메뉴 건너뛰기




Volumn 15, Issue 1, 2014, Pages

Fragile X protein in newborn dried blood spots

Author keywords

Capture immune assay; CGG repeats; DBS; Dried blood spots; FMR1; FMRP; Fragile X syndrome; Luminex; Newborn screening

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; FMR1 PROTEIN, HUMAN;

EID: 84964314859     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0119-0     Document Type: Article
Times cited : (19)

References (27)
  • 5
    • 70749146022 scopus 로고    scopus 로고
    • Screening and instability of FMR1 alleles in a prospective sample of 24, 449 mother-newborn pairs from the general population
    • Levesque S, Dombrowski C, Morel ML, Rehel R, Cote JS, Bussieres J, Morgan K, Rousseau F: Screening and instability of FMR1 alleles in a prospective sample of 24, 449 mother-newborn pairs from the general population. Clin Genet 2009, 76(6):511-523.
    • (2009) Clin Genet , vol.76 , Issue.6 , pp. 511-523
    • Levesque, S.1    Dombrowski, C.2    Morel, M.L.3    Rehel, R.4    Cote, J.S.5    Bussieres, J.6    Morgan, K.7    Rousseau, F.8
  • 6
    • 42449118477 scopus 로고    scopus 로고
    • Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis
    • Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S: Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol 2008, 111(3):596-601.
    • (2008) Obstet Gynecol , vol.111 , Issue.3 , pp. 596-601
    • Cronister, A.1    Teicher, J.2    Rohlfs, E.M.3    Donnenfeld, A.4    Hallam, S.5
  • 9
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • Kenneson A, Zhang F, Hagedorn CH, Warren ST: Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001, 10(14):1449-1454.
    • (2001) Hum Mol Genet , vol.10 , Issue.14 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 13
    • 9144256646 scopus 로고    scopus 로고
    • Simple DNA extraction method for dried blood spots and comparison of two PCR assays for diagnosis of vertical human immunodeficiency virus type 1 transmission in Rwanda
    • Fischer A, Lejczak C, Lambert C, Servais J, Makombe N, Rusine J, Staub T, Hemmer R, Schneider F, Schmit JC, Arendt V: Simple DNA extraction method for dried blood spots and comparison of two PCR assays for diagnosis of vertical human immunodeficiency virus type 1 transmission in Rwanda. J Clin Microbiol 2004, 42(1):16-20.
    • (2004) J Clin Microbiol , vol.42 , Issue.1 , pp. 16-20
    • Fischer, A.1    Lejczak, C.2    Lambert, C.3    Servais, J.4    Makombe, N.5    Rusine, J.6    Staub, T.7    Hemmer, R.8    Schneider, F.9    Schmit, J.C.10    Arendt, V.11
  • 15
    • 79959234736 scopus 로고    scopus 로고
    • High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses
    • Chen L, Hadd AG, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ: High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med 2011, 13(6):528-538.
    • (2011) Genet Med , vol.13 , Issue.6 , pp. 528-538
    • Chen, L.1    Hadd, A.G.2    Sah, S.3    Houghton, J.F.4    Filipovic-Sadic, S.5    Zhang, W.6    Hagerman, P.J.7    Tassone, F.8    Latham, G.J.9
  • 17
    • 65549096443 scopus 로고    scopus 로고
    • Alterations of peripheral leukocyte count, erythrocyte sedimentation rate, and C-reactive protein in febrile urinary tract infection
    • Naseri M: Alterations of peripheral leukocyte count, erythrocyte sedimentation rate, and C-reactive protein in febrile urinary tract infection. Iran J Kidney Dis 2008, 2(3):137-142.
    • (2008) Iran J Kidney Dis , vol.2 , Issue.3 , pp. 137-142
    • Naseri, M.1
  • 18
    • 78049443760 scopus 로고    scopus 로고
    • Interpreting complete blood counts soon after birth in newborns at risk for sepsis
    • Newman TB, Puopolo KM, Wi S, Draper D, Escobar GJ: Interpreting complete blood counts soon after birth in newborns at risk for sepsis. Pediatrics 2010, 126(5):903-909.
    • (2010) Pediatrics , vol.126 , Issue.5 , pp. 903-909
    • Newman, T.B.1    Puopolo, K.M.2    Wi, S.3    Draper, D.4    Escobar, G.J.5
  • 22
    • 77149143575 scopus 로고    scopus 로고
    • Supporting family adaptation to presymptomatic and "untreatable" conditions in an era of expanded newborn screening
    • Bailey DB Jr, Armstrong FD, Kemper AR, Skinner D, Warren SF: Supporting family adaptation to presymptomatic and "untreatable" conditions in an era of expanded newborn screening. J Pediatr Psychol 2009, 34(6):648-661.
    • (2009) J Pediatr Psychol , vol.34 , Issue.6 , pp. 648-661
    • Bailey, D.B.1    Armstrong, F.D.2    Kemper, A.R.3    Skinner, D.4    Warren, S.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.