Assessing the FMR1 Locus in Fragile X Syndrome Using a Novel PCR and Fragment Sizing Assay

被引:0
|
作者
Lebel, K. A. [1 ]
Tyropolis, A. M. [1 ]
Bentley, H. A. [2 ,3 ]
Tsongalis, G. J. [2 ,3 ,4 ]
Pflueger, S. M. [1 ]
机构
[1] Baystate Hlth Ctr, Springfield, MA USA
[2] Dartmouth Med Sch, Lebanon, NH USA
[3] Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA
[4] Norris Cotton Canc Ctr, Lebanon, NH USA
来源
JOURNAL OF MOLECULAR DIAGNOSTICS | 2010年 / 12卷 / 06期
关键词
D O I
暂无
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:859 / 859
页数:1
相关论文
共 50 条
  • [1] Diagnosis of the fragile X syndrome in males using methylation-specific PCR of the FMR1 locus
    Pena, SDJ
    Sturzeneker, R
    GENETICS AND MOLECULAR BIOLOGY, 1999, 22 (02) : 169 - 172
  • [2] PRECISION FMR1 METHYLATION ASSAY IN FRAGILE X SYNDROME
    Erickson, Craig
    Schmitt, Lauren
    Pilito, Sebastian
    Cullion, Kyle
    Horn, Paul
    Shanahan, Matilyn
    Gross, Christina
    NEUROPSYCHOPHARMACOLOGY, 2024, 49 : 325 - 325
  • [3] 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
  • [4] FMR1 gene and fragile X syndrome
    Bardoni, B
    Mandel, JL
    Fisch, GS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 97 (02): : 153 - 163
  • [5] 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
  • [6] Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome
    Yudkin, Dmitry
    Hayward, Bruce E.
    Aladjem, Mirit I.
    Kumari, Daman
    Usdin, Karen
    HUMAN MOLECULAR GENETICS, 2014, 23 (11) : 2940 - 2952
  • [7] 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
  • [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] Fragile X syndrome and FMR1 associated disorders
    Tassone, F.
    FEBS JOURNAL, 2012, 279 : 38 - 38
  • [10] 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