A DE-NOVO DELETION IN FMR1 IN A PATIENT WITH DEVELOPMENTAL DELAY

被引：44
|
作者：
GU, YH
LUGENBEEL, KA
VOCKLEY, JG
GRODY, WW
NELSON, DL
机构：
[1] BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030
[2] UNIV CALIF LOS ANGELES,SCH MED,DIV MED GENET,LOS ANGELES,CA 90024
[3] UNIV CALIF LOS ANGELES,SCH MED,DIV MOLEC PATHOL,LOS ANGELES,CA 90024
来源：
HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 09期
关键词：
D O I：
10.1093/hmg/3.9.1705
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：
引用
收藏
页码：1705 / 1706
页数：2
相关论文
共 50 条
  • [31] DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region of FMR1
    K. Nichol Edamura
    C. E. Pearson
    Human Genetics, 2005, 118 : 301 - 304
  • [32] A MALFORMED GIRL WITH A DE-NOVO PROXIMAL 6Q DELETION
    LONARDO, F
    COLANTUONI, M
    FESTA, B
    GENTILE, G
    GUERRITORE, G
    PERONE, L
    SANTULLI, B
    VENTRUTO, V
    ANNALES DE GENETIQUE, 1988, 31 (01): : 57 - 59
  • [33] The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay
    Mazzocco, MMM
    Myers, GF
    Hamner, JL
    Panoscha, R
    Shapiro, BK
    Reiss, AL
    JOURNAL OF PEDIATRICS, 1998, 132 (05): : 795 - 801
  • [34] De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review
    Liu, Yi
    Zhao, Dongmei
    Dong, Rui
    Yang, Xiaomeng
    Zhang, Yanqing
    Tammimies, Kristiina
    Uddin, Mohammed
    Scherer, Stephen W.
    Gai, Zhongtao
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (06) : 1381 - 1385
  • [35] A sound-driven cortical phase-locking change in the Fmr1 KO mouse requires Fmr1 deletion in a subpopulation of brainstem neurons
    Holley, Andrew J.
    Shedd, Aleya
    Boggs, Anna
    Lovelace, Jonathan
    Erickson, Craig
    Gross, Christina
    Jankovic, Miranda
    Razak, Khaleel
    Huber, Kimberly
    Gibson, Jay R.
    NEUROBIOLOGY OF DISEASE, 2022, 170
  • [36] Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11
    Tanteles, George A.
    Dixit, Abhijit
    Smith, Nigel
    Martin, Kate
    Suri, Mohnish
    CLINICAL DYSMORPHOLOGY, 2011, 20 (02) : 61 - 65
  • [37] A de novo 1.4-Mb Deletion at 21q22.11 in a Boy With Developmental Delay
    Fukai, Ryoko
    Hiraki, Yoko
    Nishimura, Gen
    Nakashima, Mitsuko
    Tsurusaki, Yoshinori
    Saitsu, Hirotomo
    Matsumoto, Naomichi
    Miyake, Noriko
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (04) : 1021 - 1028
  • [38] A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome
    Czeschik, Johanna Christina
    Albrecht, Beate
    Kayserili, Hulya
    Kuechler, Alma
    Wagner, Nicholas
    Wieczorek, Dagmar
    Luedecke, Hermann-Josef
    CLINICAL DYSMORPHOLOGY, 2014, 23 (02) : 67 - 70
  • [39] Audiogenic Seizures in the Fmr1 Knock-Out Mouse Are Induced by Fmr1 Deletion in Subcortical, VGlut2-Expressing Excitatory Neurons and Require Deletion in the Inferior Colliculus
    Gonzalez, Darya
    Tomasek, Madison
    Hays, Seth
    Sridhar, Vinay
    Ammanuel, Simon
    Chang, Chia-wei
    Pawlowski, Karen
    Huber, Kimberly M.
    Gibson, Jay R.
    JOURNAL OF NEUROSCIENCE, 2019, 39 (49): : 9852 - 9863
  • [40] Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay
    Tung, Yiehen
    Lu, Haiying
    Lin, Wenxin
    Huang, Tingting
    Kim, Samuel
    Hu, Guo
    Zhang, Gang
    Zheng, Guo
    FRONTIERS IN GENETICS, 2021, 12
12345