A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
about
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyBehavioural abnormalities in a novel mouse model for Silver Russell Syndrome.Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndromeGenetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesPrenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.New developments in Silver-Russell syndrome and implications for clinical practiceEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.Recent Advances in Imprinting Disorders.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic PatientSomatic uniparental disomy of Chromosome 16p in hemimegalencephaly.Mosaic UPD(7q)mat in a patient with silver Russell syndrome.Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.
P2860
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P2860
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
A prospective study validating ...... ons in Silver-Russell syndrome
@en
type
label
A prospective study validating ...... ons in Silver-Russell syndrome
@en
prefLabel
A prospective study validating ...... ons in Silver-Russell syndrome
@en
P2093
P2860
P1476
A prospective study validating ...... ons in Silver-Russell syndrome
@en
P2093
Eli Lieber
Irène Netchine
Jennifer Salem
Madeleine D Harbison
Nathalie Thibaud
Sandra Chantot-Bastaraud
P2860
P304
P356
10.1136/JMEDGENET-2014-102979
P407
P50
P577
2015-05-07T00:00:00Z