265 related articles for article (PubMed ID: 11336398)
1. A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.
Semprini S; Tacconelli A; Capon F; Brancati F; Dallapiccola B; Novelli G
Genet Test; 2001; 5(1):33-7. PubMed ID: 11336398
[TBL] [Abstract][Full Text] [Related]
2. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
Botta A; Tacconelli A; Bagni I; Giardina E; Bonifazi E; Pietropolli A; Clementi M; Novelli G
Neurology; 2005 Nov; 65(10):1631-5. PubMed ID: 16301493
[TBL] [Abstract][Full Text] [Related]
3. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
Feldkötter M; Schwarzer V; Wirth R; Wienker TF; Wirth B
Am J Hum Genet; 2002 Feb; 70(2):358-68. PubMed ID: 11791208
[TBL] [Abstract][Full Text] [Related]
4. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
Su YN; Hung CC; Li H; Lee CN; Cheng WF; Tsao PN; Chang MC; Yu CL; Hsieh WS; Lin WL; Hsu SM
Hum Mutat; 2005 May; 25(5):460-7. PubMed ID: 15832310
[TBL] [Abstract][Full Text] [Related]
5. 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; 10(1):18-23. PubMed ID: 16544998
[TBL] [Abstract][Full Text] [Related]
6. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O; Burlet P; Benit P; Chanterau D; Saugier-Veber P; Munnich A; Cusin V
Hum Mutat; 2004 Nov; 24(5):417-27. PubMed ID: 15459957
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B
Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S; Wilson RB
Expert Rev Mol Diagn; 2004 Jan; 4(1):15-29. PubMed ID: 14711346
[TBL] [Abstract][Full Text] [Related]
13. Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).
Jedrzejowska M; Wiszniewski W; Zimowski J; Kostera-Pruszczyk A; Ryniewicz B; Bal J; Zaremba J; Mazurczak T; Hausmanowa-Petrusewicz I
Neurol Neurochir Pol; 2005; 39(2):89-94. PubMed ID: 15871052
[TBL] [Abstract][Full Text] [Related]
14. Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy.
Simsek M; Al-Bulushi T; Shanmugakonar M; Al-Barwani HS; Bayoumi R
Genet Test; 2003; 7(4):325-7. PubMed ID: 15000810
[TBL] [Abstract][Full Text] [Related]
15. Population screening and cascade testing for carriers of SMA.
Smith M; Calabro V; Chong B; Gardiner N; Cowie S; du Sart D
Eur J Hum Genet; 2007 Jul; 15(7):759-66. PubMed ID: 17392705
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
Lee TM; Kim SW; Lee KS; Jin HS; Koo SK; Jo I; Kang S; Jung SC
J Korean Med Sci; 2004 Dec; 19(6):870-3. PubMed ID: 15608400
[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. Spinal muscular atrophy genetic testing experience at an academic medical center.
Ogino S; Leonard DG; Rennert H; Wilson RB
J Mol Diagn; 2002 Feb; 4(1):53-8. PubMed ID: 11826188
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
