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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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CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Journal of medical genetics, 2013-12, Vol.50 (12), p.823-830

2013

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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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Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome

PLoS genetics, 2016-03, Vol.12 (3), p.e1005916-e1005916

2016

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Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Human mutation, 2014-10, Vol.35 (10), p.1211-1220

2014

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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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Russell-Silver syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-08, Vol.154C (3), p.355-364

Eggermann, Thomas

2010

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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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Is ZFP57 binding to H19/IGF2 :IG-DMR affected in Silver-Russell syndrome?

Clinical epigenetics, 2018-02, Vol.10 (1), p.23-23, Article 23

2018

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Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan

Journal of clinical nursing, 2012-01, Vol.21 (1-2), p.160-169

2012

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Adult phenotype of Russell‐Silver syndrome: A molecular support for Barker‐Brenner's theory

Congenital anomalies, 2015-08, Vol.55 (3), p.167-169

2015

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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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Cerebral aneurysms and accelerated atherosclerosis in Russell-Silver syndrome: a new subtype? Case report

Journal of neurosurgery, 2015-08, Vol.123 (2), p.467-469

2015

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Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2415-2423

2009

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Silver-Russell syndrome: genetic basis and molecular genetic testing

Orphanet journal of rare diseases, 2010-06, Vol.5 (1), p.19-19, Article 19

2010

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A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2421-2428

2022

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Occlusal Characteristics of Individuals with Growth Hormone Deficiency, Idiopathic Short Stature, and Russell-Silver Syndrome

Journal of dentistry for children (Chicago, Ill.), 2015-09, Vol.82 (3), p.135

2015

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Russell–Silver syndrome due to paternal H19 / IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection

Reproductive biomedicine online, 2010-06, Vol.20 (6), p.843-847

2010

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Methylation profiling in individuals with Russell-Silver syndrome

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.347-355

2010

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Executive functioning in adolescents and adults with Silver-Russell syndrome

PloS one, 2023-01, Vol.18 (1), p.e0279745-e0279745

2023

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Type 1 collagenopathy presenting with a Russell–Silver phenotype

American journal of medical genetics. Part A, 2011-06, Vol.155 (6), p.1414-1418

2011

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

A supervised learning method for classifying methylation disorders

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

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

Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Russell–Silver Syndrome and Associated Feeding Challenges

Russell-Silver syndrome

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

Is ZFP57 binding to H19/IGF2 :IG-DMR affected in Silver-Russell syndrome?

Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan

Adult phenotype of Russell‐Silver syndrome: A molecular support for Barker‐Brenner's theory

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

Cerebral aneurysms and accelerated atherosclerosis in Russell-Silver syndrome: a new subtype? Case report

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

Silver-Russell syndrome: genetic basis and molecular genetic testing

A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype

Occlusal Characteristics of Individuals with Growth Hormone Deficiency, Idiopathic Short Stature, and Russell-Silver Syndrome

Russell–Silver syndrome due to paternal H19 / IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection

Methylation profiling in individuals with Russell-Silver syndrome

Executive functioning in adolescents and adults with Silver-Russell syndrome

Type 1 collagenopathy presenting with a Russell–Silver phenotype

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