PRECISION FMR1 METHYLATION ASSAY IN FRAGILE X SYNDROME

被引：0
|
作者：
Erickson, Craig [1 ]
Schmitt, Lauren [1 ]
Pilito, Sebastian [1 ]
Cullion, Kyle [1 ]
Horn, Paul [1 ]
Shanahan, Matilyn [1 ]
Gross, Christina [1 ]
机构：
[1] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA
来源：
NEUROPSYCHOPHARMACOLOGY | 2024年 / 49卷
关键词：
fragile X syndrome; CpG Methylation; Molecular Genetics;
D O I：
暂无
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
P459
引用
收藏
页码：325 / 325
页数：1
相关论文
共 50 条
  • [1] A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome
    Dahl, Christina
    Gronskov, Karen
    Larsen, Lars A.
    Guldberg, Per
    Brondum-Nielsen, Karen
    CLINICAL CHEMISTRY, 2007, 53 (04) : 790 - 793
  • [2] An assay for X inactivation based on differential methylation at the fragile X locus, FMR1
    Carrel, L
    Willard, HF
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 64 (01): : 27 - 30
  • [3] FMR1 gene and fragile X syndrome
    Bardoni, B
    Mandel, JL
    Fisch, GS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 97 (02): : 153 - 163
  • [4] Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
    Liu, X. Shawn
    Wu, Hao
    Krzisch, Marine
    Wu, Xuebing
    Graef, John
    Muffat, Julien
    Hnisz, Denes
    Li, Charles H.
    Yuan, Bingbing
    Xu, Chuanyun
    Li, Yun
    Vershkov, Dan
    Cacace, Angela
    Young, Richard A.
    Jaenisch, Rudolf
    CELL, 2018, 172 (05) : 979 - +
  • [5] DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
    Nobile, Veronica
    Pucci, Cecilia
    Chiurazzi, Pietro
    Neri, Giovanni
    Tabolacci, Elisabetta
    BIOMOLECULES, 2021, 11 (02) : 1 - 17
  • [6] 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
  • [7] Fragile X syndrome and FMR1 associated disorders
    Tassone, F.
    FEBS JOURNAL, 2012, 279 : 38 - 38
  • [8] Finding FMR1 mosaicism in Fragile X syndrome
    Goncalves, Thais Fernandez
    dos Santos, Jussara Mendonca
    Goncalves, Andressa Pereira
    Tassone, Flora
    Mendoza-Morales, Guadalupe
    Ribeiro, Marcia Goncalves
    Kahn, Evelyn
    Boy, Raquel
    Goncalves Pimentel, Marcia Mattos
    Santos-Reboucas, Cintia Barros
    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2016, 16 (04) : 501 - 507
  • [9] Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay
    Daly, TM
    Rafii, A
    Martin, RA
    Zehnbauer, BA
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2000, 2 (03): : 128 - 131
  • [10] Epigenetic mechanism of FMR1 inactivation in Fragile X syndrome
    Hecht, Merav
    Tabib, Amalia
    Kahan, Tamar
    Orlanski, Shari
    Gropp, Michal
    Tabach, Yuval
    Yanuka, Ofra
    Benvenisty, Nissim
    Keshet, Ilana
    Cedar, Howard
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY, 2017, 61 (3-5): : 285 - 292
12345