共 19 条
Segmental maternal UPD(7q) in Silver-Russell syndrome
被引:27
作者:

Eggermann, T.
论文数: 0 引用数: 0
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机构:
Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Schoenherr, N.
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h-index: 0
机构:
Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Jaeger, S.
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h-index: 0
机构:
Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Spaich, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Olga Hosp, Inst Clin Genet, Stuttgart, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Ranke, M. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Tubingen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Wollmann, H. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Tubingen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Binder, G.
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h-index: 0
机构:
Univ Childrens Hosp, Tubingen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany
机构:
[1] Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany
[2] Olga Hosp, Inst Clin Genet, Stuttgart, Germany
[3] Univ Childrens Hosp, Tubingen, Germany
关键词:
D O I:
10.1111/j.1399-0004.2008.01057.x
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
引用
收藏
页码:486 / 489
页数:4
相关论文
共 19 条
[1]
The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration
[J].
Binder, Gerhard
;
Seidel, Ann-Kathrin
;
Martin, David D.
;
Schweizer, Roland
;
Schwarze, C. Philipp
;
Wollmann, Hartmut A.
;
Eggermann, Thomas
;
Ranke, Michael B.
.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
2008, 93 (04)
:1402-1407

Binder, Gerhard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany

Seidel, Ann-Kathrin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany

Martin, David D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany

Schweizer, Roland
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany

Schwarze, C. Philipp
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany

Wollmann, Hartmut A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany

Eggermann, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany

Ranke, Michael B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany Univ Childrens Hosp, Pediat Endocrinol Sect, D-72076 Tubingen, Germany
[2]
γ2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome
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Ropers, HH
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Kalscheuer, VM
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Blagitko, N
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机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Schulz, U
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h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Schinzel, AA
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Ropers, HH
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Kalscheuer, VM
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany
[3]
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
[J].
Eggermann, T.
;
Schoenherr, N.
;
Eggermann, K.
;
Buiting, K.
;
Ranke, M. B.
;
Wollmann, H. A.
;
Binder, G.
.
CLINICAL GENETICS,
2008, 73 (01)
:79-84

Eggermann, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Schoenherr, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Eggermann, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Buiting, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Essen Gesamthsch, Inst Human Genet, Essen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Ranke, M. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Childrens Hosp, Tubingen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Wollmann, H. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Childrens Hosp, Tubingen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

Binder, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Childrens Hosp, Tubingen, Germany Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany
[4]
Is maternal duplication of 11p15 associated with Silver-Russell syndrome? -: art. no. e26
[J].
Eggermann, T
;
Meyer, E
;
Obermann, C
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Heil, I
;
Schüler, H
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Ranke, MB
;
Eggermann, K
;
Wollmann, HA
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JOURNAL OF MEDICAL GENETICS,
2005, 42 (05)

Eggermann, T
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

Meyer, E
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

Obermann, C
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

Heil, I
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

Schüler, H
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

Ranke, MB
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

Eggermann, K
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

Wollmann, HA
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany
[5]
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
[J].
Hannula, K
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Kere, J
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Pirinen, S
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Holmberg, C
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Lipsanen-Nyman, M
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JOURNAL OF MEDICAL GENETICS,
2001, 38 (04)
:273-278

Hannula, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

Kere, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

Pirinen, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

Holmberg, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

Lipsanen-Nyman, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland
[6]
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
[J].
Hannula, K
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Lipsanen-Nyman, M
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Kontiokari, T
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Kere, J
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AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 68 (01)
:247-253

Hannula, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

Lipsanen-Nyman, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

Kontiokari, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

Kere, J
论文数: 0 引用数: 0
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机构: Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland
[7]
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions
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Hitchins, MP
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Stanier, P
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Preece, MA
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Moore, GE
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JOURNAL OF MEDICAL GENETICS,
2001, 38 (12)
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Hitchins, MP
论文数: 0 引用数: 0
h-index: 0
机构: Hammersmith Hosp, Dept Fetal & Maternal Med, Inst Reprod & Dev Biol, Fac Med,Imperial Coll, London W12 0NN, England

Stanier, P
论文数: 0 引用数: 0
h-index: 0
机构: Hammersmith Hosp, Dept Fetal & Maternal Med, Inst Reprod & Dev Biol, Fac Med,Imperial Coll, London W12 0NN, England

Preece, MA
论文数: 0 引用数: 0
h-index: 0
机构: Hammersmith Hosp, Dept Fetal & Maternal Med, Inst Reprod & Dev Biol, Fac Med,Imperial Coll, London W12 0NN, England

Moore, GE
论文数: 0 引用数: 0
h-index: 0
机构: Hammersmith Hosp, Dept Fetal & Maternal Med, Inst Reprod & Dev Biol, Fac Med,Imperial Coll, London W12 0NN, England
[8]
The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain
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Kayashima, T
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HUMAN GENETICS,
2003, 112 (03)
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Kayashima, T
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机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Yamasaki, K
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h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

论文数: 引用数:
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机构:

Sakai, H
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Miwa, N
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Ohta, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Yoshiura, K
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h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Matsumoto, N
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h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Nakane, Y
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h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Kanetake, H
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Ishino, F
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h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Niikawa, N
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan

Kishino, T
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机构: Nagasaki Univ, Ctr Gene Res, Nagasaki 8528523, Japan
[9]
Maternal uniparental disomy 7 - review and further delineation of the phenotype
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Kotzot, D
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Balmer, D
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Baumer, A
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Chrzanowska, K
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Kotzot, D
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h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Balmer, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Baumer, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Chrzanowska, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Hamel, BCJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Ilyina, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Krajewska-Walasek, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Lurie, IW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Otten, BJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Schoenle, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Tariverdian, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

Schinzel, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland
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UNIPARENTAL DISOMY-7 IN SILVER-RUSSELL-SYNDROME AND PRIMORDIAL GROWTH-RETARDATION
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KOTZOT, D
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ROBINSON, WP
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MEHES, K
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KOTZOT, D
论文数: 0 引用数: 0
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机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

SCHMITT, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

BERNASCONI, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

ROBINSON, WP
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

LURIE, IW
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

ILYINA, H
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

MEHES, K
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

HAMEL, BCJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

OTTEN, BJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

HERGERSBERG, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

WERDER, E
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

SCHOENLE, E
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND

SCHINZEL, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND