Clinical relevance of postzygotic mosaicism in Cornelia de Lange Syndrome

被引:0
|
作者
Latorre-Pellicer, Ana [1 ]
Gil-Salvador, Marta [1 ]
Lucia-Campos, Cristina [1 ]
Antonanzas-Perez, Rebeca [1 ]
Trujillano, Laura [2 ]
Arnedo, Maria [1 ]
Parenti, Ilaria [3 ]
Gomez-Puertas, Paulino [4 ]
Puisac, Beatriz [1 ]
Kaiser, Frank J. [5 ,6 ]
Ramos, Feliciano J. [1 ,2 ]
Pie, Juan [1 ]
机构
[1] Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom, Zaragoza, Spain
[2] Univ Hosp Lozano Blesa, Clin Genet Unit, Serv Paediat, Zaragoza, Spain
[3] IST Austria, Klosterneuburg, Austria
[4] Mol Modelling Grp, Ctr Biol Mol Sev Ochoa, CBMSO CSIC UAM, Madrid, Spain
[5] Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany
[6] Univ Lubeck, Inst Human Genet, Sect Funct Genet, Lubeck, Germany
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
P11.035.A
引用
收藏
页码:334 / 335
页数:2
相关论文
共 50 条
  • [21] CORNELIA DE LANGE SYNDROME
    MACDONALD, DM
    GREAVES, M
    BRITISH JOURNAL OF DERMATOLOGY, 1976, 95 : 37 - 39
  • [22] Cornelia de Lange Syndrome
    Liu, Jinglan
    Baynam, Gareth
    DISEASES OF DNA REPAIR, 2010, 685 : 111 - 123
  • [23] Cornelia de Lange syndrome
    FitzPatrick, David R.
    CURRENT OPINION IN BIOTECHNOLOGY, 2011, 22 : S21 - S21
  • [24] Cornelia de Lange Syndrome
    Deschamps, Gabrielle N.
    NEONATAL NETWORK, 2022, 41 (03): : 145 - 149
  • [25] CORNELIA DE LANGE SYNDROME
    VALL, J
    MEDICAL JOURNAL OF AUSTRALIA, 1978, 1 (06) : 335 - 335
  • [26] CORNELIA DE LANGE SYNDROME - CLINICAL AND CYTOGENETIC INTERPRETATIONS
    PAYNE, HW
    MAEDA, WK
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 1965, 93 (11) : 577 - &
  • [27] Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
    Niu, Dau-Ming
    Huang, Jing-Ying
    Li, Hsin-Yang
    Liu, Kai-Ming
    Wang, Shih-Ting
    Chen, Yann-Jang
    Udaka, Torn
    Izumi, Kosuke
    Kosaki, Kenjiro
    PRENATAL DIAGNOSIS, 2006, 26 (11) : 1054 - 1057
  • [28] Clinical utility gene card for: Cornelia de Lange syndrome
    Feliciano J Ramos
    Beatriz Puisac
    Carolina Baquero-Montoya
    Ma Concepción Gil-Rodríguez
    Inés Bueno
    Matthew A Deardorff
    Raoul C Hennekam
    Frank J Kaiser
    Ian D Krantz
    Antonio Musio
    Angelo Selicorni
    David R FitzPatrick
    Juan Pié
    European Journal of Human Genetics, 2015, 23 : 1431 - 1431
  • [29] Neonatal cornelia de Lange syndrome
    de la Cuesta-Martín, CR
    Abio-Albero, S
    García-Bodega, O
    Rite-Gracia, S
    López-Pisón, J
    Vera-Cristóbal, F
    Marco-Tello, A
    Rebage, V
    REVISTA DE NEUROLOGIA, 2004, 38 (11) : 1027 - 1031
  • [30] CORNELIA-DE-LANGE-SYNDROME
    WINTER, RM
    JOURNAL OF MEDICAL GENETICS, 1986, 23 (02) : 188 - 188