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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: 10.1186/s13148-022-01259-x

Event: Veröffentlichung

(where): Aachen

(who): Universitätsbibliothek der RWTH Aachen

(when): 2022

Creator: Eggermann, Thomas
Yapici, Elzem
Bliek, Jet
Pereda, Arrate
Begemann, Matthias
Russo, Silvia
Tannorella, Pierpaola
Calzari, Luciano
de Nanclares, Guiomar Perez
Lombardi, Paola
Temple, I. Karen
Mackay, Deborah
Riccio, Andrea
Kagami, Masayo
Ogata, Tsutomu
Lapunzina, Pablo
Monk, David
Maher, Eamonn R.
Tümer, Zeynep

DOI: 10.18154/RWTH-CONV-249332

URN: urn:nbn:de:101:1-2022112300375940106553

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:24 AM CEST

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Associated

Eggermann, Thomas
Yapici, Elzem
Bliek, Jet
Pereda, Arrate
Begemann, Matthias
Russo, Silvia
Tannorella, Pierpaola
Calzari, Luciano
de Nanclares, Guiomar Perez
Lombardi, Paola
Temple, I. Karen
Mackay, Deborah
Riccio, Andrea
Kagami, Masayo
Ogata, Tsutomu
Lapunzina, Pablo
Monk, David
Maher, Eamonn R.
Tümer, Zeynep
Universitätsbibliothek der RWTH Aachen

Time of origin

2022

Other Objects (12)

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

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

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

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Prenatal testing for Imprinting Disorders : A clinical perspective

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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

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

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

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

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Prenatal testing for Imprinting Disorders : A clinical perspective

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

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

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

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Other Objects (12)

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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

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

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

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

Prenatal testing for Imprinting Disorders : A clinical perspective

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

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

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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

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

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

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

Prenatal testing for Imprinting Disorders : A clinical perspective

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

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

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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

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

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

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

Prenatal testing for Imprinting Disorders : A clinical perspective

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

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

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

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