Hochschulschrift

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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: 10.1186/s13148-020-00856-y

Event: Veröffentlichung

(where): Aachen

(who): Universitätsbibliothek der RWTH Aachen

(when): 2020

Creator: Eßinger, Carla
Karch, Stephanie
Moog, Ute
Fekete, György
Lengyel, Anna
Pinti, Eva
Eggermann, Thomas
Begemann, Matthias

DOI: 10.18154/RWTH-CONV-243322

URN: urn:nbn:de:101:1-2023040505583040055038

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:01 AM CEST

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Object type

Hochschulschrift

Associated

Eßinger, Carla
Karch, Stephanie
Moog, Ute
Fekete, György
Lengyel, Anna
Pinti, Eva
Eggermann, Thomas
Begemann, Matthias
Universitätsbibliothek der RWTH Aachen

Time of origin

2020

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

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

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

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

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Prenatal testing for Imprinting Disorders : A clinical perspective

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

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Corrigendum to: Clinical spectrum and management of imprinting disorders

Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network

Prenatal testing for Imprinting Disorders : A clinical perspective

Molecular basis of Beckwith – Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice

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

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Corrigendum to: Clinical spectrum and management of imprinting disorders

Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network

Prenatal testing for Imprinting Disorders : A clinical perspective

Molecular basis of Beckwith – Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice

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

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

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Other Objects (12)

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Corrigendum to: Clinical spectrum and management of imprinting disorders

Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network

Prenatal testing for Imprinting Disorders : A clinical perspective

Molecular basis of Beckwith – Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice

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

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Corrigendum to: Clinical spectrum and management of imprinting disorders

Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network

Prenatal testing for Imprinting Disorders : A clinical perspective

Molecular basis of Beckwith – Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice

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

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Corrigendum to: Clinical spectrum and management of imprinting disorders

Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network

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Molecular basis of Beckwith – Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice

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

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