SCOPUS 정보 검색 플랫폼

Volumn 105, Issue 6, 1999, Pages 665-666

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

(5) Buiting, Karin a Lich, Christina a Cottrell, Sally b Barnicoat, Angela b Horsthemke, Bernhard a

a UNIVERSITY HOSPITAL ESSEN (Germany)

b UNIVERSITY COLLEGE LONDON (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 15Q; GENE DELETION; GENE LOCUS; HAPPY PUPPET SYNDROME; HUMAN; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ANGELMAN SYNDROME; BASE SEQUENCE; BLOTTING, SOUTHERN; CENTROMERE; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 15; GENE DELETION; GENOMIC IMPRINTING; HUMANS; MOLECULAR SEQUENCE DATA; PHYSICAL CHROMOSOME MAPPING;

SIGANUS;

EID: 0033396274 PISSN: 03406717 EISSN: None Source Type: Journal
DOI: 10.1007/s004390051160 Document Type: Article

Times cited : (92)

References (5)

1
- 0028939902
- Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
- Buiting K, Saitoh S, Groß S, Dittrich B, Schwartz S, Nicholls R, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
- (1995) Nat Genet , vol.9 , pp. 395-400
- Buiting, K.¹ Saitoh, S.² Groß, S.³ Dittrich, B.⁴ Schwartz, S.⁵ Nicholls, R.⁶ Horsthemke, B.⁷

2
- 17144438935
- The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
- Färber C, Dittrich B, Buiting K, Horsthemke B (1999) The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Hum Mol Genet 8:337-343
- (1999) Hum Mol Genet , vol.8 , pp. 337-343
- Färber, C.¹ Dittrich, B.² Buiting, K.³ Horsthemke, B.⁴

3
- 0033070151
- Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation
- Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB. Horsthemke B, Nicholls RD (1999) Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64: 385-396
- (1999) Am J Hum Genet , vol.64 , pp. 385-396
- Ohta, T.¹ Buiting, K.² Kokkonen, H.³ McCandless, S.⁴ Heeger, S.⁵ Leisti, H.⁶ Driscoll, D.J.⁷ Cassidy, S.B.⁸ Horsthemke, B.⁹ Nicholls, R.D.¹⁰

4
- 16044365355
- Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
- Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 93:7811-7815
- (1996) Proc Natl Acad Sci USA , vol.93 , pp. 7811-7815
- Saitoh, S.¹ Buiting, K.² Rogan, P.K.³ Buxton, J.L.⁴ Driscoll, D.J.⁵ Arnemann, J.⁶ König, R.⁷ Malcolm, S.⁸ Horsthemke, B.⁹ Nicholls, R.D.¹⁰

5
- 0031848147
- Methylation analysis of the PWS/AS region does not support an enhancer-competition model
- Schumacher A, Buiting K, Zeschnigk M, Doerfler W, Horsthemke B (1998) Methylation analysis of the PWS/AS region does not support an enhancer-competition model. Nat Genet 19:324-325
- (1998) Nat Genet , vol.19 , pp. 324-325
- Schumacher, A.¹ Buiting, K.² Zeschnigk, M.³ Doerfler, W.⁴ Horsthemke, B.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.