TY - JOUR AU - Lefebvre, S. AU - Bürglen, L. AU - Reboullet, S. AU - Clermont, O. AU - Burlet, P. AU - Viollet, L. AU - Benichou, B. AU - Cruaud, C. AU - Millasseau, P. AU - Zeviani, M. PY - 1995 DA - 1995// TI - Identification and characterization of a spinal muscular atrophy-determining gene JO - Cell VL - 80 UR - https://doi.org/10.1016/0092-8674(95)90460-3 DO - 10.1016/0092-8674(95)90460-3 ID - Lefebvre1995 ER - TY - JOUR AU - Steege, G. v. a. n. d. e. r. AU - Grootscholten, P. M. AU - Vlies, P. v. a. n. d. e. r. AU - Draaijers, T. G. AU - Osinga, J. AU - Cobben, J. M. AU - Scheffer, H. AU - Buys, C. H. PY - 1995 DA - 1995// TI - PCR-based DNA test to confirm the clinical diagnosis of autosomal recessive spinal muscular atrophy JO - Lancet VL - 345 UR - https://doi.org/10.1016/S0140-6736(95)90732-7 DO - 10.1016/S0140-6736(95)90732-7 ID - Steege1995 ER - TY - JOUR AU - Wu, Z. Y. AU - Wang, N. AU - Mu-Rong, S. X. AU - Lin, M. T. PY - 1998 DA - 1998// TI - Using polymerase chain reaction single strand conformation polymorphism to detect SMNTgene deletions and to confirm clinical diagnosis of spinal muscular atrophy in Chinese JO - Chin J Neurol VL - 31 ID - Wu1998 ER - TY - JOUR AU - McAndrew, P. E. AU - Parsons, D. W. AU - Simard, L. R. AU - Rochette, C. AU - Ray, P. N. AU - Mendell, J. R. AU - Prior, T. W. AU - Burghes, A. H. PY - 1997 DA - 1997// TI - Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNCgene copy number JO - Am J Hum Genet VL - 60 UR - https://doi.org/10.1086/515465 DO - 10.1086/515465 ID - McAndrew1997 ER - TY - JOUR AU - Feldkotter, M. AU - Schwarzer, V. AU - Wirth, R. AU - Wienker, T. F. AU - Wirth, B. PY - 2002 DA - 2002// TI - Quantitative analysis of SMN1 and SMN2based on real-time lightcycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy JO - Am J Hum Genet VL - 70 UR - https://doi.org/10.1086/338627 DO - 10.1086/338627 ID - Feldkotter2002 ER - TY - JOUR AU - Chen, W. J. AU - Wu, Z. Y. AU - Wang, N. AU - Lin, M. T. AU - Murong, S. -. X. PY - 2005 DA - 2005// TI - Study on the correlation between the SMN2copies and the phenotype of spinal muscular atrophy JO - Chin J Neurol VL - 38 ID - Chen2005 ER - TY - JOUR AU - Sutomo, R. AU - Akutsu, T. AU - Takeshima, Y. AU - Nishio, H. AU - Sadewa, A. H. AU - Harada, Y. AU - Mastsuo, M. PY - 2002 DA - 2002// TI - Rapid SMN1deletion test using DHPLC to screen patients with spinal muscular atrophy JO - Am J Med Genet VL - 113 UR - https://doi.org/10.1002/ajmg.10744 DO - 10.1002/ajmg.10744 ID - Sutomo2002 ER - TY - JOUR AU - Mazzei, R. AU - Conforti, F. L. AU - Muglia, M. AU - Sprovieri, T. AU - Patitucci, A. AU - Magariello, A. AU - Gabriele, A. L. AU - Quattrone, A. PY - 2003 DA - 2003// TI - A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography JO - J Child Neurol VL - 18 UR - https://doi.org/10.1177/08830738030180041301 DO - 10.1177/08830738030180041301 ID - Mazzei2003 ER - TY - JOUR AU - Chen, W. J. AU - Wu, Z. Y. AU - Wang, N. AU - Lin, M. T. AU - Mu-Rong, S. X. PY - 2005 DA - 2005// TI - Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 22 ID - Chen2005 ER - TY - JOUR AU - Pyatt, R. E. AU - Mihal, D. C. AU - Prior, T. W. PY - 2007 DA - 2007// TI - Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy JO - Clin Chem VL - 53 UR - https://doi.org/10.1373/clinchem.2007.092312 DO - 10.1373/clinchem.2007.092312 ID - Pyatt2007 ER - TY - JOUR AU - Reed, G. H. AU - Wittwer, C. T. PY - 2004 DA - 2004// TI - Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis JO - Clin Chem VL - 50 UR - https://doi.org/10.1373/clinchem.2003.029751 DO - 10.1373/clinchem.2003.029751 ID - Reed2004 ER - TY - JOUR AU - Munsat, T. L. AU - Davies, K. E. PY - 1992 DA - 1992// TI - International SMA consortium meeting JO - Neuromuscul Disord VL - 2 UR - https://doi.org/10.1016/S0960-8966(06)80015-5 DO - 10.1016/S0960-8966(06)80015-5 ID - Munsat1992 ER - TY - JOUR AU - Wang, N. AU - Wu, Z. Y. AU - Mu-Rong, S. X. AU - Lin, M. T. PY - 1999 DA - 1999// TI - Rapid gene diagnosis of spinal muscular atrophy JO - Chin J Neuroimmunol & Neurol VL - 6 ID - Wang1999 ER - TY - JOUR AU - Chen, W. J. AU - Wu, Z. Y. AU - Lin, M. T. AU - Su, J. F. AU - Lin, Y. AU - Mu-Rong, S. X. AU - Wang, N. PY - 2007 DA - 2007// TI - Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis JO - Archives of Neurology VL - 64 UR - https://doi.org/10.1001/archneur.64.2.225 DO - 10.1001/archneur.64.2.225 ID - Chen2007 ER - TY - JOUR AU - Chen, W. J. AU - Wu, Z. Y. AU - Wang, N. AU - Lin, M. T. AU - Murong, S. -. X. PY - 2005 DA - 2005// TI - Quantitative studies on SMN1and carrier testing of spinal muscular atrophy JO - Zhong hua yi xue yi chuan xue za zhi VL - 22 ID - Chen2005 ER - TY - JOUR AU - Chou, L. S. AU - Lyon, E. AU - Wittwer, C. T. PY - 2005 DA - 2005// TI - A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model JO - Am J Clin Pathol VL - 124 UR - https://doi.org/10.1309/BF3MLJN8J527MWQY DO - 10.1309/BF3MLJN8J527MWQY ID - Chou2005 ER - TY - JOUR AU - Lorson, C. L. AU - Hahnen, E. AU - Androphy, E. J. AU - Wirth, B. PY - 1999 DA - 1999// TI - A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy JO - Proc Natl Acad Sci USA VL - 96 UR - https://doi.org/10.1073/pnas.96.11.6307 DO - 10.1073/pnas.96.11.6307 ID - Lorson1999 ER - TY - JOUR AU - Zhou, L. AU - Myers, A. N. AU - Vandersteen, J. G. AU - Wang, L. AU - Wittwer, C. T. PY - 2004 DA - 2004// TI - Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye JO - Clin Chem VL - 50 UR - https://doi.org/10.1373/clinchem.2004.034322 DO - 10.1373/clinchem.2004.034322 ID - Zhou2004 ER - TY - JOUR AU - Wittwer, C. T. AU - Reed, G. H. AU - Gundry, C. N. AU - Vandersteen, J. G. AU - Pryor, R. J. PY - 2003 DA - 2003// TI - High-resolution genotyping by amplicon melting analysis using LCGreen JO - Clin Chem VL - 49 UR - https://doi.org/10.1373/49.6.853 DO - 10.1373/49.6.853 ID - Wittwer2003 ER - TY - STD TI - The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/10/45/prepub UR - http://www.biomedcentral.com/1471-2350/10/45/prepub ID - ref20 ER -