AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY 43-NOT ALWAYS DE NOVO.

被引:0
|
作者
Abreu, Maria [1 ]
Figueiroa, Sonia [2 ]
Cerqueira, Rita [3 ]
Basto, Jorge Pinto [3 ]
Fortuna, Ana Maria [1 ,4 ]
Reis, Claudia Falcao [5 ,6 ,7 ]
机构
[1] Ctr Hosp Univ Porto CHUP, Med Genet Dept, Ctr Genet Med Jacinto de Magalhaaes CGMJM, Porto, Portugal
[2] Ctr Hosp Univ Porto, Div Pediat Neurol, Dept Child & Adolescent, Porto, Portugal
[3] Unilabs, Lab Diagnost Mol & Genom Clin, CGC Genet, Porto, Portugal
[4] Inst Ciencias Biomed Abel Salazar, Unit Multidisciplinary Res Biomed UMIB, Porto, Portugal
[5] CHP, Med Genet Dept, CGMJM, Porto, Portugal
[6] Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, Braga, Portugal
[7] ICVS 3Bs PT Govt Associate Lab, Braga, Portugal
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P54
引用
收藏
页数:1
相关论文
共 50 条
  • [1] Autosomal dominant intellectual disability
    Wieczorek, Dagmar
    MEDIZINISCHE GENETIK, 2018, 30 (03): : 318 - 322
  • [2] De novo diagnostics of patients with intellectual disability
    Joris A Veltman
    BMC Proceedings, 6 (Suppl 6)
  • [3] De Novo Autosomal Dominant Mutation in SYNGAP1
    Cook, Edwin H., Jr.
    AUTISM RESEARCH, 2011, 4 (02) : 155 - 156
  • [4] De Novo Mutations in Moderate or Severe Intellectual Disability
    Hamdan, Fadi F.
    Srour, Myriam
    Capo-Chichi, Jose-Mario
    Daoud, Hussein
    Nassif, Christina
    Patry, Lysanne
    Massicotte, Christine
    Ambalavanan, Amirthagowri
    Spiegelman, Dan
    Diallo, Ousmane
    Henrion, Edouard
    Dionne-Laporte, Alexandre
    Fougerat, Anne
    Pshezhetsky, Alexey V.
    Venkateswaran, Sunita
    Rouleau, Guy A.
    Michaud, Jacques L.
    PLOS GENETICS, 2014, 10 (10):
  • [5] Regulatory de novo mutations underlying intellectual disability
    Vas, Matias G. De
    Boulet, Fanny
    Joshi, Shweta S.
    Garstang, Myles G.
    Khan, Tahir N.
    Atla, Goutham
    Parry, David
    Moore, David
    Cebola, Ines
    Zhang, Shuchen
    Cui, Wei
    Lampe, Anne K.
    Lam, Wayne W.
    Ferrer, Jorge
    Pradeepa, Madapura M.
    Atanur, Santosh S.
    LIFE SCIENCE ALLIANCE, 2023, 6 (05)
  • [6] A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review
    Yang, Fan
    Ding, Yu
    Wang, Yirou
    Zhang, Qingwen
    Li, Hao
    Yu, Tingting
    Chang, Guoying
    Wang, Xiumin
    MEDICINE, 2024, 103 (02) : E35908
  • [7] Involvement of FMN2 in nonsyndromic autosomal-dominant intellectual disability
    Babikyan, D. T.
    Midyan, S.
    Hovhannisyan, A.
    Sargsyan, T.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1391 - 1391
  • [8] A novel de novo POGZ mutation in a patient with intellectual disability
    Bo Tan
    Yongyi Zou
    Yue Zhang
    Rui Zhang
    Jianjun Ou
    Yidong Shen
    Jingping Zhao
    Xiaomei Luo
    Jing Guo
    Lanlan Zeng
    Yiqiao Hu
    Yu Zheng
    Qian Pan
    Desheng Liang
    Lingqian Wu
    Journal of Human Genetics, 2016, 61 : 357 - 359
  • [9] A novel de novo POGZ mutation in a patient with intellectual disability
    Tan, Bo
    Zou, Yongyi
    Zhang, Yue
    Zhang, Rui
    Ou, Jianjun
    Shen, Yidong
    Zhao, Jingping
    Luo, Xiaomei
    Guo, Jing
    Zeng, Lanlan
    Hu, Yiqiao
    Zheng, Yu
    Pan, Qian
    Liang, Desheng
    Wu, Lingqian
    JOURNAL OF HUMAN GENETICS, 2016, 61 (04) : 357 - 359