THE ASSOCIATION OF DEVELOPMENTAL DELAY AND HYPOTONIA WITH MICRODELETIONS OF CHROMOSOME 17q12

被引:0
|
作者
Wagner, K. Bermudez [1 ]
Slavotinek, A. [1 ]
机构
[1] Univ Calif San Francisco, San Francisco, CA 94143 USA
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
280
引用
收藏
页码:183 / 183
页数:1
相关论文
共 50 条
  • [41] A RARE PVUII RFLP AT THE CRYB1 LOCUS (17Q11.2-]17Q12)
    BARKER, DF
    FAIN, PR
    WRIGHT, EC
    NGUYEN, K
    TSUI, LC
    NUCLEIC ACIDS RESEARCH, 1989, 17 (02) : 826 - 826
  • [42] PATHWAYS INVOLVED IN THE DOWNSTREAM EFFECTS OF CHROMOSOME 17Q12 MICRODELETION SYNDROME: INSIGHTS ON POSSIBLE CAUSES FOR DIFFERENT SYMPTOMS
    Costa, Julieta
    Ehrhart, Friederike
    Candeias, Cristina
    Oliva-Teles, Natalia
    MEDICINE, 2023, 102 (13)
  • [43] A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12
    Yongyong Shi
    Li Li
    Zhibin Hu
    Shuang Li
    Shixuan Wang
    Jihong Liu
    Chen Wu
    Lin He
    Jianfeng Zhou
    Zhiqiang Li
    Ting Hu
    Yile Chen
    Yao Jia
    Shaoshuai Wang
    Li Wu
    Xiaodong Cheng
    Zhijun Yang
    Ru Yang
    Xiong Li
    Kecheng Huang
    Qinghua Zhang
    Hang Zhou
    Fangxu Tang
    Zhilan Chen
    Jian Shen
    Jie Jiang
    Hu Ding
    Hui Xing
    Shulan Zhang
    Pengpeng Qu
    Xiaojie Song
    Zhongqiu Lin
    Dongrui Deng
    Ling Xi
    Weiguo Lv
    Xiaobing Han
    Guangshi Tao
    Lixing Yan
    Zhedong Han
    Zhuang Li
    Xiaoping Miao
    Shandong Pan
    Yuanming Shen
    Hui Wang
    Dan Liu
    Ee Gong
    Zheng Li
    Limei Zhou
    Xiaomei Luan
    Chuping Wang
    Nature Genetics, 2013, 45 : 918 - 922
  • [44] A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12
    Shi, Yongyong
    Li, Li
    Hu, Zhibin
    Li, Shuang
    Wang, Shixuan
    Liu, Jihong
    Wu, Chen
    He, Lin
    Zhou, Jianfeng
    Li, Zhiqiang
    Hu, Ting
    Chen, Yile
    Jia, Yao
    Wang, Shaoshuai
    Wu, Li
    Cheng, Xiaodong
    Yang, Zhijun
    Yang, Ru
    Li, Xiong
    Huang, Kecheng
    Zhang, Qinghua
    Zhou, Hang
    Tang, Fangxu
    Chen, Zhilan
    Shen, Jian
    Jiang, Jie
    Ding, Hu
    Xing, Hui
    Zhang, Shulan
    Qu, Pengpeng
    Song, Xiaojie
    Lin, Zhongqiu
    Deng, Dongrui
    Xi, Ling
    Lv, Weiguo
    Han, Xiaobing
    Tao, Guangshi
    Yan, Lixing
    Han, Zhedong
    Li, Zhuang
    Miao, Xiaoping
    Pan, Shandong
    Shen, Yuanming
    Wang, Hui
    Liu, Dan
    Gong, Ee
    Li, Zheng
    Zhou, Limei
    Luan, Xiaomei
    Wang, Chuping
    NATURE GENETICS, 2013, 45 (08) : 918 - U262
  • [45] Does diabetes mellitus modify the association between 17q12 risk variant and prostate cancer aggressiveness?
    Loeb, Stacy
    Helfand, Brian T.
    Kan, Donghui
    Isaacs, William B.
    Catalona, William J.
    BJU INTERNATIONAL, 2009, 104 (09) : 1200 - 1203
  • [46] A 17q12 chromosomal duplication associated with renal disease and esophageal atresia
    Faguer, Stanislas
    Chassaing, Nicolas
    Bandin, Flavio
    Prouheze, Cathie
    Arveiler, Benoit
    Rooryck, Caroline
    Nogier, Marie-Beatrice
    Chauveau, Dominique
    Calvas, Patrick
    Decramer, Stephane
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (04) : E437 - E440
  • [47] Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series
    Jing, Xiang-Yi
    Huang, Lv-Yin
    Zhen, Li
    Han, Jin
    Li, Dong-Zhi
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2019, 39 (03) : 323 - 327
  • [48] Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
    Cai, Meiying
    Lin, Min
    Guo, Nan
    Fu, Meimei
    Xu, Liangpu
    Lin, Na
    Huang, Hailong
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [49] Incidental finding of autosomal recessive juvenile Parkinson disease-2 in chromosome 17q12 microduplication female infant
    Shad, Zohra
    Sharpe, David
    Hussain, Nejmun
    Henry, MaryBeth
    Webb, Dawn
    McNamara, Kristi
    GENETICS IN MEDICINE, 2022, 24 (03) : S153 - S153
  • [50] 17q12 Microdeletion Syndrome: Three Patients Illustrating the Phenotypic Spectrum
    Dixit, Abhijit
    Patel, Chirag
    Harrison, Rachel
    Jarvis, Joanna
    Hulton, Sally
    Smith, Nigel
    Yates, Katherine
    Silcock, Lee
    McMullan, Dominic J.
    Suri, Mohnish
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (09) : 2317 - 2321