These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

300 related items for PubMed ID: 12116201

  • 21. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
    Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M.
    Neuromuscul Disord; 2006 Dec; 16(12):830-8. PubMed ID: 17049859
    [Abstract] [Full Text] [Related]

  • 22. SMN1 dosage analysis in spinal muscular atrophy from India.
    Kesari A, Rennert H, Leonard DG, Mittal B.
    BMC Med Genet; 2005 May 23; 6():22. PubMed ID: 15910686
    [Abstract] [Full Text] [Related]

  • 23.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 24.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 25.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 28. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
    Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, Tang TH, Zabidi-Hussin ZA, Nishio H, Zilfalil BA.
    Brain Dev; 2009 Jan 23; 31(1):42-5. PubMed ID: 18842367
    [Abstract] [Full Text] [Related]

  • 29. A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.
    Eggermann T, Eggermann K, Elbracht M, Zerres K, Rudnik-Schöneborn S.
    Neuromuscul Disord; 2008 Feb 23; 18(2):146-9. PubMed ID: 18155522
    [Abstract] [Full Text] [Related]

  • 30. Unaffected patients with a homozygous absence of the SMN1 gene.
    Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I.
    Eur J Hum Genet; 2008 Aug 23; 16(8):930-4. PubMed ID: 18337729
    [Abstract] [Full Text] [Related]

  • 31. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis.
    Chen WJ, Wu ZY, Lin MT, Su JF, Lin Y, Murong SX, Wang N.
    Arch Neurol; 2007 Feb 23; 64(2):225-31. PubMed ID: 17296838
    [Abstract] [Full Text] [Related]

  • 32. Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
    Kesari A, Rennert H, Leonard DG, Phadke SR, Mittal B.
    Prenat Diagn; 2005 Aug 23; 25(8):641-4. PubMed ID: 16049987
    [Abstract] [Full Text] [Related]

  • 33. Prenatal diagnosis for risk of spinal muscular atrophy.
    Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E.
    BJOG; 2002 Nov 23; 109(11):1244-9. PubMed ID: 12452462
    [Abstract] [Full Text] [Related]

  • 34. [Quantitative analysis of SMN gene copies in spinal muscular atrophy].
    Ding HX, Yang XS, Xiao B, Wu ZG, Zhang LF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr 23; 21(2):153-5. PubMed ID: 15079799
    [Abstract] [Full Text] [Related]

  • 35. Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.
    Al-Jumah M, Majumdar R, Al-Rajeh S, Awada A, Chaves-Carbello E, Salih M, Al-Shahwan S, Al-Subiey K, Al-Uthaim S.
    Saudi Med J; 2003 Oct 23; 24(10):1052-4. PubMed ID: 14578966
    [Abstract] [Full Text] [Related]

  • 36. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
    Sutomo R, Akutsu T, Takeshima Y, Nishio H, Sadewa AH, Harada Y, Matsuo M.
    Am J Med Genet; 2002 Nov 22; 113(2):225-6. PubMed ID: 12407717
    [No Abstract] [Full Text] [Related]

  • 37. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
    DiMatteo D, Callahan S, Kmiec EB.
    Exp Cell Res; 2008 Feb 15; 314(4):878-86. PubMed ID: 18078930
    [Abstract] [Full Text] [Related]

  • 38. Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy.
    Girardet A, Fernandez C, Claustres M.
    Fertil Steril; 2008 Aug 15; 90(2):443.e7-12. PubMed ID: 17953949
    [Abstract] [Full Text] [Related]

  • 39. Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.
    Moutou C, Machev N, Gardes N, Viville S.
    Prenat Diagn; 2006 Nov 15; 26(11):1037-41. PubMed ID: 16941715
    [Abstract] [Full Text] [Related]

  • 40. Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
    Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M.
    Eur J Hum Genet; 2004 Sep 15; 12(9):729-37. PubMed ID: 15162126
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 15.