WHOLE-EXOME SEQUENCING IDENTIFIES NOVEL HOMOZYGOUS MUTATION IN NPAS2 IN FAMILY WITH NONOBSTRUCTIVE AZOOSPERMIA

被引:0
|
作者
Ramasamy, Ranjith
Bakircioglu, Emre
Cengiz, Cenk
Karaca, Ender
Scovell, Jason
Bainbridge, Matthew
Lupski, James
Lamb, Dolores
机构
来源
JOURNAL OF UROLOGY | 2015年 / 193卷 / 04期
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
MP76-06
引用
收藏
页码:E985 / E986
页数:2
相关论文
共 50 条
  • [21] Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
    Dinckan, N.
    Du, R.
    Petty, L. E.
    Coban-Akdemir, Z.
    Jhangiani, S. N.
    Paine, I.
    Baugh, E. H.
    Erdem, A. P.
    Kayserili, H.
    Doddapaneni, H.
    Hu, J.
    Muzny, D. M.
    Boerwinkle, E.
    Gibbs, R. A.
    Lupski, J. R.
    Uyguner, Z. O.
    Below, J. E.
    Letra, A.
    JOURNAL OF DENTAL RESEARCH, 2018, 97 (01) : 49 - 59
  • [22] Whole-Exome Sequencing Identifies Novel Heterozygous Mutation in RAF1 in Family With Neonatal Testicular Torsion REPLY
    Kohn, Taylor P.
    Lopategui, Diana M.
    Arora, Himanshu
    Griswold, Anthony J.
    Ramasamy, Ranjith
    UROLOGY, 2019, 129 : 67 - 67
  • [23] Whole-Exome Sequencing Identifies a Novel Mutation of DNAI1 in Primary Ciliary Dyskinesia From a Chinese Family
    Guo, Ting
    Luo, Hong
    CHEST, 2016, 149 (04) : 248A - 248A
  • [24] Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa
    Li, Lin
    Sha, Yanwei
    Wang, Xi
    Li, Ping
    Wang, Jing
    Kee, Kehkooi
    Wang, Binbin
    ONCOTARGET, 2017, 8 (12) : 19914 - 19922
  • [25] Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing
    Qin, Y.
    Liu, F.
    Yu, S.
    Yang, L.
    Gao, M.
    Tang, Z.
    Guo, A. Y.
    Zhang, M.
    Li, P.
    Liu, M.
    EYE, 2017, 31 (05) : 815 - 817
  • [26] Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing
    Y Qin
    F Liu
    S Yu
    L Yang
    M Gao
    Z Tang
    A Y Guo
    M Zhang
    P Li
    M Liu
    Eye, 2017, 31 : 815 - 817
  • [27] Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa
    Liu, Sanmei
    Xie, Lan
    Yue, Jun
    Ma, Tao
    Peng, Chunyan
    Qiu, Biyuan
    Yang, Zhenglin
    Yang, Jiyun
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2016, 37 (06) : 1528 - 1534
  • [28] Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
    Hannah-Shmouni, Fady
    MacNeil, Lauren
    Lara-Corrales, Irene
    Pope, Elena
    Kannu, Peter
    Sondheimer, Neal
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2019, 21
  • [29] Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS
    Liu, Qing
    Shu, Shi
    Wang, Rong Rong
    Liu, Fang
    Cui, Bo
    Guo, Xia Nan
    Lu, Chao Xia
    Li, Xiao Guang
    Liu, Ming Sheng
    Peng, Bin
    Cui, Li-Ying
    Zhang, Xue
    NEUROLOGY, 2016, 87 (17) : 1763 - 1769
  • [30] Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome
    Wang, Wendi
    Wang, Jian
    Wang, Jingjing
    Liu, Jingting
    Pei, Jianying
    Li, Wanyi
    Wang, Yanxia
    Banerjee, Santasree
    Xu, Ruifeng
    Meng, Zhaoyan
    Yi, Bin
    ALLERGOLOGIA ET IMMUNOPATHOLOGIA, 2022, 50 (06) : 32 - 46