Development of a rapid protocol for molecular diagnosis of spinal muscular atrophy in preimplantation genetic diagnosis by whole genome amplification and pyrosequencing.

被引：0
|
作者：
Schneider, R. J. [1 ]
Lau, E. [1 ]
Schur, B. [1 ]
Wong, S. [1 ]
Bick, D. [1 ]
机构：
[1] Med Coll Wisconsin, Milwaukee, WI 53226 USA
来源：
CLINICAL CHEMISTRY | 2007年 / 53卷 / 06期
关键词：
D O I：
暂无
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
C-158
引用
收藏
页码：A152 / A153
页数：2
相关论文
共 50 条
  • [41] Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification
    Ren, Zi
    Zeng, Hai-tao
    Xu, Yan-Wen
    Zhuang, Guang-lun
    Deng, Jie
    Zhang, Cheng
    Zhou, Can-quan
    FERTILITY AND STERILITY, 2009, 91 (02) : 359 - 364
  • [42] Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography
    ZHU Hai-yan
    中华医学杂志(英文版), 2006, (14) : 1222 - 1225
  • [43] A generic approach to preimplantation genetic diagnosis (PGD) using haplotype analysis following whole genome amplification
    Trussler, J
    Ogilvie, CM
    Abbs, S
    Renwick, P
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S105 - S105
  • [44] The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy
    Linjun Chen
    Zhenyu Diao
    Zhipeng Xu
    Jianjun Zhou
    Wanjun Wang
    Jie Li
    Guijun Yan
    Haixiang Sun
    Journal of Assisted Reproduction and Genetics, 2016, 33 : 1459 - 1466
  • [45] The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy
    Chen, Linjun
    Diao, Zhenyu
    Xu, Zhipeng
    Zhou, Jianjun
    Wang, Wanjun
    Li, Jie
    Yan, Guijun
    Sun, Haixiang
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2016, 33 (11) : 1459 - 1466
  • [46] Molecular diagnosis of spinal muscular atrophy patients in Saudi Arabia
    Majumdar, R
    Al Jumah, M
    Al Rajeh, S
    Rehana, Z
    Al Uthaim, S
    Chaves-Carballo, E
    Salih, MM
    Sahawan, S
    Awada, A
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 737 - 737
  • [47] Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
    Babic, Marija
    Banovic, Maria
    Berecic, Ivana
    Banic, Tea
    Babic Leko, Mirjana
    Ulamec, Monika
    Junakovic, Alisa
    Kopic, Janja
    Sertic, Jadranka
    Barisic, Nina
    Simic, Goran
    JOURNAL OF CLINICAL MEDICINE, 2023, 12 (15)
  • [48] Molecular diagnosis of 106 Portuguese families with Spinal Muscular Atrophy
    Jorge, P
    Rodrigues, ML
    Rocha, H
    Fortuna, M
    dos Santos, MR
    NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 647 - 647
  • [49] Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy
    Ravard-Goulvestre, C
    Boucly, C
    Mathieu, B
    Van Amerongen, G
    Viollet, L
    Estournet, B
    Barois, A
    de Mazancourt, P
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 1999, 37 (02) : 133 - 135
  • [50] Extending the possibilities in preimplantation genetic diagnosis - the first clinical case using whole genome amplification with haplotype analysis
    Renwick, P.
    Trussler, J.
    Fassihi, H.
    Lashwood, A.
    Braude, P.
    Ogilvie, C. Mackie
    Abbs, S.
    HUMAN REPRODUCTION, 2006, 21 : I200 - I201
12345