4.5 Article

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly

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。
Article Endocrinology & Metabolism

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Emma L. Wakeling et al.

NATURE REVIEWS ENDOCRINOLOGY (2017)

Letter Genetics & Heredity

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)

Article Medicine, General & Internal

Paternally Inherited IGF2 Mutation and Growth Restriction

Matthias Begemann et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Endocrinology & Metabolism

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

Fumiko Kato et al.

CLINICAL ENDOCRINOLOGY (2014)

Article Multidisciplinary Sciences

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

Tomoko Fuke et al.

PLOS ONE (2013)

Article Genetics & Heredity

Epigenoty-pephenotype correlations in Silver-Russell syndrome

E. L. Wakeling et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Endocrinology & Metabolism

The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration

Gerhard Binder et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Letter Developmental Biology

Placentomegaly in paternal uniparental disomy for human chromosome 14

M. Kagami et al.

PLACENTA (2008)

Review Biochemistry & Molecular Biology

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

Holly A. Kuzmiak et al.

TRENDS IN MOLECULAR MEDICINE (2006)

Article Endocrinology & Metabolism

Hormonal regulation of fetal growth

C Gicquel et al.

HORMONE RESEARCH (2006)

Article Endocrinology & Metabolism

Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients

C Obermann et al.

MOLECULAR GENETICS AND METABOLISM (2004)