New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

Source :

• Human Mutation [ 1059-7794 ] ; 2011-10.

Descripteurs français

• Wicri :
  • topic : Logiciel.

English descriptors

• KwdEn :
  • Allele, Allele frequency, Allele peak, Azzi, Bayes factor, Birth weight, Bliek, Body asymmetry, Bouc, Breakpoint, Centromeric, Centromeric breakpoint, Chromosome, Cnvs, Control subjects, Ctcf, Ctcf binding sites, Defect, Deletion, Demars, Developmental delay, Diabetes institute, Duplication, Familial, Familial history, Fetal, Fetal growth disorders, Fish analysis, Genet, Genetic defects, Genomic, Genomic imprinting, Gicquel, Graphical overview, Growth disorders, Homozygosity, Human mutation, Hybridization, Icr1, Icr1 deletions, Icr1 gain, Icr1 loss, Icr2, Icr2 deletions, Icr2 loss, Igf2, Imprinting, Imprinting control region, Large series, Locus, Maternal allele, Maternal grandfather, Maternal grandmother, Maternally, Methylated, Methylation, Methylation analysis, Methylation defect, Methylation defects, Methylation index, Methylation status, Mutation, Parental, Parental alleles, Parental origin, Partial gain, Paternal, Pericentric, Pericentric inversion, Phenotype, Polymorphism, Postnatal, Postnatal growth retardation, Quantisnp, Quantisnp software, Reproductive technology, Rossignol, Russo, Segmental upids, Sequencing, Snp, Software, Sparago, Supp, Syndrome, Telomeric, Uniparental disomy, Whole domain, Wilms, Wilms tumors.
• Teeft :
  • Allele, Allele frequency, Allele peak, Azzi, Bayes factor, Birth weight, Bliek, Body asymmetry, Bouc, Breakpoint, Centromeric, Centromeric breakpoint, Chromosome, Cnvs, Control subjects, Ctcf, Ctcf binding sites, Defect, Deletion, Demars, Developmental delay, Diabetes institute, Duplication, Familial, Familial history, Fetal, Fetal growth disorders, Fish analysis, Genet, Genetic defects, Genomic, Genomic imprinting, Gicquel, Graphical overview, Growth disorders, Homozygosity, Human mutation, Hybridization, Icr1, Icr1 deletions, Icr1 gain, Icr1 loss, Icr2, Icr2 deletions, Icr2 loss, Igf2, Imprinting, Imprinting control region, Large series, Locus, Maternal allele, Maternal grandfather, Maternal grandmother, Maternally, Methylated, Methylation, Methylation analysis, Methylation defect, Methylation defects, Methylation index, Methylation status, Mutation, Parental, Parental alleles, Parental origin, Partial gain, Paternal, Pericentric, Pericentric inversion, Phenotype, Polymorphism, Postnatal, Postnatal growth retardation, Quantisnp, Quantisnp software, Reproductive technology, Rossignol, Russo, Segmental upids, Sequencing, Snp, Software, Sparago, Supp, Syndrome, Telomeric, Uniparental disomy, Whole domain, Wilms, Wilms tumors.

Abstract

• https://api.istex.fr/document/F105AC2486086418EB306E24BE5AF68A05A3FB8F/fulltext/pdf

Affiliations:

• Australie, France
• Bourgogne, Bourgogne-Franche-Comté, Hauts-de-France, Nord-Pas-de-Calais, Région Bretagne, Île-de-France
• Dijon, Lille, Paris, Rennes
• Université de Bourgogne

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002D42
• to stream Istex, to step Curation: 002D42
• to stream Istex, to step Checkpoint: 000795
• to stream Main, to step Merge: 006752
• to stream Main, to step Curation: 006376

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