SS.
    Hum Mutat; 2003 Feb; 21(2):123-31. PubMed ID: 12552559
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  • 11. ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
    Broeks A, de Klein A, Floore AN, Muijtjens M, Kleijer WJ, Jaspers NG, van 't Veer LJ.
    Hum Mutat; 1998 Feb; 12(5):330-7. PubMed ID: 9792409
    [Abstract] [Full Text] [Related]

  • 12. Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
    Saviozzi S, Saluto A, Piane M, Prudente S, Migone N, DeMarchi M, Brusco A, Chessa L.
    Hum Mutat; 2003 Apr; 21(4):450. PubMed ID: 12655570
    [Abstract] [Full Text] [Related]

  • 13. ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
    Sasaki T, Tian H, Kukita Y, Inazuka M, Tahira T, Imai T, Yamauchi M, Saito T, Hori T, Hashimoto-Tamaoki T, Komatsu K, Nikaido O, Hayashi K.
    Hum Mutat; 1998 Apr; 12(3):186-95. PubMed ID: 9711876
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  • 14. Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
    Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D.
    Hum Mol Genet; 1999 Jan; 8(1):69-79. PubMed ID: 9887333
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  • 16. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
    Concannon P, Gatti RA.
    Hum Mutat; 1997 Jan; 10(2):100-7. PubMed ID: 9259193
    [Abstract] [Full Text] [Related]

  • 17. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
    Olsen JH, Hahnemann JM, Børresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarström L, Robsahm TE, Kääriäinen H, Bregård A, Brøndum-Nielsen K, Yuen J, Tucker M.
    Br J Cancer; 2005 Jul 25; 93(2):260-5. PubMed ID: 15942625
    [Abstract] [Full Text] [Related]

  • 18. Clinical spectrum of ataxia-telangiectasia in adulthood.
    Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van't Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M.
    Neurology; 2009 Aug 11; 73(6):430-7. PubMed ID: 19535770
    [Abstract] [Full Text] [Related]

  • 19. ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients.
    Sanati MH, Bayat B, Aleyasin A, Atashi Shirazi H, Isaian A, Farhoudi A, Moin M.
    Iran J Allergy Asthma Immunol; 2004 Jun 11; 3(2):59-63. PubMed ID: 17301393
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