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
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
  • [21] Rare variants in the promoter of the fragile X syndrome gene (FMR1)
    Milà, M
    Castellví-Bel, S
    Sánchez, A
    Barceló, A
    Badenas, C
    Mallolas, J
    Estivill, X
    MOLECULAR AND CELLULAR PROBES, 2000, 14 (02) : 115 - 119
  • [22] FRAGILE X SYNDROME DUE TO A RARE FMR1 SEQUENCE VARIANT
    Keehan, L.
    Hale, C.
    Fisk, D. G.
    Dykzeul, N.
    Scott, S. A.
    Tise, C. G.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2024, 72 (01) : 487 - 487
  • [23] Fragile X Syndrome resulting from a deletion of the FMR1 gene
    Moore, S
    Dean, JCS
    Cole, GF
    Hamilton, L
    Kelly, KF
    Strain, L
    Warner, J
    JOURNAL OF MEDICAL GENETICS, 1997, 34 : 541 - 541
  • [24] In vitro reactivation of the FMR1 gene involved in fragile X syndrome
    Chiurazzi, P
    Pomponi, MG
    Willemsen, R
    Oostra, BA
    Neri, G
    HUMAN MOLECULAR GENETICS, 1998, 7 (01) : 109 - 113
  • [25] Pharmacological reactivation of the FMR1 gene of the fragile X syndrome.
    Neri, G
    Pomponi, MG
    Pietrobono, R
    Chiurazzi, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 372 - 372
  • [26] Fragile X syndrome phenotype with normal FMR1 gene studies
    Clarke, NF
    Mowat, D
    Kooy, RF
    Reyniers, E
    Willemsen, R
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (03) : 326 - 328
  • [27] Assessing the FMR1 Locus in Fragile X Syndrome Using a Novel PCR and Fragment Sizing Assay
    Lebel, K. A.
    Tyropolis, A. M.
    Bentley, H. A.
    Tsongalis, G. J.
    Pflueger, S. M.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2010, 12 (06): : 859 - 859
  • [28] Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription
    Kumari, Daman
    Usdin, Karen
    HUMAN MOLECULAR GENETICS, 2014, 23 (24) : 6575 - 6583
  • [29] Variation of histone acetylation/methylation in the FMR1 gene of the fragile X syndrome following pharmacological reactivation.
    Tabolacci, E
    Pietrobono, R
    Chiurazzi, P
    Neri, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 348 - 348
  • [30] Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
    Alisch, Reid S.
    Wang, Tao
    Chopra, Pankaj
    Visootsak, Jeannie
    Conneely, Karen N.
    Warren, Stephen T.
    BMC MEDICAL GENETICS, 2013, 14