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Journal Abstract Search

203 related items for PubMed ID: 16049987

  • 21.
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  • 22. Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.
    Mrad R, Dorboz I, Ben Jemaa L, Maazoul F, Trabelsi M, Chaabouni M, Mlaiki B, Miladi N, Hentati F, Chaabouni H.
    Tunis Med; 2006 Aug; 84(8):465-9. PubMed ID: 17175684
    [Abstract] [Full Text] [Related]

  • 23. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
    Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH.
    Neurology; 2005 Sep 27; 65(6):820-5. PubMed ID: 16093455
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  • 25. 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 27; 18(2):146-9. PubMed ID: 18155522
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  • 26. Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.
    Majumdar R, Rehana Z, Al Jumah M, Fetaini N.
    Ann Hum Genet; 2005 Mar 27; 69(Pt 2):216-21. PubMed ID: 15720302
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  • 27. Prenatal diagnosis of spinal muscular atrophy in Turkish families.
    Erdem H, Dayangaç D, Pehlivan S, Topaloglu H.
    Cent Eur J Public Health; 2001 Feb 27; 9(1):35-7. PubMed ID: 11243588
    [Abstract] [Full Text] [Related]

  • 28. Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.
    Alias L, Barceló MJ, Gich I, Estapé M, Parra J, Amenedo M, Baiget M, Tizzano EF.
    Eur J Hum Genet; 2007 Oct 27; 15(10):1090-3. PubMed ID: 17625510
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  • 29.
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  • 30. Genetic risk assessment in carrier testing for spinal muscular atrophy.
    Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB.
    Am J Med Genet; 2002 Jul 15; 110(4):301-7. PubMed ID: 12116201
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  • 32. 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
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  • 33. Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
    Gamez J, Also E, Alias L, Corbera-Bellalta M, Barceló MJ, Centeno M, Raguer N, Gratacós M, Baiget M, Tizzano EF.
    Clin Neurol Neurosurg; 2007 Dec 15; 109(10):844-8. PubMed ID: 17850955
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  • 35. Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy.
    Zilfalil BA, Zabidi-Hussin AM, Watihayati MS, Rozainah MY, Naing L, Sutomo R, Nishio H, Narazah MY, Matsuo M.
    Med J Malaysia; 2004 Oct 15; 59(4):512-4. PubMed ID: 15779584
    [Abstract] [Full Text] [Related]

  • 36. High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.
    Bouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, Chkili T.
    J Neurol; 2003 Oct 15; 250(10):1209-13. PubMed ID: 14586604
    [Abstract] [Full Text] [Related]

  • 37. Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells.
    Yaron Y, Cohen T, Mey-Raz N, Schwartz T, Amit A, Malcov M.
    Genet Test; 2006 Oct 15; 10(1):18-23. PubMed ID: 16544998
    [Abstract] [Full Text] [Related]

  • 38. SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.
    Scheffer H, Cobben JM, Mensink RG, Stulp RP, van der Steege G, Buys CH.
    Eur J Hum Genet; 2000 Feb 15; 8(2):79-86. PubMed ID: 10757638
    [Abstract] [Full Text] [Related]

  • 39. A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
    Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M.
    Eur J Hum Genet; 2007 Oct 15; 15(10):1054-62. PubMed ID: 17609673
    [Abstract] [Full Text] [Related]

  • 40. Prenatal prediction of spinal muscular atrophy by SMN deletion analysis.
    Dhamcharee V, Mutirangura A, Tannirandom Y, Jongpiputvanich S, Romyanan O.
    Southeast Asian J Trop Med Public Health; 1999 Oct 15; 30 Suppl 2():186-7. PubMed ID: 11400766
    [Abstract] [Full Text] [Related]

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