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A supervised learning method for classifying methylation disorders

BMC bioinformatics, 2024-02, Vol.25 (1), p.66-66

2024

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Russel-Silver syndrome: A historical note and comment on an older adult

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.466-470

2016

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Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2731-2739

2016

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Russell–Silver Syndrome and Associated Feeding Challenges

Journal of pediatric health care, 2021-11, Vol.35 (6), p.630-638

2021

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Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation

Current opinion in endocrinology, diabetes, and obesity, 2014-02, Vol.21 (1), p.30-38

2014

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

BMC medical genomics, 2018-12, Vol.11 (1), p.124-7, Article 124

2018

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Epigenetic and genetic diagnosis of Silver-Russell syndrome

Expert review of molecular diagnostics, 2012-06, Vol.12 (5), p.459-471

2012

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Systemic and maxillofacial characteristics of 11 Japanese children with Russell-Silver syndrome

Congenital anomalies, 2016-09, Vol.56 (5), p.217-225

2016

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Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

Human mutation, 2011-02, Vol.32 (2), p.249-258

2011

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Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome

Genetic testing and molecular biomarkers, 2011-10, Vol.15 (10), p.725

2011

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Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay

Genetic testing and molecular biomarkers, 2009-10, Vol.13 (5), p.623

2009

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Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Genetics in medicine, 2018-02, Vol.20 (2), p.250-258

2018

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Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes

Cell reports (Cambridge), 2021-02, Vol.34 (6), p.108729-108729, Article 108729

2021

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Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

Archives of disease in childhood, 2019-01, Vol.104 (1), p.76

2019

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Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database

Human mutation, 2018-03, Vol.39 (3), p.345-364

2018

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Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3136-3145

2021

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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

The journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088

2018

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Computer-aided facial analysis as a tool to identify patients with Silver–Russell syndrome and Prader–Willi syndrome

European journal of pediatrics, 2023-06, Vol.182 (6), p.2607-2614

2023

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Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

Frontiers in endocrinology (Lausanne), 2024-03, Vol.15, p.1364234

2024

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A spontaneous pregnancy and successful delivery in a Chinese female with Silver-Russell syndrome accompanied by gestational diabetes mellitus

Gynecological endocrinology, 2019-09, Vol.35 (9), p.752-755

2019

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Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management

International journal of molecular sciences, 2019-08, Vol.20 (17), p.4219

2019

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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Clinical epigenetics, 2020-06, Vol.12 (1), p.86-86, Article 86

2020

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Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity

Archivos argentinos de pediatría, 2020-06, Vol.118 (3), p.e258-e264

2020

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First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome

Sultan Qaboos University medical journal, 2023-05, Vol.23 (2), p.264-268

2023

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

A supervised learning method for classifying methylation disorders

Russel-Silver syndrome: A historical note and comment on an older adult

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome

Russell–Silver Syndrome and Associated Feeding Challenges

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

Epigenetic and genetic diagnosis of Silver-Russell syndrome

Systemic and maxillofacial characteristics of 11 Japanese children with Russell-Silver syndrome

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database

Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Computer-aided facial analysis as a tool to identify patients with Silver–Russell syndrome and Prader–Willi syndrome

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

A spontaneous pregnancy and successful delivery in a Chinese female with Silver-Russell syndrome accompanied by gestational diabetes mellitus

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity

First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome

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