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Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Journal of medical genetics, 2016-01, Vol.53 (1), p.53-61

2016

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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Journal of medical genetics, 2003-01, Vol.40 (1), p.62-64

2003

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Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome

Journal of medical genetics, 2003-11, Vol.40 (11), p.797-801

2003

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Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Journal of medical genetics, 2021-03, Vol.58 (3), p.178

2021

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Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum

Journal of medical genetics, 2024-05, Vol.61 (6), p.590

2024

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Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

Journal of medical genetics, 2021-12, Vol.58 (12), p.842

2021

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Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

Journal of medical genetics, 1999-07, Vol.36 (7), p.518-523

1999

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Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting

Journal of medical genetics, 2021-03, Vol.58 (3), p.173

2021

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Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

Archives of disease in childhood, 2014-10, Vol.99 (10), p.965-967

2014

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Rare association of Beckwith-Wiedemann syndrome with Hirschsprung’s disease in an infant with hypoglycemia

BMJ case reports, 2020-04, Vol.13 (4), p.e235121

2020

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Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome

BMJ case reports, 2021-06, Vol.14 (6), p.e243415

2021

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Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission

Journal of medical genetics, 2014-08, Vol.51 (8), p.502-511

2014

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Beckwith-Wiedemann syndrome

Journal of medical genetics, 1994-07, Vol.31 (7), p.560-564

1994

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A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Journal of medical genetics, 2010-06, Vol.47 (6), p.429-432

2010

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Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

Journal of medical genetics, 2022-02, Vol.59 (2), p.155

2022

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Unilateral leg swelling in an infant

Archives of disease in childhood. Education and practice edition, 2020-04, Vol.105 (2), p.94

2020

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A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Journal of medical genetics, 2023-02, Vol.60 (2), p.134

2023

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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

Journal of medical genetics, 2023-02, Vol.60 (2), p.128

2023

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Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome

Journal of medical genetics, 2007-04, Vol.44 (4), p.257-263

2007

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Oral polyp as the presenting feature of Beckwith-Wiedemann syndrome in a child

BMJ case reports, 2015-08, Vol.2015, p.bcr2015210758

2015

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Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

Journal of medical genetics, 2006-08, Vol.43 (8), p.e39-e39

2006

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Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation

BMJ case reports, 2018-03, Vol.2018, p.bcr-2017-222419

2018

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Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome

Journal of medical genetics, 1993-05, Vol.30 (5), p.353-362

1993

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Refractory postsurgical pyoderma gangrenosum in a patient with Beckwith Wiedemann syndrome: response to multimodal therapy

BMJ case reports, 2013-10, Vol.2013 (oct23 1), p.bcr2013201084-bcr2013201084

2013

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Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

Rare association of Beckwith-Wiedemann syndrome with Hirschsprung’s disease in an infant with hypoglycemia

Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission

Beckwith-Wiedemann syndrome

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

Unilateral leg swelling in an infant

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome

Oral polyp as the presenting feature of Beckwith-Wiedemann syndrome in a child

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation

Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome

Refractory postsurgical pyoderma gangrenosum in a patient with Beckwith Wiedemann syndrome: response to multimodal therapy

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