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Epigenotype-phenotype correlations in Silver-Russell syndrome

Epigenotype-phenotype correlations in Silver-Russell syndrome

http://www.wikidata.org/entity/Q34289562

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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.Epigenetic and genetic diagnosis of Silver-Russell syndrome.Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.Genome-wide methylation analysis in Silver-Russell syndrome patients Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion.Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility New developments in Silver-Russell syndrome and implications for clinical practice EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Role of ART in imprinting disorders Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.Multilocus methylation defects in imprinting disorders.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Role of DNA methylation in imprinting disorders: an updated review.Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome.Torticollis as the main presentation in a child with russell-silver syndrome: a case report.First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.Russel-Silver syndrome: A historical note and comment on an older adult.What are the risks of the assisted reproductive technologies (ART) and how can they be minimized?Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm Wachstumsstörungen als Leitsymptom

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Epigenotype-phenotype correlations in Silver-Russell syndrome

http://www.wikidata.org/entity/Q34289562

description

2010 nî lūn-bûn

@nan

2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի օգոստոսին հրատարակված գիտական հոդված

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2010年の論文

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2010年学术文章

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2010年学术文章

@zh-cn

2010年学术文章

@zh-hans

2010年学术文章

@zh-my

2010年学术文章

@zh-sg

2010年學術文章

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name

Epigenotype-phenotype correlations in Silver-Russell syndrome

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Epigenotype-phenotype correlations in Silver-Russell syndrome

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Epigenotype-phenotype correlations in Silver-Russell syndrome

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type

label

Epigenotype-phenotype correlations in Silver-Russell syndrome

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Epigenotype-phenotype correlations in Silver-Russell syndrome

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Epigenotype-phenotype correlations in Silver-Russell syndrome

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prefLabel

Epigenotype-phenotype correlations in Silver-Russell syndrome

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Epigenotype-phenotype correlations in Silver-Russell syndrome

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Epigenotype-phenotype correlations in Silver-Russell syndrome

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JMG.2010.079111

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Journal of Medical Genetics

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Epigenotype-phenotype correlations in Silver-Russell syndrome

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C L S Turner

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C Willoughby

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D H Lim

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E Forsythe

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E R Maher

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J M Cobben

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M Alders

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Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

Type 2 (non-insulin-dependent) diabetes mellitus: the thrifty phenotype hypothesis

Cognitive abilities associated with the Silver-Russell syndrome.

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.

A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.

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760-768

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scholarly article

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10.1136/JMG.2010.079111

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11

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47

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Deborah Jg Mackay

Isabel Karen Temple

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