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

Get full text

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

Get full text

First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions by Elia Schlaich, Wouter H. G. Hubens, Thomas Eggermann

Get full text

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria by Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth, Thomas Eggermann

Get full text

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation by Florian Kraft, Katharina Wesseler, Matthias Begemann, Ingo Kurth, Miriam Elbracht, Thomas Eggermann

Get full text

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

Get full text

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders by Jasmin Beygo, Claudia Mertel, Sabine Kaya, Gabriele Gillessen-Kaesbach, Thomas Eggermann, Bernhard Horsthemke, Karin Buiting

Get full text

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes by Naomi Baba, Anna Lengyel, Eva Pinti, Elzem Yapici, Isolde Schreyer, Thomas Liehr, György Fekete, Thomas Eggermann

Get full text

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

Get full text

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction by Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann

Get full text

Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling by Martin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, Licinio Manco, Celeste Bento, Thomas Eggermann, Ingo Kurth, Edgar Jost, Tim H. Brümmendorf, Roland Fuchs

Get full text

CTLA-4 Polymorphisms in Patients with IgA Nephropathy Correlate with Proteinuria by Marius Jacob, Kim Ohl, Tannaz Goodarzi, Sigrid Harendza, Thomas Eggermann, Christina Fitzner, Ralf-Dieter Hilgers, Anna Bolte, Jürgen Floege, Thomas Rauen, Klaus Tenbrock

Get full text

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans. by Julia Kolarova, Ole Ammerpohl, Jana Gutwein, Maik Welzel, Inka Baus, Felix G Riepe, Thomas Eggermann, Almuth Caliebe, Paul-Martin Holterhus, Reiner Siebert, Susanne Bens

Get full text

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia by Gabriel C. Dworschak, Gabriel C. Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann, Florian Kipfmueller, Andreas Müller, Heiko Reutter, Heiko Reutter, Martina Kreiß

Get full text

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives by Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C S Hokken-Koelega, Miriam Elbracht, Thomas Eggermann

Get full text

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

Get full text

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains by David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders

Get full text

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach by Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann

Get full text

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

Get full text

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) by Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN

Get full text