SCOPUS 정보 검색 플랫폼

Journal of Medical Genetics

Volumn 38, Issue 4, 2001, Pages 224-228

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

(7) Watson, P a Black, G a,b Ramsden, S a Barrow, M c Super, M d Kerr, B d Clayton Smith, J a

a ST MARY S HOSPITAL (United Kingdom)

b MANCHESTER ROYAL EYE HOSPITAL (United Kingdom)

c LEICESTER ROYAL INFIRMARY (United Kingdom)

d ROYAL MANCHESTER CHILDREN S HOSPITAL (United Kingdom)

Author keywords

Angelman syndrome; MECP2 mutations; Rett syndrome

Indexed keywords

BINDING PROTEIN;

ARTICLE; CHROMOSOME 15Q; CLINICAL ARTICLE; CPG ISLAND; FEMALE; GENE MUTATION; GENETIC COUNSELING; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; TREMOR; X CHROMOSOME LINKAGE;

ATAXIA;

EID: 0035054930 PISSN: 00222593 EISSN: None Source Type: Journal
DOI: 10.1136/jmg.38.4.224 Document Type: Article

Times cited : (177)

References (20)

1
- 84995191751
- Puppet children
- (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
- Angelman, H.¹

2
- 0023925498
- The LEG in early diagnosis of the Angelman (happy puppet) syndrome
- (1988) Eur J Pediatr , vol.147 , pp. 508-513
- Boyd, S.G.¹ Harden, A.² Patton, M.A.³

3
- 0027474136
- Clinical research on Angelman syndrome in the UK: Observations on 82 affected individuals
- (1993) Am J Med Genet , vol.46 , pp. 12-15
- Clayton-Smith, J.¹

4
- 0029348110
- Angelman syndrome
- (1995) Curr Probl Pediatr , vol.25 , pp. 216-231
- Williams, C.A.¹ Zori, R.T.² Hendrickson, J.³ Stalker, H.⁴ Marum, T.⁵ Whidden, E.⁶ Driscoll, D.J.⁷

5
- 0033358742
- Genetics of Angelman syndrome
- (1999) Am J Hum Genet , vol.65 , pp. 1-6
- Jiang, Y.¹ Lev-Lehman, E.² Bressler, J.³ Ting-Fen, T.⁴ Beaudet, A.L.⁵

6
- 0031012849
- UBE3A/E6-AP mutations cause Angelman syndrome
- (1997) Nat Genet , vol.15 , pp. 70-73
- Kishino, T.¹ Lalande, M.² Wagstaff, J.³

7
- 0032546297
- Angelman syndrome without detectable chromosome 15q11-13 anomaly: Clinical study of familial and isolated cases
- (1998) Am J Med Genet , vol.76 , pp. 262-268
- Laan, L.A.E.M.¹ Halley, D.J.J.² Den Boer, A.T.³ Hennekam, R.C.M.⁴ Renier, W.O.⁵ Brouwer, O.F.⁶

8
- 0029760340
- Rett syndrome
- (1996) J Med Genet , vol.33 , pp. 695-699
- Clarke, A.¹

9
- 0033365401
- Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
- (1999) Am J Hum Genet , vol.65 , pp. 1520-1529
- Wan, M.¹ Sung Jae Lee, S.² Zhang, X.³

10
- 0029026402
- Clinical delineation of Rett syndrome variants
- (1995) Neuropediatrics , vol.26 , pp. 62
- Hagberg, B.¹

11
- 0005239093
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG- binding protein 2
- (1999) Nat Genet , vol.12 , pp. 205-208
- Amir, R.E.¹ Van den Veyver, I.B.² Wan, M.³ Tran, C.Q.⁴ Francke, U.⁵ Zoghbi, H.⁶

12
- 0030071685
- The methyl-CpG binding protein Mecp2 is essential for embryonic development in the mouse
- (1996) Nat Genet , vol.12 , pp. 205-208
- Tate, P.¹ Skarnes, W.² Bird, A.³

13
- 0025233731
- Angelman's syndrome
- (1990) J Med Genet , vol.27 , pp. 275-278
- Scheffer, I.¹ Brett, E.M.² Wilson, J.³ Baraitser, M.⁴

14
- 0028969404
- Angelman syndrome: Consensus for diagnostic criteria
- (1995) Am J Med Genet , vol.56 , pp. 237-238
- Williams, C.A.¹ Angelman, H.² Clayton-Smith, J.³

15
- 0034596477
- Somatic mutation in MECP2 as a cause of non-fatal neurodevelopmental disorder in males
- (2000) Lancet , vol.356 , pp. 830-832
- Clayton-Smith, J.¹ Watson, P.² Ramsden, S.³ Black, G.C.M.⁴

16
- 0031839268
- The diagnostic value of the EEG in Angelman syndrome and Rett syndrome at a young age
- (1998) Electroencephalogr Clin Neurophysiol , vol.106 , pp. 404-408
- Laan, L.A.E.M.¹ Brouwer, O.E.² Begeer, C.H.³ Zwinderman, A.H.⁴ Van Dijk, J.G.⁵

17
- 0032574977
- Transcriptional repression by the methyl-CpG- binding protein MeCP2 involves a histone deacetylase complex
- (1998) Nature , vol.393 , pp. 386-389
- Nan, X.¹ Ng, H.H.² Johnson, C.A.³

18
- 0034060636
- Mutation screening in Rett syndrome
- (2000) J Med Genet , vol.37 , pp. 250-255
- Xiang, F.¹ Buervenich, S.² Nicolao, P.³ Bailey, M.E.⁴ Zhang, Z.⁵ Anvret, M.⁶

19
- 0031444629
- Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations
- (1997) Am J Hum Genet , vol.61 , pp. 1342-1352
- Browne, C.E.¹ Dennis, N.R.² Maher, E.³ Long, S.L.⁴ Nicholson, J.⁵ Sillbourne, J.⁶ Barber, J.C.K.⁷

20
- 0028128302
- Inv dup(15)supernumerary marker chromosomes
- (1994) J Med Genet , vol.31 , pp. 585-594
- Webb, T.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.