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Abbreviation : ICR1
Long Form : imprinting control region 1
No. Year Title Co-occurring Abbreviation
2017 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome. SRS
2017 Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis. BWS, H19-DMR, IC1, IGF2
2015 A novel large deletion of the ICR1 region including H19 and putative enhancer elements. BWS, ICR1-DMR, MS
2015 Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory. ---
2015 Altered gene expression of H19 and IGF2 in placentas from ART pregnancies. ART, ICSI, IVF
2015 Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation. qRT-PCR, SRS
2015 Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome. CBS, DMR, MI, RSS
2015 Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background. SRS
2014 A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature. SRS
10  2014 A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient. BWS, SRS
11  2014 Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. SRS
12  2014 Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome - a Chinese experience. BMI, HtSDS, ICR2, SRS
13  2014 Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome. GOM
14  2014 IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation. IGF2, SRS
15  2014 The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome. BWS
16  2013 Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11. aCGH, CCR, FISH, SRS
17  2013 Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome. CHDs, SRS
18  2013 The degree of H19 hypomethylation in children with Silver-Russel syndrome (SRS) is not associated with the severity of phenotype and the clinical severity score (CSS). CSS, SRS
19  2012 Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. ---
20  2012 IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome. IGF2, SRS
21  2012 Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome. MS-MLPA, SGA, SRS
22  2012 Parthenogenetic embryonic stem cells with H19 siRNA-mediated knockdown as a potential resource for cell therapy. BMP4, ES, ESN, IGF2
23  2012 Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. SRS
24  2011 Silver-Russell syndrome. MS-MLPA, SRS
25  2011 Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome. SRS
26  2010 Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. ---
27  2010 Genetic and epigenetic findings in Silver-Russell syndrome. SRS
28  2010 Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1. ART
29  2010 Loss of IGF2 imprinting is associated with abrogation of long-range intrachromosomal interactions in human cancer cells. ---
30  2010 MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome. Mbd3, SRS
31  2009 A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response. GH, SRS
32  2009 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. SRS
33  2009 No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. SRS
34  2008 Are H19 variants associated with Silver-Russell syndrome? bp, BWS, SRS
35  2008 Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. SRS, UPD
36  2007 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. BMI, LOM, mUPD7, RSS, SDS, SGA
37  2007 No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation. BWS, LOM, mUPD7, SRS, TNDM