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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.183-190

2016

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Clinical utility gene card for: Beckwith-Wiedemann Syndrome

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.435-435

2014

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Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1031-1039

2017

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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

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Evidence for anticipation in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1344-1348

2013

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Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.471-472

2018

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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1280-1286

2016

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Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.788-791

2013

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Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1488-1498

2015

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Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.965-969

2013

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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793

2016

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Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

European journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.615-616

2023

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Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2001-06, Vol.9 (6), p.409-418

2001

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A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

European journal of human genetics : EJHG, 2019-11, Vol.27 (11), p.1649-1658

2019

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Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.903-908

2019

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Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia

European journal of human genetics : EJHG, 1994, Vol.2 (1), p.3-23

1994

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Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.965-969

2013

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Hypomethylation at multiple maternally methylated imprinted regions including and loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

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Say what we mean, mean what we say

European journal of human genetics : EJHG, 2006-02, Vol.14 (2), p.149-149

Martin, R A

2006

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Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event

European journal of human genetics : EJHG, 1993, Vol.1 (1), p.19-29

1993

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Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting

European journal of human genetics : EJHG, 1993, Vol.1 (2), p.109-113

1993

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Refined subchromosomal location of 21 expressed sequence tags from unknown genes at region 11p15

European journal of human genetics : EJHG, 1997-07, Vol.5 (4), p.214-217

1997

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A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.447-454

2021

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Wilms tumor in patients with osteopathia striata with cranial sclerosis

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.396-401

2021

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Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.784-787

2013

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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Clinical utility gene card for: Beckwith-Wiedemann Syndrome

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

Evidence for anticipation in Beckwith-Wiedemann syndrome

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

Hypomethylation at multiple maternally methylated imprinted regions including and loci in Beckwith-Wiedemann syndrome

Say what we mean, mean what we say

Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event

Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting

Refined subchromosomal location of 21 expressed sequence tags from unknown genes at region 11p15

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype

Wilms tumor in patients with osteopathia striata with cranial sclerosis

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

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