Silver-Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retardation and several heterogeneous molecular defects affecting different human genomic loci. In the majority of cases, the molecular defect is the loss of methylation (LOM) of the H19/IGF2 differentially methylated region (DMR, also known as IC1) at the telomeric domain of the 11p15.5 imprinted genes cluster, which causes the altered expression of the growth controlling genes, IGF2 and H19. Very rarely, the LOM also affects the KCNQ1OT1 DMR (also known as IC2) at the centromeric domain, resulting in an SRS phenotype by an unknown mechanism. In this study, we report on two cases with SRS features and a LOM of either IC1 and IC2. In one case, this...
The human 11p15 region is divided into two independent imprinted domains, the H19/IGF2 and CDKN1C/KC...
Background: Differentially methylated regions (DMRs) are associated with many imprinted genes. In mi...
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized b...
Silver-Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retard...
International audienceThe 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal an...
Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition ch...
Silver–Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorp...
International audienceThe imprinted 11p15 region is organized in two domains, each of them under the...
Background: Silver-Russell syndrome (SRS; online inheritance in man 180860) is a low-birth-weight sy...
BACKGROUND: Silver-Russell syndrome (SRS; online inheritance in man 180860) is a low-birth-weight sy...
Abstract Background Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially met...
BACKGROUND: Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease. Alt...
Silver-Russell syndrome (SRS) is characterized by severe intrauterine and postnatal growth retardati...
BACKGROUND: Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated...
Russell-Silver Syndrome (RSS) is a prenatal and postnatal growth retardation syndrome caused mainly ...
The human 11p15 region is divided into two independent imprinted domains, the H19/IGF2 and CDKN1C/KC...
Background: Differentially methylated regions (DMRs) are associated with many imprinted genes. In mi...
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized b...
Silver-Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retard...
International audienceThe 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal an...
Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition ch...
Silver–Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorp...
International audienceThe imprinted 11p15 region is organized in two domains, each of them under the...
Background: Silver-Russell syndrome (SRS; online inheritance in man 180860) is a low-birth-weight sy...
BACKGROUND: Silver-Russell syndrome (SRS; online inheritance in man 180860) is a low-birth-weight sy...
Abstract Background Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially met...
BACKGROUND: Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease. Alt...
Silver-Russell syndrome (SRS) is characterized by severe intrauterine and postnatal growth retardati...
BACKGROUND: Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated...
Russell-Silver Syndrome (RSS) is a prenatal and postnatal growth retardation syndrome caused mainly ...
The human 11p15 region is divided into two independent imprinted domains, the H19/IGF2 and CDKN1C/KC...
Background: Differentially methylated regions (DMRs) are associated with many imprinted genes. In mi...
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized b...