179 related articles for article (PubMed ID: 23450468)
21. 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]
22. [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]
23. 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]
24. 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]
25. [Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region].
Zhang Y; Wang L; He J; Guo J; Jin C; Tang X; Zhang J; Chen H; Zhang J; Su J; Zhu B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):384-388. PubMed ID: 32219818
[TBL] [Abstract][Full Text] [Related]
26. Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.
Lyahyai J; Sbiti A; Barkat A; Ratbi I; Sefiani A
Genet Test Mol Biomarkers; 2012 Mar; 16(3):215-8. PubMed ID: 21950724
[TBL] [Abstract][Full Text] [Related]
27. Differences in SMN1 allele frequencies among ethnic groups within North America.
Hendrickson BC; Donohoe C; Akmaev VR; Sugarman EA; Labrousse P; Boguslavskiy L; Flynn K; Rohlfs EM; Walker A; Allitto B; Sears C; Scholl T
J Med Genet; 2009 Sep; 46(9):641-4. PubMed ID: 19625283
[TBL] [Abstract][Full Text] [Related]
28. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.
Alías L; Bernal S; Calucho M; Martínez E; March F; Gallano P; Fuentes-Prior P; Abuli A; Serra-Juhe C; Tizzano EF
Eur J Hum Genet; 2018 Oct; 26(10):1554-1557. PubMed ID: 29904179
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. The Carrier Frequency of Two
Davidson JE; Russell JS; Martinez NN; Mowat DR; Jones KJ; Kirk EP; Kariyawasam D; Farrar M; D'Silva A
Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510307
[TBL] [Abstract][Full Text] [Related]
31. [Clinical application of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy].
Jiang Y; Peng G; Wu Q; Zhou Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):180-4. PubMed ID: 24711027
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR.
Wieme MH; Monia Ben H; Yosr B; Sihem S; Nawel T; Ines MA; Wajdi B; Najla K; Houda N; Faycal H; Rim A
Diagn Mol Pathol; 2012 Sep; 21(3):172-5. PubMed ID: 22847162
[TBL] [Abstract][Full Text] [Related]
34. Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method.
Azad AK; Huang CK; Jin H; Zou H; Yanakakis L; Du J; Fiddler M; Naeem R; Goldstein Y
Lab Med; 2020 Jul; 51(4):408-415. PubMed ID: 31875889
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
Cuscó I; Barceló MJ; Baiget M; Tizzano EF
Hum Mutat; 2002 Dec; 20(6):452-9. PubMed ID: 12442269
[TBL] [Abstract][Full Text] [Related]
37. 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; 15(10):1090-3. PubMed ID: 17625510
[TBL] [Abstract][Full Text] [Related]
38. Application of multiplex competitive PCR combined with capillary electrophoresis in carrier screening of spinal muscular atrophy.
Li YR; Lv J; Wang YG; Tan JX; Shao BB; Zhang JJ
Yi Chuan; 2022 Jul; 44(7):618-628. PubMed ID: 35858773
[TBL] [Abstract][Full Text] [Related]
39. [Spinal muscular atrophy carrier frequency in Ukraine].
Solov'ev AA; Grishchenko NV; Livshits LA
Genetika; 2013 Sep; 49(9):1126-8. PubMed ID: 25486782
[TBL] [Abstract][Full Text] [Related]
40. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.
Prior TW; Bayrak-Toydemir P; Lynnes TC; Mao R; Metcalf JD; Muralidharan K; Iwata-Otsubo A; Pham HT; Pratt VM; Qureshi S; Requesens D; Shen J; Vetrini F; Kalman L
J Mol Diagn; 2021 Jan; 23(1):103-110. PubMed ID: 33197628
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
