Genetic Syndromes and Imprinting - AILBRY

Results for 'Genetic Syndromes and Imprinting' :

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

Publication Year: 1989

DOI: https://doi.org/10.1038/342281a0

Abstract:

Authors:
- Robert D. Nicholls
- Joan H.M. Knoll
- Merlin G. Butler
- Susan Karam
- Marc Lalande
Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Publication Year: 1998

DOI: https://doi.org/10.1086/301935

Abstract:

Authors:
- Karin Buiting
- Bärbel Dittrich
- Stephanie Groß
- Christina Lich
- Claudia Färber
- Tina Buchholz
- Ellie Smith
- André Reis
- Joachim Bürger
- Markus M. Nöthen
- U. Barth-Witte
- Bart Janssen
- Dvorah Abeliovich
- Israela Lerer
- Ans M.W. van den Ouweland
- Dicky Halley
- Connie Schrander‐Stumpel
- H.J.M. Smeets
- Peter Meinecke
- Sue Malcolm
- Anne Gardner
- Marc Lalande
- Robert D. Nicholls
- K. Friend
- Astrid Schulze
- Gert Matthijs
- Hannaleena Kokkonen
- P Hilbert
- Lionel Van Maldergem
- G. Glóver
- Pablo Carbonell
- P J Willems
- Gabriele Gillessen-Kaesbach
- Bernhard Horsthemke
Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

Publication Year: 2013

DOI: https://doi.org/10.1038/jhg.2013.51

Abstract:

Authors:
- Hidenobu Soejima
- Ken Higashimoto
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes

Publication Year: 2011

DOI: https://doi.org/10.1111/j.1399-0004.2011.01822.x

Abstract:

Authors:
- Julie Demars
- Christine Gicquel
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Publication Year: 2016

DOI: https://doi.org/10.1038/ejhg.2016.45

Abstract:

Authors:
- Katja Eggermann
- Jet Bliek
- Frédéric Brioude
- Elizabeth M. Algar
- Karin Buiting
- Silvia Russo
- Zeynep Tümer
- David Monk
- Gudrun E. Moore
- Thalia Antoniadi
- Fiona MacDonald
- Irène Netchine
- Paolo Lombardi
- Lukas Soellner
- Matthias Begemann
- Dirk Prawitt
- Eamonn R. Maher
- Marcel M.A.M. Mannens
- Andrea Riccio
- Rosanna Weksberg
- Pablo Lapunzina
- Karen Grønskov
- Deborah Mackay
- Thomas Eggermann
Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region

Publication Year: 1999

DOI: https://doi.org/10.1093/hmg/8.5.795

Abstract:

Authors:
- M T Jong
- Adam Carey
- Kim A. Caldwell
- Monica Lau
- Mary Ann Handel
- Daniel J. Driscoll
- Colin L. Stewart
- Eugene M. Rinchik
- Robert D. Nicholls
The DNA methyltransferases of mammals

Publication Year: 2000

DOI: https://doi.org/10.1093/hmg/9.16.2395

Abstract:

Authors:
- Timothy H. Bestor
Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes

Publication Year: 2009

DOI: https://doi.org/10.1159/000207473

Abstract:

Authors:
- Fiorella Gurrieri
- Maria Accadia
Epigenetics: Regulation Through Repression

Publication Year: 1999

DOI: https://doi.org/10.1126/science.286.5439.481

Abstract:

Authors:
- Alan P. Wolffe
- Marjori Matzke
Is there an influence of X‐chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases

Publication Year: 2006

DOI: https://doi.org/10.1111/j.1399-0004.2006.00635.x

Abstract:

Authors:
- Daphne Stemkens
- T Roza
- L Verrij
- Hanna Swaab
- MK Van Werkhoven
- BZ Alizadeh
- R.J. Sinke
- JC Giltay
Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder

Publication Year: 2006

DOI: https://doi.org/10.1016/j.earlhumdev.2006.09.002

Abstract:

Authors:
- O. Dudley
- Françoise Muscatelli
The Genetic Basis of Human Cancer

Publication Year: 1997

DOI: DOI not available

Abstract:

Authors:
- Bert Vogelstein
- Kenneth W. Kinzler
Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes

Publication Year: 2001

DOI: https://doi.org/10.1146/annurev.genom.2.1.153

Abstract:

Authors:
- Robert D. Nicholls
- Jessica L. Knepper
Investigation of the potential role of genetic imprinting in Gilles de la Tourette syndrome

Publication Year: 1994

DOI: https://doi.org/10.1002/ajmg.1320510112

Abstract:

Authors:
- Sarah Furtado
- Oksana Suchowersky
Angelman syndrome: a review of the clinical and genetic aspects

Publication Year: 2003

DOI: https://doi.org/10.1136/jmg.40.2.87

Abstract:

Authors:
- Jill Clayton‐Smith

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Results for 'Genetic Syndromes and Imprinting' :

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region

The DNA methyltransferases of mammals

Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes

Epigenetics: Regulation Through Repression

Is there an influence of X‐chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases

Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder

The Genetic Basis of Human Cancer

Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes

Investigation of the potential role of genetic imprinting in Gilles de la Tourette syndrome

Angelman syndrome: a review of the clinical and genetic aspects

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