MECP2 mutation in one of Rett's original patients

被引:2
|
作者
Freilinger, M. [3 ]
Berndt, A. [4 ]
Haas, O. A. [1 ,2 ]
机构
[1] St Anna Childrens Hosp, A-1090 Vienna, Austria
[2] Medgen At GmbH, Vienna, Austria
[3] Med Univ Vienna, Div Gen Pediat & Neonatol, Dept Pediat & Adolescent Med, Vienna, Austria
[4] Labdia GmbH, Vienna, Austria
关键词
D O I
10.1136/jmg.2008.063636
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
下载
收藏
页码:647 / 648
页数:4
相关论文
共 50 条
  • [41] A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1
    Chunshu, Y.
    Endoh, K.
    Soutome, M.
    Kawamura, R.
    Kubota, T.
    CLINICAL GENETICS, 2006, 70 (06) : 530 - 531
  • [42] DHPLC analysis of the MECP2 gene in Italian Rett patients
    Nicolao, P
    Carella, M
    Giometto, B
    Tavolato, B
    Cattin, R
    Giovannucci-Uzielli, ML
    Vacca, M
    Della Regione, F
    Piva, S
    Bortoluzzi, S
    Gasparini, P
    HUMAN MUTATION, 2001, 18 (02) : 132 - 140
  • [43] Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    Meral Topçu
    Cemaliye Akyerli
    Ayça Sayı
    Gökçe A Törüner
    Süha R Koçoğlu
    Mine Cimbiş
    Tayfun Özçelik
    European Journal of Human Genetics, 2002, 10 : 77 - 81
  • [44] Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation
    Hammer, S
    Dorrani, N
    Hartiala, J
    Stein, S
    Schanen, NC
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (03) : 223 - 226
  • [45] Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
    Marcella Vacca
    Francesco Filippini
    Alberta Budillon
    Valeria Rossi
    Grazia Mercadante
    Elisa Manzati
    Francesca Gualandi
    Stefania Bigoni
    Cecilia Trabanelli
    Giorgio Pini
    Elisa Calzolari
    Alessandra Ferlini
    Ilaria Meloni
    Giuseppe Hayek
    Michele Zappella
    Alessandra Renieri
    Michele D'Urso
    Maurizio D'Esposito
    Fiona MacDonald
    Alison Kerr
    Seema Dhanjal
    Maj Hultén
    Journal of Molecular Medicine, 2001, 78 : 648 - 655
  • [46] People with MECP2 mutation-positive Rett disorder who converse
    Kerr, AM
    Archer, HL
    Evans, JC
    Prescott, RJ
    Gibbon, F
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2006, 50 : 386 - 394
  • [47] Another patient with MECP2 mutation without classic Rett syndrome phenotype
    Milani, D
    Pantaleoni, C
    D'Arrigo, S
    Selicorni, A
    Riva, D
    PEDIATRIC NEUROLOGY, 2005, 32 (05) : 355 - 357
  • [48] Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
    Vacca, M
    Filippini, F
    Budillon, A
    Rossi, V
    Mercadante, G
    Manzati, E
    Gualandi, F
    Bigoni, S
    Trabanelli, C
    Pini, G
    Calzolari, E
    Ferlini, A
    Meloni, I
    Hayek, G
    Zappella, M
    Renieri, A
    D'Urso, M
    D'Esposito, M
    MacDonald, F
    Kerr, A
    Dhanjal, S
    Hultén, M
    JOURNAL OF MOLECULAR MEDICINE-JMM, 2001, 78 (11): : 648 - +
  • [49] Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    Topçu, M
    Akyerli, C
    Sayi, A
    Törüner, GA
    Koçoglu, SR
    Cimbis, M
    Özçelik, T
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (01) : 77 - 81
  • [50] Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
    Armstrong, J
    Póo, P
    Pineda, M
    Aibar, E
    Geán, E
    Català, V
    Monrós, E
    ANNALS OF NEUROLOGY, 2001, 50 (05) : 692 - 692