共 6 条
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
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway

Eiklid, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway

van der Hagen, CB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway

Spetalen, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway

Kierulf, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway

Skjeldal, O
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway

Buiting, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway
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
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
收藏
页码:218 / 219
页数:2
相关论文
共 6 条
[1]
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome:: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
[J].
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
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1998, 63 (01)
:170-180

Buiting, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Dittrich, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Gross, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Lich, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Färber, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Buchholz, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Smith, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Reis, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Bürger, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Nöthen, MM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Barth-Witte, U
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Janssen, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Abeliovich, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Lerer, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

van den Ouweland, AMW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Halley, DJJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Schrander-Stumpel, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Smeets, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Meinecke, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Malcolm, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Gardner, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Lalande, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Nicholls, RD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Friend, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Schulze, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Matthijs, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Kokkonen, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Hilbert, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Van Maldergem, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Glover, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Carbonell, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Willems, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Gillessen-Kaesbach, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

Horsthemke, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany
[2]
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
[J].
Buiting, K
;
Lich, C
;
Cottrell, S
;
Barnicoat, A
;
Horsthemke, B
.
HUMAN GENETICS,
1999, 105 (06)
:665-666

Buiting, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany

Lich, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany

Cottrell, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany

Barnicoat, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany

Horsthemke, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany
[3]
Intracytoplasmic sperm injection may increase the risk of imprinting defects
[J].
Cox, GF
;
Bürger, J
;
Lip, V
;
Mau, UA
;
Sperling, K
;
Wu, BL
;
Horsthemke, B
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2002, 71 (01)
:162-164

Cox, GF
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp, Boston, MA 02115 USA

Bürger, J
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp, Boston, MA 02115 USA

Lip, V
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp, Boston, MA 02115 USA

Mau, UA
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp, Boston, MA 02115 USA

Sperling, K
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp, Boston, MA 02115 USA

Wu, BL
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp, Boston, MA 02115 USA

Horsthemke, B
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp, Boston, MA 02115 USA
[4]
Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects
[J].
Manning, M
;
Lissens, W
;
Bonduelle, M
;
Camus, M
;
De Rijcke, M
;
Liebaers, I
;
Van Steirteghem, A
.
MOLECULAR HUMAN REPRODUCTION,
2000, 6 (11)
:1049-1053

Manning, M
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Brussels, Univ Hosp, Ctr Med Genet, B-1090 Brussels, Belgium

Lissens, W
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Brussels, Univ Hosp, Ctr Med Genet, B-1090 Brussels, Belgium

Bonduelle, M
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Brussels, Univ Hosp, Ctr Med Genet, B-1090 Brussels, Belgium

Camus, M
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Brussels, Univ Hosp, Ctr Med Genet, B-1090 Brussels, Belgium

De Rijcke, M
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Brussels, Univ Hosp, Ctr Med Genet, B-1090 Brussels, Belgium

Liebaers, I
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Brussels, Univ Hosp, Ctr Med Genet, B-1090 Brussels, Belgium

Van Steirteghem, A
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Brussels, Univ Hosp, Ctr Med Genet, B-1090 Brussels, Belgium
[5]
Outcome in the second year of life after in-vitro fertilisation by intracytoplasmic sperm injection: a UK case-control study
[J].
Sutcliffe, AG
;
Taylor, B
;
Saunders, K
;
Thornton, S
;
Lieberman, BA
;
Grudzinskas, JG
.
LANCET,
2001, 357 (9274)
:2080-2084

Sutcliffe, AG
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Dept Paediat & Child Hlth, London NW3 2PF, England

Taylor, B
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Dept Paediat & Child Hlth, London NW3 2PF, England

Saunders, K
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Dept Paediat & Child Hlth, London NW3 2PF, England

Thornton, S
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Dept Paediat & Child Hlth, London NW3 2PF, England

Lieberman, BA
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Dept Paediat & Child Hlth, London NW3 2PF, England

Grudzinskas, JG
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Dept Paediat & Child Hlth, London NW3 2PF, England
[6]
A single-tube PCR test for the diagnosis of angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
[J].
Zeschnigk, M
;
Lich, C
;
Buiting, K
;
Doerfler, W
;
Horsthemke, B
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
1997, 5 (02)
:94-98

Zeschnigk, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ESSEN GESAMTHSCH KLINIKUM,INST HUMAN GENET,D-45122 ESSEN,GERMANY

Lich, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ESSEN GESAMTHSCH KLINIKUM,INST HUMAN GENET,D-45122 ESSEN,GERMANY

Buiting, K
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ESSEN GESAMTHSCH KLINIKUM,INST HUMAN GENET,D-45122 ESSEN,GERMANY

论文数: 引用数:
h-index:
机构:

Horsthemke, B
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ESSEN GESAMTHSCH KLINIKUM,INST HUMAN GENET,D-45122 ESSEN,GERMANY