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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Clinical epigenetics, 2022-05, Vol.14 (1), p.71, Article 71

2022

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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Clinical epigenetics, 2020-09, Vol.12 (1), p.139, Article 139

2020

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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

Clinical epigenetics, 2016-03, Vol.8 (23), p.23-23, Article 23

2016

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Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains

Clinical epigenetics, 2021-02, Vol.13 (1), p.30-30, Article 30

2021

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Association of four imprinting disorders and ART

Clinical epigenetics, 2019-02, Vol.11 (1), p.21-21, Article 21

2019

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Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Clinical epigenetics, 2019-03, Vol.11 (1), p.53-53, Article 53

2019

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Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

Clinical epigenetics, 2014-06, Vol.6 (1), p.11-11, Article 11

2014

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Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

Clinical epigenetics, 2016-04, Vol.8 (40), p.40-40, Article 40

2016

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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

Clinical epigenetics, 2020-05, Vol.12 (1), p.63-63, Article 63

2020

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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Clinical epigenetics, 2022-03, Vol.14 (1), p.41, Article 41

2022

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Identification of differentially methylated regions in rare diseases from a single-patient perspective

Clinical epigenetics, 2022-12, Vol.14 (1), p.174-174

2022

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Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

Clinical epigenetics, 2013-12, Vol.5 (1), p.23-23, Article 23

2013

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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Clinical epigenetics, 2019-12, Vol.11 (1), p.190-190, Article 190

2019

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Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny

Clinical epigenetics, 2022-03, Vol.14 (1), p.43-43, Article 43

2022

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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

Clinical epigenetics, 2023-03, Vol.15 (1), p.35-35, Article 35

2023

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Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

Clinical epigenetics, 2020-07, Vol.12 (1), p.1-111, Article 111

2020

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Is ZFP57 binding to H19/IGF2 :IG-DMR affected in Silver-Russell syndrome?

Clinical epigenetics, 2018-02, Vol.10 (1), p.23-23, Article 23

2018

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Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia

Clinical epigenetics, 2022-05, Vol.14 (1), p.64-64, Article 64

2022

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Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

Clinical epigenetics, 2019-02, Vol.11 (1), p.30-30, Article 30

2019

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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Clinical epigenetics, 2022-11, Vol.14 (1), p.1-143, Article 143

2022

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Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Clinical epigenetics, 2016-05, Vol.8 (47), p.47-47, Article 47

2016

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Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Clinical epigenetics, 2016-06, Vol.8 (1), p.69, Article 69

2016

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Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2

Clinical epigenetics, 2019-08, Vol.11 (1), p.113-113, Article 113

2019

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A genome-wide DNA methylation signature for SETD1B-related syndrome

Clinical epigenetics, 2019-11, Vol.11 (1), p.156-156, Article 156

2019

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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains

Association of four imprinting disorders and ART

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Identification of differentially methylated regions in rare diseases from a single-patient perspective

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

Is ZFP57 binding to H19/IGF2 :IG-DMR affected in Silver-Russell syndrome?

Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2

A genome-wide DNA methylation signature for SETD1B-related syndrome

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