SCOPUS 정보 검색 플랫폼

Volumn 28, Issue 3, 2013, Pages 392-395

Angelman syndrome due to a termination codon mutation of the UBE3A gene

(6) Al Maawali, Almundher a MacHado, Jerry a Fang, Ping b Dupuis, Lucie a Faghfoury, Hannaneh c Mendoza Londono, Roberto a

a HOSPITAL FOR SICK CHILDREN (Canada)

b BAYLOR COLLEGE OF MEDICINE (United States)

c UNIVERSITY HEALTH NETWORK (Canada)

Author keywords

Angelman syndrome; deletion; mutation; phenotype; UBE3A

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; GENE; GENE MUTATION; HAPPY PUPPET SYNDROME; HUMAN; MALE; MEDICAL HISTORY; MICROCEPHALY; PERSONALITY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; STEREOTYPY; STOP CODON; UBE3A GENE;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CODON, TERMINATOR; DEVELOPMENTAL DISABILITIES; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; MUTATION; SEVERITY OF ILLNESS INDEX; UBIQUITIN-PROTEIN LIGASES;

EID: 84873656597 PISSN: 08830738 EISSN: 17088283 Source Type: Journal
DOI: 10.1177/0883073812443591 Document Type: Article

Times cited : (5)

References (8)

1
- 33644865491
- Angelman syndrome 2005: Updated consensus for diagnostic criteria
- DOI 10.1002/ajmg.a.31074
- Williams CA, Beaudet AL, Clayton-Smith J, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006 ; 140: 413-418 (Pubitemid 43376311)
- (2006) American Journal of Medical Genetics , vol.140 A , Issue.5 , pp. 413-418
- Williams, C.A.¹ Beaudet, A.L.² Clayton-Smith, J.³ Knoll, J.H.⁴ Kyllerman, M.⁵ Laan, L.A.⁶ Magenis, R.E.⁷ Moncla, A.⁸ Schinzel, A.A.⁹ Summers, J.A.¹⁰ Wagstaff, J.¹¹

2
- 0037328861
- Angelman syndrome: A review of the clinical and genetic aspects
- Clayton-Smith J, Laan L. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet. 2003 ; 40: 87-95 (Pubitemid 36232812)
- (2003) Journal of Medical Genetics , vol.40 , Issue.2 , pp. 87-95
- Clayton-Smith, J.¹ Laan, L.²

3
- 77955173454
- Clinical and genetic aspects of Angelman syndrome
- Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010 ; 12: 385-395
- (2010) Genet Med , vol.12 , pp. 385-395
- Williams, C.A.¹ Driscoll, D.J.² Dagli, A.I.³

4
- 78049411377
- Epilepsy in patients with Angelman syndrome
- Fiumara A, Pittalà A, Cocuzza M, et al. Epilepsy in patients with Angelman syndrome. Ital J Pediatr. 2010 ; 36: 31
- (2010) Ital J Pediatr , vol.36 , pp. 31
- Fiumara, A.¹ Pittalà, A.² Cocuzza, M.³

5
- 77649083119
- The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc
- Greer PL, Hanayama R, Bloodgood BL, et al. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell. 2010 ; 140: 704-716
- (2010) Cell , vol.140 , pp. 704-716
- Greer, P.L.¹ Hanayama, R.² Bloodgood, B.L.³

6
- 0032939631
- The spectrum of mutations in UBE3A causing Angelman syndrome
- DOI 10.1093/hmg/8.1.129
- Fang P, Lev-Lehman E, Tsai TF, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet. 1999 ; 8: 129-135 (Pubitemid 29039058)
- (1999) Human Molecular Genetics , vol.8 , Issue.1 , pp. 129-135
- Fang, P.¹ Lev-Lehman, E.² Tsai, T.-F.³ Matsuura, T.⁴ Benton, C.S.⁵ Sutcliffe, J.S.⁶ Christian, S.L.⁷ Kubota, T.⁸ Halley, D.J.⁹ Meijers-Heijboer, H.¹⁰ Langlois, S.¹¹ Graham Jr., J.M.¹² Beuten, J.¹³ Willems, P.J.¹⁴ Ledbetter, D.H.¹⁵ Beaudet, A.L.¹⁶

7
- 48449085507
- Angelman syndrome due to a novel splicing mutation of the UBE3A gene
- Sartori S, Anesi L, Polli R, et al. Angelman syndrome due to a novel splicing mutation of the UBE3A gene. J Child Neurol. 2008 ; 23: 912-915
- (2008) J Child Neurol , vol.23 , pp. 912-915
- Sartori, S.¹ Anesi, L.² Polli, R.³

8
- 0034164590
- Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome
- Russo S, Cogliati F, Viri M, et al. Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome. Hum Mutat. 2000 ; 15: 387
- (2000) Hum Mutat , vol.15 , pp. 387
- Russo, S.¹ Cogliati, F.² Viri, M.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.