174 related articles for article (PubMed ID: 30098235)
21. [A pilot study on spinal muscular atrophy carrier screening in Shanghai region using real-time PCR].
Qu XX; Xiao B; Ji X; Jiang WT; Yang ZJ; Tao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):1-4. PubMed ID: 23450468
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. [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]
24. [Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy].
Zeng G; Zheng H; Cheng J; Chen R; Lin H; Yang J; Zhang D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):152-5. PubMed ID: 24711022
[TBL] [Abstract][Full Text] [Related]
25. SMN1 dosage analysis in spinal muscular atrophy from India.
Kesari A; Rennert H; Leonard DG; Mittal B
BMC Med Genet; 2005 May; 6():22. PubMed ID: 15910686
[TBL] [Abstract][Full Text] [Related]
26. [Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
QU YJ; DU J; LI EZ; YANG YL; ZOU LP; BAI JL; WANG H; JIN YW; SONG F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):121-6. PubMed ID: 21462119
[TBL] [Abstract][Full Text] [Related]
27. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.
Basel-Vanagaite L; Taub E; Drasinover V; Magal N; Brudner A; Zlotogora J; Shohat M
Genet Test; 2008 Mar; 12(1):53-6. PubMed ID: 18298318
[TBL] [Abstract][Full Text] [Related]
28. Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing.
Li S; Han X; Xu Y; Chang C; Gao L; Li J; Lu Y; Mao A; Wang Y
J Mol Diagn; 2022 Sep; 24(9):1009-1020. PubMed ID: 35659528
[TBL] [Abstract][Full Text] [Related]
29. Carrier frequency of spinal muscular atrophy in Thailand.
Dejsuphong D; Taweewongsounton A; Khemthong P; Chitphuk S; Stitchantrakul W; Sritara P; Tunteeratum A; Sura T
Neurol Sci; 2019 Aug; 40(8):1729-1732. PubMed ID: 31004230
[TBL] [Abstract][Full Text] [Related]
30. Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.
Abbaszadegan MR; Keify F; Ashrafzadeh F; Farshchian M; Khadivi-Zand F; Teymoorzadeh MN; Mojahedi F; Ebrahimzadeh R; Ahadian M
Arch Iran Med; 2011 May; 14(3):188-91. PubMed ID: 21529108
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.
Pan J; Zhang C; Teng Y; Zeng S; Chen S; Liang D; Li Z; Wu L
Ann Lab Med; 2021 Jan; 41(1):101-107. PubMed ID: 32829585
[TBL] [Abstract][Full Text] [Related]
33. Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
Wei X; Tan H; Yang P; Zhang R; Tan B; Zhang Y; Mei L; Liang D; Wu L
J Genet Couns; 2017 Feb; 26(1):72-78. PubMed ID: 27422779
[TBL] [Abstract][Full Text] [Related]
34. Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.
Serra-Juhe C; Tizzano EF
Eur J Hum Genet; 2019 Dec; 27(12):1774-1782. PubMed ID: 31053787
[TBL] [Abstract][Full Text] [Related]
35. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.
Hasanzad M; Azad M; Kahrizi K; Saffar BS; Nafisi S; Keyhanidoust Z; Azimian M; Refah AA; Also E; Urtizberea JA; Tizzano EF; Najmabadi H
Eur J Neurol; 2010 Jan; 17(1):160-2. PubMed ID: 19538222
[TBL] [Abstract][Full Text] [Related]
36. [An evaluation of carrier detection for Spinal muscular atrophy using digital PCR assay].
Yan Y; Tan C; Zhang M; Wang F; Wang Y; Chen X; Yin C; Guo Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):20-24. PubMed ID: 38171554
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. [Denaturing high-performance liquid chromatography coupled with multiplex PCR for rapid detection of large duplications or deletions in patients with Duchenne muscular dystrophy and spinal muscular atrophy].
Zou HQ; Zhao BJ; Yan J; Han W; Xiong MH; Peng KR
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):686-9. PubMed ID: 23225050
[TBL] [Abstract][Full Text] [Related]
40. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen X; Sanchis-Juan A; French CE; Connell AJ; Delon I; Kingsbury Z; Chawla A; Halpern AL; Taft RJ; ; Bentley DR; Butchbach MER; Raymond FL; Eberle MA
Genet Med; 2020 May; 22(5):945-953. PubMed ID: 32066871
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
