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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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The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Journal of medical genetics, 2006-12, Vol.43 (12), p.902-907

2006

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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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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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Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Journal of medical genetics, 2000-12, Vol.37 (12), p.921-926

2000

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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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Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome

Journal of medical genetics, 2005-08, Vol.42 (8), p.648-655

2005

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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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Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

Journal of medical genetics, 1997-05, Vol.34 (5), p.353-359

1997

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Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females

Journal of medical genetics, 1992-04, Vol.29 (4), p.217-220

1992

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The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

Journal of medical genetics, 2007-01, Vol.44 (1), p.59-63

2007

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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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Mosaic uniparental disomy in Beckwith-Wiedemann syndrome

Journal of medical genetics, 1994-10, Vol.31 (10), p.749-753

1994

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Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5)

Journal of medical genetics, 1993-11, Vol.30 (11), p.958-961

1993

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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)

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

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

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

Epigenotype-phenotype correlations in 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

Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome

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

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

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

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5)

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