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Journal Abstract Search

238 related items for PubMed ID: 10980530

  • 21. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [Abstract] [Full Text] [Related]

  • 22. Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.
    Coutinho G, Mitui M, Campbell C, Costa Carvalho BT, Nahas S, Sun X, Huo Y, Lai CH, Thorstenson Y, Tanouye R, Raskin S, Kim CA, Llerena J, Gatti RA.
    Am J Med Genet A; 2004 Apr 01; 126A(1):33-40. PubMed ID: 15039971
    [Abstract] [Full Text] [Related]

  • 23. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.
    Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, Dörk T, Burge C, Gatti RA.
    Hum Mutat; 2004 Jan 01; 23(1):67-76. PubMed ID: 14695534
    [Abstract] [Full Text] [Related]

  • 24. [Ataxia-telangiectasia surveyed in Sweden].
    Lähdesmäki A, Arinbjarnarson K, Arvidsson J, el Segaier M, Fasth A, Fernell E, Gustafsson D, Oxelius VA, Risberg K, Yuen J, Zetterlund P, von Zweigbergk M, Ahsgren I, Hammarström L.
    Lakartidningen; 2000 Oct 04; 97(40):4461-5, 4467. PubMed ID: 11068401
    [Abstract] [Full Text] [Related]

  • 25. Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
    Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T, Mizutani S, Brusco A, Gatti RA.
    Hum Mutat; 2012 Jan 04; 33(1):198-208. PubMed ID: 22006793
    [Abstract] [Full Text] [Related]

  • 26. Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
    Ejima Y, Sasaki MS.
    Hum Genet; 1998 Apr 04; 102(4):403-8. PubMed ID: 9600235
    [Abstract] [Full Text] [Related]

  • 27. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
    Steiner B, Truninger K, Sanz J, Schaller A, Gallati S.
    Hum Mutat; 2004 Aug 04; 24(2):120-9. PubMed ID: 15241793
    [Abstract] [Full Text] [Related]

  • 28. Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
    Huang Y, Yang L, Wang J, Yang F, Xiao Y, Xia R, Yuan X, Yan M.
    Neuromolecular Med; 2013 Sep 04; 15(3):536-40. PubMed ID: 23807571
    [Abstract] [Full Text] [Related]

  • 29. Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.
    Hassin-Baer S, Bar-Shira A, Gilad S, Galanty Y, Khosravi R, Lossos A, Giladi N, Weitz R, Ben-Zeev B, Goldhammer Y, Shiloh Y.
    J Neurol; 1999 Aug 04; 246(8):716-9. PubMed ID: 10460451
    [Abstract] [Full Text] [Related]

  • 30. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
    Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V, French Group of WS.
    Hum Mutat; 2005 Jan 04; 25(1):99-100. PubMed ID: 15605410
    [Abstract] [Full Text] [Related]

  • 31. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
    Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE.
    Hum Mutat; 2003 Jul 04; 22(1):35-42. PubMed ID: 12815591
    [Abstract] [Full Text] [Related]

  • 32. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
    Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T.
    Eur J Hum Genet; 2005 Dec 04; 13(12):1275-84. PubMed ID: 16151413
    [Abstract] [Full Text] [Related]

  • 33. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
    Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zäch S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B.
    Hum Mutat; 2005 Sep 04; 26(3):235-48. PubMed ID: 16086317
    [Abstract] [Full Text] [Related]

  • 34. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
    Martin-Rodriguez S, Calvo-Ferrer A, Ortega-Unanue N, Samaniego-Jimenez L, Sanz-Izquierdo MP, Bernardo-Gonzalez I.
    Ann Hum Genet; 2019 Jul 04; 83(4):266-273. PubMed ID: 30888062
    [Abstract] [Full Text] [Related]

  • 35. Novel ATM mutations with ataxia-telangiectasia.
    Liu XL, Wang T, Huang XJ, Zhou HY, Luan XH, Shen JY, Chen SD, Cao L.
    Neurosci Lett; 2016 Jan 12; 611():112-5. PubMed ID: 26628246
    [Abstract] [Full Text] [Related]

  • 36. Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia.
    Stankovic T, Weber P, Stewart G, Bedenham T, Murray J, Byrd PJ, Moss PA, Taylor AM.
    Lancet; 1999 Jan 02; 353(9146):26-9. PubMed ID: 10023947
    [Abstract] [Full Text] [Related]

  • 37. ATM Gene Mutation Detection Techniques and Functional Analysis.
    Rieunier G, D'Enghien CD, Fievet A, Bellanger D, Stoppa-Lyonnet D, Stern MH.
    Methods Mol Biol; 2017 Jan 02; 1599():25-42. PubMed ID: 28477109
    [Abstract] [Full Text] [Related]

  • 38. Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer.
    Kim YJ, Ahn KS, Kim M, Kim MJ, Park SM, Ryu J, Ahn JS, Heo SY, Kang JH, Choi YJ, Choi SJ, Shim H.
    Biochem Biophys Res Commun; 2014 Oct 03; 452(4):901-5. PubMed ID: 25193705
    [Abstract] [Full Text] [Related]

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