Carrier screening for spinal muscular atrophy in Italian population

被引:0
|
作者
FRANCESCO CALÌ
GIUSEPPA RUGGERI
VALERIA CHIAVETTA
CARMELA SCUDERI
SEBASTIANO BIANCA
CHIARA BARONE
ALDA RAGALMUTO
PIETRO SCHINOCCA
GIROLAMO AURELIO VITELLO
VALENTINO ROMANO
SEBASTIANO MUSUMECI
机构
[1] Associazione Oasi Maria SS. (I.R.C.C.S.),Laboratorio di Genetica Molecolare, UOC di Genetica Medica
[2] Associazione Oasi Maria SS. (I.R.C.C.S.),Unità Operativa di Malattie Neuromuscolari
[3] Genetica Medica ARNAS Garibaldi Nesima,Unità Operativa di Neurologia per il Ritardo Mentale
[4] Associazione Oasi Maria SS. (I.R.C.C.S.),Dipartimento di Fisica e Chimica
[5] Università degli Studi di Palermo,undefined
来源
Journal of Genetics | 2014年 / 93卷
关键词
survival motor neuron gene (; ); spinal muscular atrophy; carrier screening; MLPA;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:179 / 181
页数:2
相关论文
共 50 条
  • [1] Carrier screening for spinal muscular atrophy in Italian population
    Cali, Francesco
    Ruggeri, Giuseppa
    Chiavetta, Valeria
    Scuderi, Carmela
    Bianca, Sebastiano
    Barone, Chiara
    Ragalmuto, Alda
    Schinocca, Pietro
    Vitello, Girolamo Aurelio
    Romano, Valentino
    Musumeci, Sebastiano
    JOURNAL OF GENETICS, 2014, 93 (01) : 179 - 181
  • [2] Carrier screening for spinal muscular atrophy
    Prior, Thomas W.
    GENETICS IN MEDICINE, 2008, 10 (11) : 340 - 342
  • [3] Prenatal Carrier Screening for Spinal Muscular Atrophy
    Wood, S. Lindsay
    Brewer, Fallon
    Ellison, Rebecca
    Biggio, Joseph R.
    Edwards, Rodney K.
    AMERICAN JOURNAL OF PERINATOLOGY, 2016, 33 (12) : 1211 - 1217
  • [4] False Negative Carrier Screening in Spinal Muscular Atrophy
    Butcher, Sophie
    Smith, Melanie
    Woodcock, Ian R.
    Delatycki, Martin
    Ryan, Monique M.
    Forbes, Robin
    JOURNAL OF CHILD NEUROLOGY, 2020, 35 (04) : 274 - 277
  • [5] Evaluating the performance of four assays for carrier screening of spinal muscular atrophy
    Tan, Jianxin
    Zhang, Jingjing
    Sun, Ruihong
    Jiang, Zhu
    Wang, Yuguo
    Ma, Dingyuan
    Jiao, Jiao
    Chen, Hao
    Lin, Yingchun
    Zhang, Qinxin
    Xu, Zhengfeng
    Hu, Ping
    CLINICA CHIMICA ACTA, 2023, 548
  • [6] Spinal Muscular Atrophy: Newborn and Carrier Screening
    Prior, Thomas W.
    OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA, 2010, 37 (01) : 23 - +
  • [7] Newborn and Carrier Screening for Spinal Muscular Atrophy
    Prior, Thomas W.
    Snyder, Pamela J.
    Rink, Britton D.
    Pearl, Dennis K.
    Pyatt, Robert E.
    Mihal, David C.
    Conlan, Todd
    Schmalz, Betsy
    Montgomery, Laura
    Ziegler, Katie
    Noonan, Carolee
    Hashimoto, Sayaka
    Garner, Shannon
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (07) : 1608 - 1616
  • [8] A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia
    Al Jumah, Mohammed
    Majumdar, Ramanath
    Rehana, Zahra
    Al Rajeh, Saad
    Eyaid, Wafaa
    JOURNAL OF PEDIATRIC NEUROLOGY, 2007, 5 (03) : 221 - 224
  • [9] Large-scale population screening for spinal muscular atrophy: Clinical implications
    Ben-Shachar, Shay
    Orr-Urtreger, Avi
    Bardugo, Eyal
    Shomrat, Ruth
    Yaron, Yuval
    GENETICS IN MEDICINE, 2011, 13 (02) : 110 - 114
  • [10] Carrier testing for spinal muscular atrophy
    Gitlin, Jonathan M.
    Fischbeck, Kenneth
    Crawford, Thomas O.
    Cwik, Valerie
    Fleischman, Alan
    Gonye, Karla
    Heine, Deborah
    Hobby, Kenneth
    Kaufmann, Petra
    Keiles, Steven
    MacKenzie, Alex
    Musci, Thomas
    Prior, Thomas
    Lloyd-Puryear, Michele
    Sugarman, Elaine A.
    Terry, Sharon F.
    Urv, Tiina
    Wang, Ching
    Watson, Michael
    Yaron, Yuval
    Frosst, Phyllis
    Howell, R. Rodney
    GENETICS IN MEDICINE, 2010, 12 (10) : 621 - 622