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Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith―Wiedemann syndrome and Silver―Russell syndrome
Human molecular genetics, 2011-04, Vol.20 (7), p.1363-1374
2011
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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour
Human molecular genetics, 2008-05, Vol.17 (10), p.1427-1435
2008
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Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies
Human reproduction (Oxford), 2009-03, Vol.24 (3), p.741-747
2009
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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
Human molecular genetics, 2012-01, Vol.21 (1), p.10-25
2012
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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
Human molecular genetics, 2014-11, Vol.23 (21), p.5763-5773
2014
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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour
Human molecular genetics, 2007-02, Vol.16 (3), p.254-264
2007
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A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects
The journal of clinical endocrinology and metabolism, 2015-11, Vol.100 (11), p.3963-3966
2015
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Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain
Human molecular genetics, 1995-12, Vol.4 (12), p.2379-2385
1995
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A review of known imprinting syndromes and their association with assisted reproduction technologies
Human reproduction (Oxford), 2008-12, Vol.23 (12), p.2826-2834
2008
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Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome
Human molecular genetics, 2001-07, Vol.10 (15), p.1601-1609
2001
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Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies
Human reproduction (Oxford), 2012-08, Vol.27 (8), p.2541-2548
2012
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Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
Human molecular genetics, 2001-12, Vol.10 (26), p.2989-3000
2001
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Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology
Human reproduction update, 2004-01, Vol.10 (1), p.3-18
2004
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Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise : A report of 11 new cases and a review of the literature
American journal of clinical pathology, 2006-07, Vol.126 (1), p.67-78
2006
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The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster
Human molecular genetics, 2005-02, Vol.14 (4), p.503-511
2005
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Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
Human molecular genetics, 1993-05, Vol.2 (5), p.549-556
1993
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Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation : Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
Human molecular genetics, 2001-03, Vol.10 (5), p.467-476
2001
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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
Human molecular genetics, 2009-12, Vol.18 (24), p.4724-4733
2009
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A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes
The journal of clinical endocrinology and metabolism, 2014-10, Vol.99 (10), p.E2117-E2122
2014
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A survey of assisted reproductive technology births and imprinting disorders
Human reproduction (Oxford), 2007-12, Vol.22 (12), p.3237-3240
2007
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Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith—Wiedemann syndrome
Human molecular genetics, 1995-03, Vol.4 (3), p.395-399
1995
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The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith–Wiedemann region
Human molecular genetics, 2009-11, Vol.18 (22), p.4255-4267
2009
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Sequence and functional comparison in the Beckwith-Wiedemann region : implications for a novel imprinting centre and extended imprinting
Human molecular genetics, 2000-11, Vol.9 (18), p.2691-2706
2000
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Sox-Oct motifs contribute to maintenance of the unmethylated H19 ICR in YAC transgenic mice
Human molecular genetics, 2013-11, Vol.22 (22), p.4627-4637
2013
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Syntenic Organization of the Mouse Distal Chromosome 7 Imprinting Cluster and the Beckwith-Wiedemann Syndrome Region in Chromosome 11p15.5
Human molecular genetics, 1998-07, Vol.7 (7), p.1149-1159
1998
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