Russell-Silver syndrome
Eggermann, Thomas
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2010)
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Journal Article
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
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.
Published in Nature reviews. Endocrinology (01.04.2018)
Published in Nature reviews. Endocrinology (01.04.2018)
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Journal Article
Cystinuria: an inborn cause of urolithiasis
Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus
Published in Orphanet journal of rare diseases (05.04.2012)
Published in Orphanet journal of rare diseases (05.04.2012)
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Journal Article
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management
Wesseler, Katharina, Kraft, Florian, Eggermann, Thomas
Published in International journal of molecular sciences (28.08.2019)
Published in International journal of molecular sciences (28.08.2019)
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Journal Article
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring
Soellner, Lukas, Begemann, Matthias, Degenhardt, Franziska, Geipel, Annegret, Eggermann, Thomas, Mangold, Elisabeth
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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Journal Article
Corrigendum to “Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals” [NeuroImage volume 49 (2010) 1831-1836]
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
Published in NeuroImage (Orlando, Fla.) (15.08.2024)
Published in NeuroImage (Orlando, Fla.) (15.08.2024)
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Journal Article
Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype
Rübben, Albert, Wahl, Renate Ursula, Eggermann, Thomas, Dahl, Edgar, Ortiz-Brüchle, Nadina, Cacchi, Claudio
Published in PloS one (10.03.2020)
Published in PloS one (10.03.2020)
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Journal Article
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Monk, David, Morales, Joannella, den Dunnen, Johan T., Russo, Silvia, Court, Franck, Prawitt, Dirk, Eggermann, Thomas, Beygo, Jasmin, Buiting, Karin, Tümer, Zeynep
Published in Epigenetics (01.02.2018)
Published in Epigenetics (01.02.2018)
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Journal Article
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management
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
Published in The Journal of pediatrics (01.08.2017)
Published in The Journal of pediatrics (01.08.2017)
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Journal Article
CDKN1C mutations: two sides of the same coin
Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R, Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias
Published in Trends in molecular medicine (01.11.2014)
Published in Trends in molecular medicine (01.11.2014)
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Journal Article
Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome
Neuheuser, Lea, Meyer, Robert, Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas
Published in Molecular and cellular probes (01.04.2019)
Published in Molecular and cellular probes (01.04.2019)
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Journal Article
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas
Published in Journal of Medical Genetics (01.09.2012)
Published in Journal of Medical Genetics (01.09.2012)
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Journal Article
Book Review