Whole Exome Sequencing in Brazilian individuals with intellectual disability, Neurodevelopmental Delay and (or) Multiple Congenital Anomalies with Copy Number Variants of Uncertain Clinical Significance detected by Chromosomal Microarray Analysis

被引：0
|
作者：
Spineli-Silva, S. [1 ]
de Leeuw, N. [2 ]
dos Santos, A. P. [1 ]
Leijsten, N. [2 ]
Ruiterkamp-Versteeg, M. H. A. [2 ]
Prota, J. R. M. [1 ]
Maciel-Guerra, A. T. [1 ]
Marques-de-Faria, A. [1 ]
Steiner, C. E. [1 ]
Gil-da-Silva-Lopes, V. L. [1 ]
Vieira, T. P. [1 ]
机构：
[1] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet & Genom Med, Campinas, SP, Brazil
[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期
基金：
巴西圣保罗研究基金会;
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：
P11.33.C
引用
收藏
页码：463 / 463
页数：1
相关论文
共 24 条
  • [1] Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis
    Correia-Costa, Gabriela Roldao
    Sgardioli, Ilaria Cristina
    dos Santos, Ana Paula
    de Araujo, Tania Kawasaki
    Secolin, Rodrigo
    Lopes-Cendes, Iscia
    Gil-da-Silva-Lopes, Vera Lucia
    Vieira, Tarsis Paiva
    GENETICS AND MOLECULAR BIOLOGY, 2022, 45 (01)
  • [2] Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability
    Kashevarova, A. A.
    Belyaeva, E. O.
    Fonova, E. A.
    Lopatkina, M. E.
    Vasilyeva, O. Y.
    Fedotov, D. A.
    Zarubin, A. A.
    Sivtsev, A. A.
    Demeneva, V. V.
    Salyukova, O. A.
    Petrova, V. V.
    Fadiushina, S. V.
    Minaycheva, L. I.
    Seitova, G. N.
    Nazarenko, L. P.
    Lebedev, I. N.
    EUROPEAN PSYCHIATRY, 2023, 66 : S887 - S887
  • [3] Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability
    Kashevarova, A. A.
    Belyaeva, E. O.
    Fonova, E. A.
    Lopatkina, M. E.
    Vasilyeva, O. Y.
    Fedotov, D. A.
    Zarubin, A. A.
    Sivtsev, A. A.
    Demeneva, V. V.
    Salyukova, O. A.
    Petrova, V. V.
    Fadiushina, S. V.
    Minaycheva, L. I.
    Seitova, G. N.
    Nazarenko, L. P.
    Lebedev, I. N.
    EUROPEAN PSYCHIATRY, 2023, 66 : S887 - S887
  • [4] Incidence and Clinical Significance of Small Copy Number Variants Detected by Chromosomal Microarray Testing
    Farooqi, Midhat S.
    Figueroa, Shirelle
    Gotway, Garrett
    Wang, Jason
    Luu, Hung S.
    Park, Jason Y.
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2015, 143 : A12 - A12
  • [5] Pathogenic Copy Number Variants Associated with Neurodevelopmental Impairment Detected in Chromosomal Microarray Analysis in Neonates with Congenital Heart Defects
    Findley, T. O.
    Crain, A. K.
    Mahajan, S.
    Zavala, Solis A.
    Davis, J.
    Rodriguez-Buritica, D. F.
    BIRTH DEFECTS RESEARCH, 2020, 112 (11): : 827 - 827
  • [6] Report and investigation of regions of homozygosity in the autosomal genome of Brazilian individuals with intellectual disability and (or) multiple congenital anomalies previously investigated by chromosomal microarray analysis
    Correia-Costa, G. R.
    Spineli-Silva, S.
    Sgardioli, I. C.
    dos-Santos, A. P.
    Marques-Prota, J. R.
    Secolin, R.
    Leijsten, N.
    Ruiterkamp-Versteeg, M. H. A.
    de Leeuw, N.
    Lopes-Cendes, I.
    Gil-da-Silva-Lopes, V. L.
    Vieira, T. P.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 927 - 927
  • [7] Application of Whole-Exome Sequencing in for updates Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations
    Zanardo, Evelin A.
    Monteiro, Fabiola P.
    Chehimi, Samar N.
    Oliveira, Yanca G.
    Dias, Alexandre T.
    Costa, Larissa A.
    Ramos, Luiza L.
    Novo-Filho, Gil M.
    Montenegro, Marilia M.
    Nascimento, Amom M.
    Kitajima, Joao P.
    Kok, Fernando
    Kulikowski, Leslie D.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (08): : 1041 - 1049
  • [8] Clinical Characteristics of Children with Neurodevelopmental Delay and Pathogenic Copy Number Variations in Chromosomal Microarray Analysis
    Genc, Hulya Maras
    Demirkol, Yasemin Kendir
    Beklen, Hande
    Dogan, Ozlem Akgun
    Kutlubay, Busra
    Sozen, Hatice Gulhan
    JOURNAL OF CHILD - COCUK DERGISI, 2022, 22 (03): : 151 - 158
  • [9] Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
    Prasad, Aparna
    Sdano, Matthew A.
    Vanzo, Rena J.
    Mowery-Rushton, Patricia A.
    Serrano, Moises A.
    Hensel, Charles H.
    Wassman, E. Robert
    BMC MEDICAL GENETICS, 2018, 19
  • [10] Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population
    Hsu, Rai-Hseng
    Lee, Chen-Hao
    Chien, Yin-Hsiu
    Lin, Shuan-Pei
    Hung, Miao-Zi
    Chen, Nai-Chi
    Lin, Yi-Lin
    Hwu, Wuh-Liang
    Lee, Ni-Chung
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (06):
123