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
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
  • [1] De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity
    Jaime Vengoechea
    Aditi S Parikh
    Shulin Zhang
    Flora Tassone
    European Journal of Human Genetics, 2012, 20 : 1197 - 1200
  • [2] De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity
    Vengoechea, Jaime
    Parikh, Aditi S.
    Zhang, Shulin
    Tassone, Flora
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (11) : 1197 - 1200
  • [3] AN EXTENSIVE DE-NOVO DELETION REMOVING FMR1 IN A PATIENT WITH MENTAL-RETARDATION AND THE FRAGILE X-SYNDROME PHENOTYPE
    TARLETON, J
    RICHIE, R
    SCHWARTZ, C
    RAO, K
    AYLSWORTH, AS
    LACHIEWICZ, A
    HUMAN MOLECULAR GENETICS, 1993, 2 (11) : 1973 - 1974
  • [4] A de novo mutation in FMR1 in a patient with intellectual disability
    Maddirevula, Sateesh
    Alsaif, Hessa S.
    Ibrahim, Niema
    Alkuraya, Fowzan S.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (03)
  • [5] Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene
    Petek, E
    Kroisel, PM
    Schuster, M
    Zierler, H
    Wagner, K
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 84 (03): : 229 - 232
  • [6] Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation
    Wheeler, Anne C.
    Gwaltney, Angela
    Raspa, Melissa
    Okoniewski, Katherine C.
    Berry-Kravis, Elizabeth
    Botteron, Kelly N.
    Budimirovic, Dejan
    Hazlett, Heather Cody
    Hessl, David
    Losh, Molly
    Martin, Gary E.
    Rivera, Susan M.
    Roberts, Jane E.
    Bailey, Donald B.
    PEDIATRICS, 2021, 147 (05)
  • [7] De novo Deletion of 1q31.1-q32.1 in a Patient with Developmental Delay and Behavioral Disorders
    Milani, D.
    Bedeschi, M. F.
    Iascone, M.
    Chiarelli, G.
    Cerutti, M.
    Menni, F.
    CYTOGENETIC AND GENOME RESEARCH, 2012, 136 (03) : 167 - 170
  • [8] De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation
    Budisteanu, Magdalena
    Papuc, Sorina M.
    Tutulan-Cunita, Andreea C.
    Budisteanu, Bogdan
    Weis, Eva
    Arghir, Aurora
    Zechner, Ulrich
    Bartsch, Oliver
    CLINICAL DYSMORPHOLOGY, 2017, 26 (03) : 187 - 189
  • [9] Fragile X syndrome with FMR1 and FMR2 deletion
    Moore, SJ
    Strain, L
    Cole, GF
    Miedzybrodzka, Z
    Kelly, KF
    Dean, JCS
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (07) : 565 - 566
  • [10] Mosaicism for FMR1 and FMR2 deletion:: a new case
    Fengler, S
    Fuchs, S
    König, R
    Arnemann, J
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (03) : 200 - 201