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
  • [31] Epilepsy in patients with Cornelia de Lange syndrome: A clinical series
    Verrotti, Alberto
    Agostinelli, Sergio
    Prezioso, Giovanni
    Coppola, Giangennaro
    Capovilla, Giuseppe
    Romeo, Antonino
    Striano, Pasquale
    Parisi, Pasquale
    Grosso, Salvatore
    Spalice, Alberto
    Foiadelli, Thomas
    Curatolo, Paolo
    Chiarelli, Francesco
    Savasta, Salvatore
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2013, 22 (05): : 356 - 359
  • [32] Clinical utility gene card for: Cornelia de Lange syndrome
    Ramos, Feliciano J.
    Puisac, Beatriz
    Baquero-Montoya, Carolina
    Concepcion Gil-Rodriguez, Ma
    Bueno, Ines
    Deardorff, Matthew A.
    Hennekam, Raoul C.
    Kaiser, Frank J.
    Krantz, Ian D.
    Musio, Antonio
    Selicorni, Angelo
    FitzPatrick, David R.
    Pie, Juan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (10) : 1431 - 1431
  • [33] A CASE OF CORNELIA DE LANGE SYNDROME
    SALMI, AM
    HAKULINE.A
    ACTA PAEDIATRICA SCANDINAVICA, 1965, S : 130 - &
  • [34] Insomnia in Cornelia de Lange Syndrome
    Rajan, Roy
    Benke, James R.
    Kline, Antonie D.
    Levy, Howard P.
    Kimball, Amy
    Mettel, Tiffany L.
    Boss, Emily F.
    Ishman, Stacey L.
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2012, 76 (07) : 972 - 975
  • [35] Brain dysgenesis in Cornelia de Lange syndrome
    Yamaguchi, K
    Ishitobi, F
    CLINICAL NEUROPATHOLOGY, 1999, 18 (02) : 99 - 105
  • [36] Ophthalmologic findings in the Cornelia de Lange syndrome
    Wygnanski-Jaffe, T
    Shin, J
    Perruzza, E
    Abdolell, M
    Jackson, LG
    Levin, AV
    JOURNAL OF AAPOS, 2005, 9 (05): : 407 - 415
  • [37] Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations
    Della Giustina, Elvio
    Salviato, Tiziana
    Caramaschi, Stefania
    Fabbiani, Luca
    Bonetti, Luca Reggiani
    FETAL AND PEDIATRIC PATHOLOGY, 2024, 43 (06) : 477 - 486
  • [38] Cornelia de Lange syndrome, cohesin, and beyond
    Liu, J.
    Krantz, I. D.
    CLINICAL GENETICS, 2009, 76 (04) : 303 - 314
  • [39] CORNELIA DE LANGE SYNDROME - RADIOGRAPHIC FINDINGS
    GERALD, B
    UMANSKY, R
    RADIOLOGY, 1967, 88 (01) : 96 - &
  • [40] Sonographic features of Cornelia de Lange syndrome
    Chitty, L
    Pajkrt, E
    Griffin, DR
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S53 - S53