相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Diagnosis and management of Silver-Russell syndrome: first international consensus statement
Emma L. Wakeling et al.
NATURE REVIEWS ENDOCRINOLOGY (2017)
No Major Contribution of IGF2 Variants to the Etiology of Sporadic 11p15-Associated Imprinting Disorders
Anne Mueller et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Paternally Inherited IGF2 Mutation and Growth Restriction
Matthias Begemann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C
Shinichi Nakashima et al.
JOURNAL OF HUMAN GENETICS (2015)
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients
Fumiko Kato et al.
CLINICAL ENDOCRINOLOGY (2014)
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
Franck Court et al.
GENOME RESEARCH (2014)
Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation
Salah Azzi et al.
HUMAN MUTATION (2014)
Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome
Tomoko Fuke et al.
PLOS ONE (2013)
Impaired mesenchymal stem cell differentiation and osteoclastogenesis in mice deficient for Igf2-P2 transcripts
Sylvie Nathalie Hardouin et al.
DEVELOPMENT (2011)
Epigenoty-pephenotype correlations in Silver-Russell syndrome
E. L. Wakeling et al.
JOURNAL OF MEDICAL GENETICS (2010)
Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree of H19 Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies
Sara Bruce et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration
Gerhard Binder et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Molecular and clinical findings and their correlations in Silver-Russell syndrome:: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas
Kazuki Yamazawa et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2008)
Placentomegaly in paternal uniparental disomy for human chromosome 14
M. Kagami et al.
PLACENTA (2008)
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations
Irene Netchine et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges
Holly A. Kuzmiak et al.
TRENDS IN MOLECULAR MEDICINE (2006)
Hormonal regulation of fetal growth
C Gicquel et al.
HORMONE RESEARCH (2006)
Metalloproteinase pregnancy-associated plasma protein A is a critical growth regulatory factor during fetal development
CA Conover et al.
DEVELOPMENT (2004)
Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients
C Obermann et al.
MOLECULAR GENETICS AND METABOLISM (2004)
CTCF binding at the insulin-like growth factor-II (IGF2)/H19 imprinting control region is insufficient to regulate IGF2/H19 expression in human tissues
GA Ulaner et al.
ENDOCRINOLOGY (2003)