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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis ; volume:16 ; number:1 ; day:1 ; month:8 ; year:2024 ; pages:1-19 ; date:12.2024
Clinical epigenetics ; 16, Heft 1 (1.8.2024), 1-19, 12.2024

Creator: Mackay, Deborah J. G.
Gazdagh, Gabriella
Monk, David
Brioude, Frederic
Giabicani, Eloise
Krzyzewska, Izabela M.
Kalish, Jennifer M.
Maas, Saskia M.
Kagami, Masayo
Beygo, Jasmin
Kahre, Tiina
Tenorio-Castano, Jair
Ambrozaitytė, Laima
Burnytė, Birutė
Cerrato, Flavia
Davies, Justin H.
Ferrero, Giovanni Battista
Fjodorova, Olga
Manero-Azua, Africa
Pereda, Arrate
Russo, Silvia
Tannorella, Pierpaola
Temple, Karen I.
Õunap, Katrin
Riccio, Andrea
Nanclares, Guiomar Perez de
Maher, Eamonn R.
Lapunzina, Pablo
Netchine, Irène
Eggermann, Thomas
Bliek, Jet
Tümer, Zeynep

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13148-024-01713-y

URN: urn:nbn:de:101:1-2410250916011.267272578113

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:34 AM CEST

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Associated

Mackay, Deborah J. G.
Gazdagh, Gabriella
Monk, David
Brioude, Frederic
Giabicani, Eloise
Krzyzewska, Izabela M.
Kalish, Jennifer M.
Maas, Saskia M.
Kagami, Masayo
Beygo, Jasmin
Kahre, Tiina
Tenorio-Castano, Jair
Ambrozaitytė, Laima
Burnytė, Birutė
Cerrato, Flavia
Davies, Justin H.
Ferrero, Giovanni Battista
Fjodorova, Olga
Manero-Azua, Africa
Pereda, Arrate
Russo, Silvia
Tannorella, Pierpaola
Temple, Karen I.
Õunap, Katrin
Riccio, Andrea
Nanclares, Guiomar Perez de
Maher, Eamonn R.
Lapunzina, Pablo
Netchine, Irène
Eggermann, Thomas
Bliek, Jet
Tümer, Zeynep
SpringerLink (Online service)

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

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Other Objects (12)

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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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

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