메뉴 건너뛰기




Volumn 50, Issue 5, 2009, Pages 529-533

MECP2 mutations in Malaysian Rett syndrome patients

Author keywords

Denaturing high performance liquid chromatography; MECP2 mutation; Methyl CpG binding domain; Mutation analysis; Rett syndrome; Transcriptional repression domain

Indexed keywords

METHYL CPG BINDING PROTEIN 2; MECP2 PROTEIN, HUMAN;

EID: 67149140374     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (22)
  • 1
    • 0014011176 scopus 로고
    • On an unusual brain atrophy syndrome in hyperammonemia in childhood
    • German
    • Rett A. [On an unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr 1966; 116:723-726 German.
    • (1966) Wien Med Wochenschr , vol.116 , pp. 723-726
    • Rett, A.1
  • 2
    • 85013575836 scopus 로고    scopus 로고
    • Neurological, genetic and epigenetic features of Rett syndrome
    • Vorsanova SG, Iourov IY, Yurov YB. Neurological, genetic and epigenetic features of Rett syndrome. J Pediatr Neurol 2004; 2:179-190
    • (2004) J Pediatr Neurol , vol.2 , pp. 179-190
    • Vorsanova, S.G.1    Iourov, I.Y.2    Yurov, Y.B.3
  • 3
    • 0033646567 scopus 로고    scopus 로고
    • Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 Gene: Identification of several novel mutations and polymorphisms
    • Buyse IM, Fang P, Hoon KT, et al. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 Gene: identification of several novel mutations and polymorphisms. Am J Hum Genet 2000; 67:1428-1436
    • (2000) Am J Hum Genet , vol.67 , pp. 1428-1436
    • Buyse, I.M.1    Fang, P.2    Hoon, K.T.3
  • 4
    • 0023888966 scopus 로고
    • Diagnostic criteria for Rett syndrome
    • Diagnostic criteria for Rett syndrome. Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol 1988; 23:425-428 (Pubitemid 18098259)
    • (1988) Annals of Neurology , vol.23 , Issue.4 , pp. 425-428
    • Trevathan, E.1    Moser, H.W.2
  • 9
    • 0035118802 scopus 로고    scopus 로고
    • Mutation spectrum in patients with Rett syndrome in the German population. Evidence of hot spots regions
    • Laccone F, Huppke P, Hanefeld F, Meins M. Mutation spectrum in patients with Rett syndrome in the German population. Evidence of hot spots regions. Hum Mutat 2001; 17:183-190
    • (2001) Hum Mutat , vol.17 , pp. 183-190
    • Laccone, F.1    Huppke, P.2    Hanefeld, F.3    Meins, M.4
  • 12
    • 0034701904 scopus 로고    scopus 로고
    • Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
    • Huppke P, Laccone F, Krämer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000; 9:1369-1375 (Pubitemid 30312485)
    • (2000) Human Molecular Genetics , vol.9 , Issue.9 , pp. 1369-1375
    • Huppke, P.1    Laccone, F.2    Kramer, N.3    Engel, W.4    Hanefeld, F.5
  • 15
    • 0042905824 scopus 로고    scopus 로고
    • Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome
    • DOI 10.1002/humu.10242
    • Schollen E, Smeets E, Deflem E, Fryns JP, Matthijs G. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum Mutat 2003; 22:116-120 (Pubitemid 36950808)
    • (2003) Human Mutation , vol.22 , Issue.2 , pp. 116-120
    • Schollen, E.1    Smeets, E.2    Deflem, E.3    Fryns, J.P.4    Matthijs, G.5
  • 16
    • 1542514789 scopus 로고    scopus 로고
    • Large Deletions of the MECP2 Gene Detected by Gene Dosage Analysis in Patients with Rett Syndrome
    • DOI 10.1002/humu.20004
    • Laccone F, Jünemann I, Whatley S, et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat 2004; 23:234-244 (Pubitemid 38337888)
    • (2004) Human Mutation , vol.23 , Issue.3 , pp. 234-244
    • Laccone, F.1    Junemann, I.2    Whatley, S.3    Morgan, R.4    Butler, R.5    Huppke, P.6    Ravine, D.7
  • 17
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: New Techniques for Detection of Gene Deletions
    • DOI 10.1002/humu.20035
    • Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004; 23:413-419 (Pubitemid 38569212)
    • (2004) Human Mutation , vol.23 , Issue.5 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 18
    • 9244265544 scopus 로고    scopus 로고
    • Rett syndrome: Clinical and molecular update
    • DOI 10.1097/01.mop.0000143693.59408.ce
    • Percy AK, Lane JB. Rett syndrome: clinical and molecular update. Curr Opin Pediatr 2004; 16:670-677 (Pubitemid 39552218)
    • (2004) Current Opinion in Pediatrics , vol.16 , Issue.6 , pp. 670-677
    • Percy, A.K.1    Lane, J.B.2
  • 20
    • 0032836904 scopus 로고    scopus 로고
    • A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers
    • DOI 10.1002/(SICI)1098-1004(199910)14:4<333::AID-HUMU9>3.0.CO;2-C
    • Arnold N, Gross E, Schwarz-Boeger U, et al. A highly sensitive, fast and economical technique for mutation analysis in hereditary breast and ovarian cancers. Hum Mutat 1999; 14:333-339 (Pubitemid 29480318)
    • (1999) Human Mutation , vol.14 , Issue.4 , pp. 333-339
    • Arnold, N.1    Gross, E.2    Schwarz-Boeger, U.3    Pfisterer, J.4    Jonat, W.5    Kiechle, M.6
  • 22
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • DOI 10.1002/humu.1130
    • Xiao WZ, Oefner PJ. Denaturing high-performance liquid chromatography. A review. Hum Mutat 2001; 17:439-474 (Pubitemid 32480082)
    • (2001) Human Mutation , vol.17 , Issue.6 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.