663 related articles for article (PubMed ID: 19350502)
1. [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].
Zeng J; Lin YH; Yan AZ; Cai MY; Ke LF; Lan FH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):139-43. PubMed ID: 19350502
[TBL] [Abstract][Full Text] [Related]
2. [Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].
Zeng J; Ke LF; Deng XJ; Cai MY; Tu XD; Lan FH
Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3262-4. PubMed ID: 19159550
[TBL] [Abstract][Full Text] [Related]
3. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E; Hedvicáková P; Kozák L; Vondrácek P; Gaillyová R; Maríková T; Kalina Z; Jüttnerová V; Fajkus J; Fajkusová L
Neuromuscul Disord; 2007 Jun; 17(6):476-81. PubMed ID: 17475491
[TBL] [Abstract][Full Text] [Related]
4. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
[TBL] [Abstract][Full Text] [Related]
5. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
Martín Y; Valero A; del Castillo E; Pascual SI; Hernández-Chico C
Hum Genet; 2002 Mar; 110(3):257-63. PubMed ID: 11935338
[TBL] [Abstract][Full Text] [Related]
6. [Quantitative analysis of the genes determining spinal muscular atrophy].
Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V
Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129
[TBL] [Abstract][Full Text] [Related]
7. [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].
Long MJ; Song F; Qu YJ; Meng Y; Wang H; Jin YW; Huang SZ
Zhonghua Yi Xue Za Zhi; 2008 May; 88(18):1259-63. PubMed ID: 18844099
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S; Wilson RB
Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240
[TBL] [Abstract][Full Text] [Related]
10. [Prenatal diagnosis of 5 fetuses with high risk of developing spinal muscular atrophy].
Lan FH; Zeng J; Huang HJ; Ke LF; Tu XD; Huang LH; Li HZ; Zheng DZ; Yang BS
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):373-7. PubMed ID: 17680523
[TBL] [Abstract][Full Text] [Related]
11. [Gene diagnosis for spinal muscular atrophy and its application study].
Cao DH; Ren MH; Lin CK; Cui WT; Ma HW; Wu YY; Jin CL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):306-9. PubMed ID: 19504445
[TBL] [Abstract][Full Text] [Related]
12. 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; 31(1):42-5. PubMed ID: 18842367
[TBL] [Abstract][Full Text] [Related]
13. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
DU J; Qu YJ; Xiong H; Li EZ; Jin YW; Bai JL; Wang H; Song F
Zhonghua Er Ke Za Zhi; 2011 Jun; 49(6):411-5. PubMed ID: 21924051
[TBL] [Abstract][Full Text] [Related]
14. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Cuscó I; López E; Soler-Botija C; Jesús Barceló M; Baiget M; Tizzano EF
Hum Mutat; 2003 Aug; 22(2):136-43. PubMed ID: 12872254
[TBL] [Abstract][Full Text] [Related]
15. 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(10):1054-62. PubMed ID: 17609673
[TBL] [Abstract][Full Text] [Related]
16. Determination of SMN1 and SMN2 copy number using TaqMan technology.
Anhuf D; Eggermann T; Rudnik-Schöneborn S; Zerres K
Hum Mutat; 2003 Jul; 22(1):74-8. PubMed ID: 12815596
[TBL] [Abstract][Full Text] [Related]
17. 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; 314(4):878-86. PubMed ID: 18078930
[TBL] [Abstract][Full Text] [Related]
18. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
Thurmond J; Butchbach ME; Palomo M; Pease B; Rao M; Bedell L; Keyvan M; Pai G; Mishra R; Haraldsson M; Andresson T; Bragason G; Thosteinsdottir M; Bjornsson JM; Coovert DD; Burghes AH; Gurney ME; Singh J
J Med Chem; 2008 Feb; 51(3):449-69. PubMed ID: 18205293
[TBL] [Abstract][Full Text] [Related]
19. [Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].
Cao YY; Qu YJ; Song F; Bai JL; Jin YW; Wang H; Li Y; Zhang WH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Aug; 30(4):410-4. PubMed ID: 23926006
[TBL] [Abstract][Full Text] [Related]
20. [Analysis of deletional damage in SMN1, SMN2, and NAIP genes in patients with spinal muscular atrophy in the northwestern region of Russia].
Glotov AS; Kiselev AV; Ivashchenko TE; Baranov VS
Genetika; 2001 Aug; 37(8):1156-9. PubMed ID: 11642117
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
