共 44 条
Epigenetic signatures of Silver-Russell syndrome
被引:20
作者:

Abu-Amero, Sayeda
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Wakeling, Emma L.
论文数: 0 引用数: 0
h-index: 0
机构:
Northwick Pk Hosp & Clin Res Ctr, N W London Hosp NHS Trust, Harrow HA1 3UJ, Middx, England UCL, Inst Child Hlth, London WC1N 1EH, England

Preece, Mike
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Whittaker, John
论文数: 0 引用数: 0
h-index: 0
机构:
London Sch Hyg & Trop Med, Dept Epidemiol & Populat Hlth, London WC1, England UCL, Inst Child Hlth, London WC1N 1EH, England

Stanier, Philip
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Moore, Gudrun E.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England
机构:
[1] UCL, Inst Child Hlth, London WC1N 1EH, England
[2] Northwick Pk Hosp & Clin Res Ctr, N W London Hosp NHS Trust, Harrow HA1 3UJ, Middx, England
[3] London Sch Hyg & Trop Med, Dept Epidemiol & Populat Hlth, London WC1, England
关键词:
MATERNAL UNIPARENTAL DISOMY;
IMPRINTING CENTER REGION;
IN-VITRO FERTILIZATION;
HUMAN-CHROMOSOME;
7Q32;
HUMAN GRB10;
INCLUDING GRB10;
NO EVIDENCE;
11P15;
METHYLATION;
GENE;
D O I:
10.1136/jmg.2009.071316
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
引用
收藏
页码:150 / 154
页数:5
相关论文
共 44 条
[1]
The genetic aetiology of Silver-Russell syndrome
[J].
Abu-Amero, S.
;
Monk, D.
;
Frost, J.
;
Preece, M.
;
Stanier, P.
;
Moore, G. E.
.
JOURNAL OF MEDICAL GENETICS,
2008, 45 (04)
:193-199

Abu-Amero, S.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Monk, D.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Frost, J.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Preece, M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Stanier, P.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England

Moore, G. E.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England
[2]
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis
[J].
Alders, Marielle
;
Bliek, Jet
;
van der Lip, Karin
;
van der Bogaard, Ruud
;
Mannens, Marcel
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2009, 17 (04)
:467-473

Alders, Marielle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

论文数: 引用数:
h-index:
机构:

van der Lip, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

van der Bogaard, Ruud
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Mannens, Marcel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Clin Genet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
[3]
A review of known imprinting syndromes and their association with assisted reproduction technologies
[J].
Amor, David J.
;
Halliday, Jane
.
HUMAN REPRODUCTION,
2008, 23 (12)
:2826-2834

论文数: 引用数:
h-index:
机构:

Halliday, Jane
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic 3052, Australia Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
[4]
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
[J].
Bartholdi, D.
;
Krajewska-Walasek, M.
;
Ounap, K.
;
Gaspar, H.
;
Chrzanowska, K. H.
;
Ilyana, H.
;
Kayserili, H.
;
Lurie, I. W.
;
Schinzel, A.
;
Baumer, A.
.
JOURNAL OF MEDICAL GENETICS,
2009, 46 (03)
:192-197

Bartholdi, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

Krajewska-Walasek, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

论文数: 引用数:
h-index:
机构:

Gaspar, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

Chrzanowska, K. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

Ilyana, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Belorussian Res Inst Hereditary Dis, Minsk, BELARUS Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

Kayserili, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Dept Med Genet, Istanbul Fac Med, Istanbul, Turkey Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

Lurie, I. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Belorussian Res Inst Hereditary Dis, Minsk, BELARUS
Maryland Phys Associates, Baltimore, MD USA Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

Schinzel, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

Baumer, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland
[5]
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome
[J].
Bentley, L
;
Nakabayashi, K
;
Monk, D
;
Beechey, C
;
Peters, J
;
Birjandi, Z
;
Khayat, FE
;
Patel, M
;
Preece, MA
;
Stanier, P
;
Scherer, SW
;
Moore, GE
.
JOURNAL OF MEDICAL GENETICS,
2003, 40 (04)
:249-256

Bentley, L
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Nakabayashi, K
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Monk, D
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Beechey, C
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Peters, J
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Birjandi, Z
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Khayat, FE
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Patel, M
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

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

论文数: 引用数:
h-index:
机构:

Scherer, SW
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

Moore, GE
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England
[6]
No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation
[J].
Bernier-Latmani, Jeremiah
;
Baumer, Alessandra
;
Shaw, Phillip
.
PLOS ONE,
2009, 4 (08)

论文数: 引用数:
h-index:
机构:

Baumer, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Lausanne, Inst Pathol, Div Expt Pathol, Lausanne, Switzerland

Shaw, Phillip
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Inst Pathol, Div Expt Pathol, Lausanne, Switzerland Univ Lausanne, Inst Pathol, Div Expt Pathol, Lausanne, Switzerland
[7]
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
[8]
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
[J].
Blagitko, N
;
Mergenthaler, S
;
Schulz, U
;
Wollmann, HA
;
Craigen, W
;
Eggermann, T
;
Ropers, HH
;
Kalscheuer, VM
.
HUMAN MOLECULAR GENETICS,
2000, 9 (11)
:1587-1595

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

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

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

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

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

Eggermann, T
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
[9]
Hypomethylation of the h19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
[J].
Bliek, J
;
Terhal, P
;
van den Bogaard, MJ
;
Maas, S
;
Hamel, B
;
Salieb-Beugelaar, G
;
Simon, M
;
Letteboer, T
;
van der Smagt, J
;
Kroes, H
;
Mannens, M
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2006, 78 (04)
:604-614

论文数: 引用数:
h-index:
机构:

Terhal, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

van den Bogaard, MJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

Maas, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

Hamel, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

Salieb-Beugelaar, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

Simon, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

Letteboer, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

van der Smagt, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

Kroes, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

Mannens, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands
[10]
Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree of H19 Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies
[J].
Bruce, Sara
;
Hannula-Jouppi, Katariina
;
Peltonen, Jari
;
Kere, Juha
;
Lipsanen-Nyman, Marita
.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
2009, 94 (02)
:579-587

Bruce, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden
Univ Helsinki, Dept Med Genet, Helsinki 00014, Finland
Folkhalsan Inst Genet, Helsinki 00014, Finland Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden

Hannula-Jouppi, Katariina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Dept Med Genet, Helsinki 00014, Finland
Folkhalsan Inst Genet, Helsinki 00014, Finland Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden

Peltonen, Jari
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Hosp Children & Adolescents, Helsinki 00029, Finland Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden

Kere, Juha
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden
Univ Helsinki, Dept Med Genet, Helsinki 00014, Finland
Folkhalsan Inst Genet, Helsinki 00014, Finland Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden

Lipsanen-Nyman, Marita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Hosp Children & Adolescents, Helsinki 00029, Finland Karolinska Inst, Dept Biosci & Nutr, S-14157 Huddinge, Sweden