Whole exome sequencing identifies novel genetic variants associated with syndromic Tetralogy of Fallot

被引:0
|
作者
Toth-Szumutku, Fanni [1 ]
Kun, Ilona [1 ]
Lengyel, Anna [1 ]
Pinti, Eva [1 ]
Nemeth, Krisztina [1 ]
Abonyi, Tunde [1 ]
Ryu, Seung Woo [2 ]
Song, Yongjun [2 ]
Kis, Eva [3 ]
Ablonczy, Laszlo [3 ]
Goda, Vera [4 ]
Krivan, Gergely [4 ]
Haltrich, Iren [1 ]
Kovacs, Arpad Ferenc [1 ]
机构
[1] Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary
[2] Billion Inc, Seoul, South Korea
[3] Gottsegen Natl Cardiovascular Ctr, Budapest, Hungary
[4] Natl Inst Hematol & Infect Dis, Cent Hosp Southern Pest, Budapest, Hungary
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
P07.021.A
引用
收藏
页码:1392 / 1392
页数:1
相关论文
共 50 条
  • [21] Exome sequencing identifies genetic variants in anophthalmia and microphthalmia
    Li, Jingjing
    Yang, Wei
    Wang, Yuejun Jessie
    Ma, Chen
    Curry, Cynthia J.
    McGoldrick, Daniel
    Nickerson, Deborah A.
    Chong, Jessica X.
    Blue, Elizabeth E.
    Mullikin, James C.
    Reefhuis, Jennita
    Nembhard, Wendy N.
    Romitti, Paul A.
    Werler, Martha M.
    Browne, Marilyn L.
    Olshan, Andrew F.
    Finnell, Richard H.
    Feldkamp, Marcia L.
    Pangilinan, Faith
    Almli, Lynn M.
    Bamshad, Mike J.
    Brody, Lawrence C.
    Jenkins, Mary M.
    Shaw, Gary M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (08) : 2376 - 2388
  • [22] Detection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis
    Abdullahi, Khalid Mohamoud
    Ali, Ahmed Faisal
    Adan, Mohamed Mohamoud
    Shu, Qiang
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2024, 28 (12) : 474 - 484
  • [23] Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing
    Zhang, Qin-Qin
    Wang, Zi-Hua
    Zhang, Jun-Shi
    Guo, Jun-Nan
    Lin, Xu-Hong
    An, Lei
    JOURNAL OF INTEGRATIVE NEUROSCIENCE, 2021, 20 (02) : 393 - 397
  • [24] Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/ Paraganglioma
    Seo, Soo Hyun
    Kim, Jung Hee
    Kim, Man Jin
    Cho, Sung Im
    Kim, Su Jin
    Kang, Hyein
    Shin, Chan Soo
    Park, Sung Sup
    Lee, Kyu Eun
    Seong, Moon-Woo
    ENDOCRINOLOGY AND METABOLISM, 2020, 35 (04) : 909 - 917
  • [25] Whole-exome sequencing study identifies rare variants associated with intraocular pressure
    Lin, Yizi
    Williams, Kara
    Moroi, Sayoko E.
    Gao, Xiaoyi Raymond
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
  • [26] Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children
    Wu, Fan
    Ji, Xinna
    Shen, Mengxiao
    Cheng, Peidi
    Feng, Shuo
    Gao, Yanyan
    Liu, Wanting
    Chen, Jinxiao
    Li, Shupin
    Zhang, Xue
    Chen, Qian
    GENES & DISEASES, 2025, 12 (02)
  • [27] Whole Exome Sequencing Identifies Novel, Nonsynonymous Variants in a Large Pedigree with Tourette Syndrome
    Sundaram, S. K.
    Hug, A. H. M.
    Sun, Z.
    Wilson, B. J.
    Yu, W.
    Chugani, H. T.
    ANNALS OF NEUROLOGY, 2010, 68 (04) : S131 - S131
  • [28] Whole Exome Sequencing Identifies Damaging Variants in Indonesians with Clefts
    Aladenika, Emmanuel
    Maskoen, Ani
    Awotoye, Waheed
    Abdulaziz, Rasyid
    Alade, Azeez
    Nasroen, Saskia Lenggogeni
    Oladayo, Abimbola
    Busch, Tamara
    Sarilita, Erli
    Butali, Azeez
    CLEFT PALATE CRANIOFACIAL JOURNAL, 2023,
  • [29] Whole-Exome Sequencing Reveals a Novel Mutation of FLNA Gene in an Iranian Family with Nonsyndromic Tetralogy of Fallot
    Kalayinia, Samira
    Maleki, Majid
    Mahdavi, Mohammad
    Mahdieh, Nejat
    LABORATORY MEDICINE, 2021, 52 (06) : 614 - 618
  • [30] Whole-exome sequencing reveals novel genetic variants associated with diverse phenotypes of melanoma cells
    Hartman, Mariusz L.
    Sztiller-Sikorska, Malgorzata
    Czyz, Malgorzata
    MOLECULAR CARCINOGENESIS, 2019, 58 (04) : 588 - 602