Efficiency of high-throughput sequencing in the diagnosis of genetic causes of cerebral palsy

被引:0
|
作者
Udalova, V. [1 ]
Kanivets, I. [1 ]
Pyankov, D. [1 ]
Komarkov, I. [1 ]
Gorgishely, K. [1 ]
Korostelev, S. [1 ,2 ]
机构
[1] LLC GENOMED, Moscow, Russia
[2] Sechenov Univ, Minist Hlth Russian Federat, Fed State Autonomous Educ Inst Higher Educ, IM Sechenov First Moscow State Med Univ, Moscow, Russia
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P10.06.A
引用
收藏
页码:426 / 426
页数:1
相关论文
共 50 条
  • [1] High-throughput Sequencing in genetic-based Diagnosis of Patients with CTCL
    Cieslak, C.
    Stranzenbach, R.
    Hain, C.
    Mentz, A.
    Kalinowski, J.
    Stadler, R.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2018, 16 : 16 - 16
  • [2] High-Throughput Sequencing and Rare Genetic Diseases
    Makrythanasis, P.
    Antonarakis, S. E.
    MOLECULAR SYNDROMOLOGY, 2012, 3 (05) : 197 - 203
  • [3] OUTCOMES OF ADDING HIGH-THROUGHPUT GENETIC SEQUENCING IN THE DIAGNOSIS OF ADULT CYSTIC FIBROSIS
    Kalra, S.
    Iezzi, S.
    Cretella, K.
    Scharfe, C.
    Koff, J.
    PEDIATRIC PULMONOLOGY, 2019, 54 : S245 - S245
  • [4] Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
    De Cario, Rosina
    Kura, Ada
    Suraci, Samuele
    Magi, Alberto
    Volta, Andrea
    Marcucci, Rossella
    Gori, Anna Maria
    Pepe, Guglielmina
    Giusti, Betti
    Sticchi, Elena
    FRONTIERS IN GENETICS, 2020, 11
  • [5] Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
    Bastida, Jose M.
    Lozano, Maria L.
    Benito, Rocio
    Janusz, Kamila
    Palma-Barqueros, Veronica
    Del Rey, Monica
    Hernandez-Sanchez, Jesus M.
    Riesco, Susana
    Bermejo, Nuria
    Gonzalez-Garcia, Hermenegildo
    Rodriguez-Alen, Agustin
    Aguilar, Carlos
    Sevivas, Teresa
    Lopez-Fernandez, Maria F.
    Marneth, Anna E.
    van der Reijden, Bert A.
    Morgan, Neil V.
    Watson, Steve P.
    Vicente, Vicente
    Hernandez-Rivas, Jesus M.
    Rivera, Jose
    Gonzalez-Porras, Jose R.
    HAEMATOLOGICA, 2018, 103 (01) : 148 - 162
  • [6] High-throughput sequencing to decipher the genetic heterogeneity of deafness
    Brownstein, Zippora
    Bhonker, Yoni
    Avraham, Karen B.
    GENOME BIOLOGY, 2012, 13 (05):
  • [7] High-throughput sequencing to decipher the genetic heterogeneity of deafness
    Zippora Brownstein
    Yoni Bhonker
    Karen B Avraham
    Genome Biology, 13
  • [8] Noninvasive prenatal diagnosis empowered by high-throughput sequencing
    Chiu, Rossa W. K.
    Lo, Y. M. Dennis
    PRENATAL DIAGNOSIS, 2012, 32 (04) : 401 - 406
  • [9] Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia
    Wang, Qi
    Cao, Lijuan
    Sheng, Guangying
    Shen, Hongjie
    Ling, Jing
    Xie, Jundan
    Ma, Zhenni
    Yin, Jie
    Wang, Zhaoyue
    Yu, Ziqiang
    Chen, Suning
    Zhao, Yiming
    Ruan, Changgeng
    Xia, Lijun
    Jiang, Miao
    CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS, 2018, 24 : 94S - 103S
  • [10] Genetic Causes and Biological Pathways Elucidated by Exome Sequencing in Patients with Cerebral Palsy
    Srivastava, S.
    Chopra, M.
    Gable, D.
    Poduri, A.
    ANNALS OF NEUROLOGY, 2022, 92 : S110 - S110