Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics von Eggermann, Thomas

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Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure von Eggermann, Thomas

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Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges von Prawitt, Dirk, Eggermann, Thomas

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Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences von Elbracht, Miriam, Mackay, Deborah, Begemann, Matthias, Kagan, Karl Oliver, Eggermann, Thomas

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Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures von Eggermann, Thomas

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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement von Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R.

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Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family von Eggermann, Thomas, Kadgien, Gundula, Begemann, Matthias, Elbracht, Miriam

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CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants von Krause, Jeremias, Classen, Carlos, Dey, Daniela, Lausberg, Eva, Kessler, Luise, Eggermann, Thomas, Kurth, Ingo, Begemann, Matthias, Kraft, Florian

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Corrigendum to “Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals” [NeuroImage volume 49 (2010) 1831-1836] von Krug, Axel, Nieratschker, Vanessa, Markov, Valentin, Krach, Sören, Jansen, Andreas, Zerres, Klaus, Eggermann, Thomas, Stöcker, Tony, Jon Shah, N., Treutlein, Jens, Mühleisen, Thomas W., Kircher, Tilo

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Cystinuria: an inborn cause of urolithiasis von Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus

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Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring von Soellner, Lukas, Begemann, Matthias, Degenhardt, Franziska, Geipel, Annegret, Eggermann, Thomas, Mangold, Elisabeth

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Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype von Rübben, Albert, Wahl, Renate Ursula, Eggermann, Thomas, Dahl, Edgar, Ortiz-Brüchle, Nadina, Cacchi, Claudio

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11p13 microduplication: a differential diagnosis of Silver-Russell syndrome? von Amin, Asmaa K, Krause, Jeremias, Eggermann, Thomas

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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains von Monk, David, Morales, Joannella, den Dunnen, Johan T., Russo, Silvia, Court, Franck, Prawitt, Dirk, Eggermann, Thomas, Beygo, Jasmin, Buiting, Karin, Tümer, Zeynep

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome von Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Elgizouli, Magdeldin, Schara, Ulrike, Ambrozaityte, Laima, Burnyte, Birute, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Fekete, Gyorgy, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas

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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 von 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

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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Cl... von Meyer, Robert, Soellner, Lukas, MS, Begemann, Matthias, PhD, Dicks, Severin, BS, Fekete, György, MD, Rahner, Nils, MD, Zerres, Klaus, MD, Elbracht, Miriam, MD, Eggermann, Thomas, PhD

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CDKN1C mutations: two sides of the same coin von Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R, Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias

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Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome von Neuheuser, Lea, Meyer, Robert, Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas

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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome von Altmann, Judith, Horn, Denise, Korinth, Dirk, Eggermann, Thomas, Henrich, Wolfgang, Verlohren, Stefan

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