Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic sperm injection

被引：265

作者：

Orstavik, KH ^{[1
]}

Eiklid, K

van der Hagen, CB

Spetalen, S

Kierulf, K

Skjeldal, O

Buiting, K

机构：

[1] Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway

[2] Univ Oslo, Rikshosp, Dept Pediat, N-0027 Oslo, Norway

[3] Univ Oslo, Inst Med Genet, Oslo 3, Norway

[4] Univ Oslo, Inst Grp Clin Med, Oslo 3, Norway

[5] Univ Oslo, Ulleval Hosp, Dept Med Genet, Oslo, Norway

[6] Univ Oslo, Ulleval Hosp, Dept Gynecol, Oslo, Norway

[7] Huseby Resource Ctr, Oslo, Norway

[8] Univ Essen Gesamthsch, Inst Humangenet, Essen, Germany

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 72卷 / 01期

关键词：

D O I：

10.1086/346030

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：218 / 219

页数：2

共 6 条

[1] Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome:: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
Buiting, K
Dittrich, B
Gross, S
Lich, C
Färber, C
Buchholz, T
Smith, E
Reis, A
Bürger, J
Nöthen, MM
Barth-Witte, U
Janssen, B
Abeliovich, D
Lerer, I
van den Ouweland, AMW
Halley, DJJ
Schrander-Stumpel, C
Smeets, H
Meinecke, P
Malcolm, S
Gardner, A
Lalande, M
Nicholls, RD
Friend, K
Schulze, A
Matthijs, G
Kokkonen, H
Hilbert, P
Van Maldergem, L
Glover, G
Carbonell, P
Willems, P
Gillessen-Kaesbach, G
Horsthemke, B
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) : 170 - 180
[2] A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
Buiting, K
Lich, C
Cottrell, S
Barnicoat, A
Horsthemke, B
[J]. HUMAN GENETICS, 1999, 105 (06) : 665 - 666
[3] Intracytoplasmic sperm injection may increase the risk of imprinting defects
Cox, GF
Bürger, J
Lip, V
Mau, UA
Sperling, K
Wu, BL
Horsthemke, B
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (01) : 162 - 164
[4] Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects
Manning, M
Lissens, W
Bonduelle, M
Camus, M
De Rijcke, M
Liebaers, I
Van Steirteghem, A
[J]. MOLECULAR HUMAN REPRODUCTION, 2000, 6 (11) : 1049 - 1053
[5] Outcome in the second year of life after in-vitro fertilisation by intracytoplasmic sperm injection: a UK case-control study
Sutcliffe, AG
Taylor, B
Saunders, K
Thornton, S
Lieberman, BA
Grudzinskas, JG
[J]. LANCET, 2001, 357 (9274) : 2080 - 2084
[6] A single-tube PCR test for the diagnosis of angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
Zeschnigk, M
Lich, C
Buiting, K
Doerfler, W
Horsthemke, B
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1997, 5 (02) : 94 - 98

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