Paternally Inherited IGF2 Mutation and Growth Restriction
Begemann, Matthias, Zirn, Birgit, Santen, Gijs, Wirthgen, Elisa, Soellner, Lukas, Büttel, Hans-Martin, Schweizer, Roland, van Workum, Wilbert, Binder, Gerhard, Eggermann, Thomas
Published in The New England journal of medicine (23.07.2015)
Published in The New England journal of medicine (23.07.2015)
Get full text
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)
Get full text
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)
Get full text
Journal Article
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome
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
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
Get full text
Journal Article
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
Eggermann, Thomas, Heilsberg, Ann-Kathrin, Bens, Susanne, Siebert, Reiner, Beygo, Jasmin, Buiting, Karin, Begemann, Matthias, Soellner, Lukas
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2014)
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2014)
Get full text
Journal Article
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling
Eggermann, Thomas, Brioude, Frédéric, Russo, Silvia, Lombardi, Maria P, Bliek, Jet, Maher, Eamonn R, Larizza, Lidia, Prawitt, Dirk, Netchine, Irène, Gonzales, Marie, Grønskov, Karen, Tümer, Zeynep, Monk, David, Mannens, Marcel, Chrzanowska, Krystyna, Walasek, Malgorzata K, Begemann, Matthias, Soellner, Lukas, Eggermann, Katja, Tenorio, Jair, Nevado, Julián, Moore, Gudrun E, Mackay, Deborah Jg, Temple, Karen, Gillessen-Kaesbach, Gabriele, Ogata, Tsutomu, Weksberg, Rosanna, Algar, Elizabeth, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
Get full text
Journal Article
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci
Begemann, Matthias, Leisten, Isabelle, Soellner, Lukas, Zerres, Klaus, Eggermann, Thomas, Spengler, Sabrina
Published in Epigenetics (01.05.2012)
Published in Epigenetics (01.05.2012)
Get full text
Journal Article
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
Sachwitz, Jana, Strobl-Wildemann, Getrud, Fekete, György, Ambrozaitytė, Laima, Kučinskas, Vaidutis, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas
Published in BMC medical genetics (11.03.2016)
Published in BMC medical genetics (11.03.2016)
Get full text
Journal Article
Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders
Eggermann, Thomas, PhD, Elbracht, Miriam, MD, Schröder, Carmen, MD, Reutter, Heiko, MD, Soellner, Lukas, MSc, Spengler, Sabrina, PhD, Begemann, Matthias, PhD
Published in The Journal of pediatrics (01.10.2013)
Published in The Journal of pediatrics (01.10.2013)
Get full text
Journal Article
Conference Proceeding
De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia
Dworschak, Gabriel C, Engels, Hartmut, Becker, Jessica, Soellner, Lukas, Eggermann, Thomas, Kipfmueller, Florian, Müller, Andreas, Reutter, Heiko, Kreiß, Martina
Published in Frontiers in pediatrics (25.04.2018)
Published in Frontiers in pediatrics (25.04.2018)
Get full text
Journal Article
Mosaicism and uniparental disomy in prenatal diagnosis
Eggermann, Thomas, Soellner, Lukas, Buiting, Karin, Kotzot, Dieter
Published in Trends in molecular medicine (01.02.2015)
Published in Trends in molecular medicine (01.02.2015)
Get full text
Journal Article
Molekulargenetische Diagnostik von Imprinting-Erkrankungen
Eggermann, Thomas, Soellner, Lukas, Bens, Susanne, Spengler, Sabrina, Siebert, Reiner, Buiting, Karin, Horsthemke, Bernhard, Begemann, Matthias
Published in Biospektrum (01.11.2013)
Published in Biospektrum (01.11.2013)
Get full text
Journal Article
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
Soellner, Lukas, Kraft, Florian, Sauer, Sabrina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas
Published in European journal of human genetics : EJHG (01.01.2019)
Published in European journal of human genetics : EJHG (01.01.2019)
Get full text
Journal Article
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.
Published in Nature communications (01.09.2015)
Published in Nature communications (01.09.2015)
Get full text
Journal Article
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour
Gogiel, Magdalena, Begemann, Matthias, Spengler, Sabrina, Soellner, Lukas, Göretzlehner, Ulf, Eggermann, Thomas, Strobl-Wildemann, Gertrud
Published in European journal of human genetics : EJHG (01.07.2013)
Published in European journal of human genetics : EJHG (01.07.2013)
Get full text
Journal Article
NLRP genes and their role in preeclampsia and multi-locus imprinting disorders
Soellner, Lukas, Kopp, Kathrin Maria, Mütze, Sabine, Meyer, Robert, Begemann, Matthias, Rudnik, Sabine, Rath, Werner, Eggermann, Thomas, Zerres, Klaus
Published in Journal of perinatal medicine (23.02.2018)
Published in Journal of perinatal medicine (23.02.2018)
Get full text
Journal Article
Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management
Soellner, Lukas, Monk, David, Rezwan, Faisal I., Begemann, Matthias, Mackay, Deborah, Eggermann, Thomas
Published in Molecular and cellular probes (01.10.2015)
Published in Molecular and cellular probes (01.10.2015)
Get full text
Journal Article