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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
Author / Creator:Beygo, Jasmin ; Buiting, Karin ; Ramsden, Simon C. ; Ellis, Rachael ; Clayton-Smith, Jill ; Kanber, Deniz
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1326-1340
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Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
Author / Creator:Beygo, Jasmin ; Grosser, Christian ; Kaya, Sabine ; Mertel, Claudia ; Buiting, Karin ; Horsthemke, Bernhard
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.835-839
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Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
Author / Creator:Beygo, Jasmin ; Bürger, Joachim ; Strom, Tim M. ; Kaya, Sabine ; Buiting, Karin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.903-908
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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
Author / Creator:Eggermann, Katja ; Bliek, Jet ; Brioude, Frédéric ; Algar, Elizabeth ; Buiting, Karin ; Russo, Silvia ; Tümer, Zeynep ; Monk, David ; Moore, Gudrun ; Antoniadi, Thalia ; Macdonald, Fiona ; Netchine, Irène ; Lombardi, Paolo ; Soellner, Lukas ; Begemann, Matthias ; Prawitt, Dirk ; Maher, Eamonn R ; Mannens, Marcel ; Riccio, Andrea ; Weksberg, Rosanna ; Lapunzina, Pablo ; Grønskov, Karen ; Mackay, Deborah JG ; Eggermann, Thomas
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387
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The Human Retinoblastoma Gene Is Imprinted
Author / Creator:Kanber, Deniz ; Berulava, Tea ; Ammerpohl, Ole ; Mitter, Diana ; Richter, Julia ; Siebert, Reiner ; Horsthemke, Bernhard ; Lohmann, Dietmar ; Buiting, Karin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2009-12, Vol.5 (12), p.e1000790
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Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
Author / Creator:Eggermann, Thomas ; Heilsberg, Ann-Kathrin ; Bens, Susanne ; Siebert, Reiner ; Beygo, Jasmin ; Buiting, Karin ; Begemann, Matthias ; Soellner, Lukas
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of molecular medicine (Berlin, Germany), 2014-07, Vol.92 (7), p.769-777
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Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
Author / Creator:Ramsden, Simon C ; Clayton-Smith, Jill ; Birch, Rachael ; Buiting, Karin
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2010-05, Vol.11 (1), p.70-70, Article 70
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Clinical utility gene card for: Angelman Syndrome
Author / Creator:Buiting, Karin ; Clayton-Smith, Jill ; Driscoll, Daniel J ; Gillessen-Kaesbach, Gabriele ; Kanber, Deniz ; Schwinger, Eberhard ; Williams, Charles ; Horsthemke, Bernhard
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.3-3
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Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects
Author / Creator:Beygo, Jasmin ; Ammerpohl, Ole ; Gritzan, Daniela ; Heitmann, Melanie ; Rademacher, Katrin ; Richter, Julia ; Caliebe, Almuth ; Siebert, Reiner ; Horsthemke, Bernhard ; Buiting, Karin
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-10, Vol.8 (10), p.e76953-e76953
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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome
Author / Creator:Beygo, Jasmin ; Joksic, Ivana ; Strom, Tim M ; Lüdecke, Hermann-Josef ; Kolarova, Julia ; Siebert, Reiner ; Mikovic, Zeljko ; Horsthemke, Bernhard ; Buiting, Karin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1280-1286
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The Origin of the RB1 Imprint
Author / Creator:Kanber, Deniz ; Buiting, Karin ; Roos, Christian ; Gromoll, Jörg ; Kaya, Sabine ; Horsthemke, Bernhard ; Lohmann, Dietmar
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-11, Vol.8 (11), p.e81502-e81502
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Identification of Brain-Specific and Imprinted Small Nucleolar RNA Genes Exhibiting an Unusual Genomic Organization
Author / Creator:Cavaillé, Jérôme ; Buiting, Karin ; Kiefmann, Martin ; Lalande, Marc ; Brannan, Camilynn I. ; Horsthemke, Bernhard ; Bachellerie, Jean-Pierre ; Brosius, Jürgen ; Hüttenhofer, Alexander
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2000-12, Vol.97 (26), p.14311-14316
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Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1
Author / Creator:Steenpass, Laura ; Kanber, Deniz ; Hiber, Michaela ; Buiting, Karin ; Horsthemke, Bernhard ; Lohmann, Dietmar
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-09, Vol.8 (9), p.e74159-e74159
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Maintenance of Imprinting and Nuclear Architecture in Cycling Cells
Author / Creator:Teller, Kathrin ; Solovei, Irina ; Buiting, Karin ; Horsthemke, Bernhard ; Cremer, Thomas
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-09, Vol.104 (38), p.14970-14975
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The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
Author / Creator:Eggermann, Thomas ; Oehl‐Jaschkowitz, Barbara ; Dicks, Severin ; Thomas, Wolfgang ; Kanber, Deniz ; Albrecht, Beate ; Begemann, Matthias ; Kurth, Ingo ; Beygo, Jasmin ; Buiting, Karin
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2017-11, Vol.5 (6), p.668-677
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Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Author / Creator:Sassi, Hela ; Elaribi, Yasmina ; Jilani, Houweyda ; Rejeb, Imen ; Hizem, Syrine ; Sebai, Molka ; Kasdallah, Nadia ; Bouthour, Habib ; Hannachi, Samia ; Beygo, Jasmin ; Saad, Ali ; Buiting, Karin ; H’mida Ben‐Brahim, Dorra ; BenJemaa, Lamia
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1796-n/a
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Frequency and characterization of DNA methylation defects in children born SGA
Author / Creator:Bens, Susanne ; Haake, Andrea ; Richter, Julia ; Leohold, Judith ; Kolarova, Julia ; Vater, Inga ; Riepe, Felix G ; Buiting, Karin ; Eggermann, Thomas ; Gillessen-Kaesbach, Gabriele ; Platzer, Konrad ; Prawitt, Dirk ; Caliebe, Almuth ; Siebert, Reiner
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.838-843
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Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects
Author / Creator:Beygo, Jasmin ; Ammerpohl, Ole ; Gritzan, Daniela ; Heitmann, Melanie ; Rademacher, Katrin ; Richter, Julia ; Caliebe, Almuth ; Siebert, Reiner ; Horsthemke, Bernhard ; Buiting, Karin
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2013-12, Vol.8 (12)
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Angelman syndrome — insights into a rare neurogenetic disorder
Author / Creator:Buiting, Karin ; Williams, Charles ; Horsthemke, Bernhard
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Neurology, 2016-10, Vol.12 (10), p.584-593
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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
Author / Creator:Czeschik, Johanna Christina ; Bauer, Peter ; Buiting, Karin ; Dufke, Claudia ; Guillén-Navarro, Encarna ; Johnson, Diana S ; Koehler, Udo ; López-González, Vanesa ; Lüdecke, Hermann-Josef ; Male, Alison ; Morrogh, Deborah ; Rieß, Angelika ; Tzschach, Andreas ; Wieczorek, Dagmar ; Kuechler, Alma
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.146-146, Article 146
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Showing 1 to 20 of 74 results

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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

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Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

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Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

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

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The Human Retinoblastoma Gene Is Imprinted

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Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

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Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

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Clinical utility gene card for: Angelman Syndrome

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Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

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The Origin of the RB1 Imprint

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Identification of Brain-Specific and Imprinted Small Nucleolar RNA Genes Exhibiting an Unusual Genomic Organization

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Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1

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Maintenance of Imprinting and Nuclear Architecture in Cycling Cells

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The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

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Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

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Frequency and characterization of DNA methylation defects in children born SGA

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Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

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Angelman syndrome — insights into a rare neurogenetic disorder

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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

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