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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1868-7083

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders ; volume:14 ; number:1 ; day:7 ; month:11 ; year:2022 ; pages:1-16 ; date:12.2022
Clinical epigenetics ; 14, Heft 1 (7.11.2022), 1-16, 12.2022

Creator: Mackay, Deborah
Bliek, Jet
Kagami, Masayo
Tenorio-Castano, Jair
Pereda, Arrate
Brioude, Frédéric
Netchine, Irène
Papingi, Dzhoy
Franco, Elisa de
Lever, Margaret
Sillibourne, Julie
Lombardi, Paola
Gaston, Véronique
Tauber, Maithé
Diene, Gwenaelle
Bieth, Eric
Fernandez, Luis
Nevado, Julian
Tümer, Zeynep
Riccio, Andrea
Maher, Eamonn R.
Beygo, Jasmin
Tannorella, Pierpaola
Russo, Silvia
Nanclares, Guiomar Perez de
Temple, I. Karen
Ogata, Tsutomu
Lapunzina, Pablo
Eggermann, Thomas

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13148-022-01358-9

URN: urn:nbn:de:101:1-2023012110571289221407

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
Bliek, Jet
Kagami, Masayo
Tenorio-Castano, Jair
Pereda, Arrate
Brioude, Frédéric
Netchine, Irène
Papingi, Dzhoy
Franco, Elisa de
Lever, Margaret
Sillibourne, Julie
Lombardi, Paola
Gaston, Véronique
Tauber, Maithé
Diene, Gwenaelle
Bieth, Eric
Fernandez, Luis
Nevado, Julian
Tümer, Zeynep
Riccio, Andrea
Maher, Eamonn R.
Beygo, Jasmin
Tannorella, Pierpaola
Russo, Silvia
Nanclares, Guiomar Perez de
Temple, I. Karen
Ogata, Tsutomu
Lapunzina, Pablo
Eggermann, Thomas
SpringerLink (Online service)

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

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Other Objects (12)

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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

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

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

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

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

Corrigendum to: Clinical spectrum and management of imprinting disorders

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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

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

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

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