Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.
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Silver-Russell syndrome: genetic basis and molecular genetic testingSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyAnderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequenceNo evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation.Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age.Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.Epigenetic and genetic diagnosis of Silver-Russell syndrome.IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance.Epigenotype-phenotype correlations in Silver-Russell syndromeMethylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.Altered DNA methylation patterns of the H19 differentially methylated region and the DAZL gene promoter are associated with defective human sperm.Novel cis-regulatory function in ICR-mediated imprinted repression of H19A network based method for analysis of lncRNA-disease associations and prediction of lncRNAs implicated in diseases.Epigenetic consequences of artificial reproductive technologies to the bovine imprinted genes SNRPN, H19/IGF2, and IGF2RThe effect of preconception paternal alcohol exposure on epigenetic remodeling of the h19 and rasgrf1 imprinting control regions in mouse offspring.Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Progression to adrenocortical tumorigenesis in mice and humans through insulin-like growth factor 2 and β-cateninThe Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndromeSeminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion.[Russell Silver syndrome: report of three cases and review of the literature].New developments in Silver-Russell syndrome and implications for clinical practiceCorrection of the axial and appendicular deformities in a patient with Silver-Russel syndrome.Epigenetic signatures may explain the relationship between socioeconomic position and risk of mental illness: preliminary findings from an urban community-based sample.Clinical spectrum of Silver - Russell syndrome.Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.Association between long non-coding RNA and human rare diseases (Review).Intersections of epigenetics, twinning and developmental asymmetries: insights into monogenic and complex diseases and a role for 3D facial analysis.Non-coding RNAs: biological functions and applications.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Systemic and maxillofacial characteristics of 11 Japanese children with Russell-Silver syndrome.Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome.Abnormal Methylation of Imprinted Genes and Cigarette Smoking: Assessment of Their Association With the Risk of Male Infertility.A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndromeFamilial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.Torticollis as the main presentation in a child with russell-silver syndrome: a case report.Mosaic UPD(7q)mat in a patient with silver Russell syndrome.
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P2860
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Epigenetic mutations of the im ...... h SRS and SRS-like phenotypes.
@en
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome
@nl
type
label
Epigenetic mutations of the im ...... h SRS and SRS-like phenotypes.
@en
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome
@nl
prefLabel
Epigenetic mutations of the im ...... h SRS and SRS-like phenotypes.
@en
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome
@nl
P2093
P50
P356
P1476
Epigenetic mutations of the im ...... th SRS and SRS-like phenotypes
@en
P2093
A Schinzel
D Bartholdi
H Kayserili
P304
P356
10.1136/JMG.2008.061820
P407
P577
2008-12-09T00:00:00Z