218 related articles for article (PubMed ID: 21631299)
1. Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations.
Morikawa S; Harahap IS; Kaszynski RH; Yamamoto T; Pramudya DK; Pham HT; Hartomo TB; Lee MJ; Morioka I; Nishimura N; Yokoyama N; Ueno Y; Matsuo M; Nishio H
Genet Test Mol Biomarkers; 2011 Oct; 15(10):677-84. PubMed ID: 21631299
[TBL] [Abstract][Full Text] [Related]
2. A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.
Sa'adah N; Harahap NI; Nurputra DK; Rochmah MA; Morikawa S; Nishimura N; Sadewa AH; Astuti I; Haryana SM; Saito T; Saito K; Nishio H
Clin Lab; 2015; 61(5-6):575-80. PubMed ID: 26118191
[TBL] [Abstract][Full Text] [Related]
3. Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion.
Baris I; Etlik O; Koksal V; Arican-Baris ST
Mol Cell Probes; 2010 Jun; 24(3):138-41. PubMed ID: 20025960
[TBL] [Abstract][Full Text] [Related]
4. Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy.
Wang KC; Chang CC; Chang YF; Wang SH; Chiang CK; Tsai CP
J Neurogenet; 2015; 29(2-3):113-6. PubMed ID: 25895942
[TBL] [Abstract][Full Text] [Related]
5. High-resolution melting (HRM) analysis as a feasible method for detecting spinal muscular atrophy via dried blood spots.
Er TK; Kan TM; Su YF; Liu TC; Chang JG; Hung SY; Jong YJ
Clin Chim Acta; 2012 Nov; 413(21-22):1781-5. PubMed ID: 22771969
[TBL] [Abstract][Full Text] [Related]
6. Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis.
Chen WJ; Dong WJ; Lin XZ; Lin MT; Murong SX; Wu ZY; Wang N
BMC Med Genet; 2009 May; 10():45. PubMed ID: 19480685
[TBL] [Abstract][Full Text] [Related]
7. False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.
Kang SH; Cho SI; Chae JH; Chung KN; Ra EK; Kim SY; Seong MW; Kim JY; Park SS
Genet Test Mol Biomarkers; 2009 Aug; 13(4):511-3. PubMed ID: 19663601
[TBL] [Abstract][Full Text] [Related]
8. Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.
Ganji H; Nouri N; Salehi M; Aryani O; Houshmand M; Basiri K; Fazel-Najafabadi E; Sedghi M
J Child Neurol; 2015 Apr; 30(5):558-62. PubMed ID: 24563475
[TBL] [Abstract][Full Text] [Related]
9. Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper.
Harahap NI; Harahap IS; Kaszynski RH; Nurputra DK; Hartomo TB; Pham HT; Yamamoto T; Morikawa S; Nishimura N; Rusdi I; Widiastuti R; Nishio H
Genet Test Mol Biomarkers; 2012 Feb; 16(2):123-9. PubMed ID: 21942573
[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. Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.
Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M
Kobe J Med Sci; 2019 Jul; 65(2):E49-E53. PubMed ID: 31956256
[TBL] [Abstract][Full Text] [Related]
12. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.
Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M
Kobe J Med Sci; 2019 Jul; 65(2):E44-E48. PubMed ID: 31956255
[TBL] [Abstract][Full Text] [Related]
13. SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test.
Kato N; Sa'Adah N; Ar Rochmah M; Harahap NI; Nurputra DK; Sato H; Sadewa AH; Astuti I; Haryana SM; Saito T; Saito K; Nishimura N; Nishio H; Takeuchi A
Kobe J Med Sci; 2015 Jan; 60(4):E78-85. PubMed ID: 25791416
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA.
Ar Rochmah M; Harahap NIF; Niba ETE; Nakanishi K; Awano H; Morioka I; Iijima K; Saito T; Saito K; Lai PS; Takeshima Y; Takeuchi A; Bouike Y; Okamoto M; Nishio H; Shinohara M
Brain Dev; 2017 Oct; 39(9):774-782. PubMed ID: 28522225
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.
Kubo Y; Nishio H; Saito K
J Hum Genet; 2015 May; 60(5):233-9. PubMed ID: 25716911
[TBL] [Abstract][Full Text] [Related]
19. Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
Wijaya YOS; Nishio H; Niba ETE; Shiroshita T; Kato M; Bouike Y; Tode C; Ar Rochmah M; Harahap NIF; Nurputra DK; Okamoto K; Saito T; Takeuchi A; Lai PS; Yamaguchi S; Shinohara M
Genet Test Mol Biomarkers; 2021 Apr; 25(4):293-301. PubMed ID: 33877896
[No Abstract] [Full Text] [Related]
20. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]