A Parent-of-Origin Effect in Two Families with Retinoblastoma Is Associated with a Distinct Splice Mutation in the RB1 Gene

per Klutz, Martina, Brockmann, Dieter, Lohmann, Dietmar R.
Publicat 2002

Methylation Analysis of Several Tumour Suppressor Genes Shows a Low Frequency of Methylation of CDKN2A and RARB in Uveal Melanomas

per Zeschnigk, Michael, Tschentscher, Frank, Lich, Christina, Brandt, Birgit, Horsthemke, Bernhard, Lohmann, Dietmar R.
Publicat 2003

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

per Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R., Ketteler, Petra
Publicat a Cancers (Basel) (2021)

A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus

per Zeschnigk, Michael, Böhringer, Stefan, Price, Elizabeth Ann, Onadim, Zerrin, Maßhöfer, Lars, Lohmann, Dietmar R.
Publicat 2004

EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation

per Neumann, Lisa C, Weinhäusel, Andreas, Thomas, Stefanie, Horsthemke, Bernhard, Lohmann, Dietmar R, Zeschnigk, Michael
Publicat 2011

Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study

per Lieb, Marietta, Tagay, Sefik, Breidenstein, Anja, Hepp, Tobias, Le Guin, Claudia H. D., Scheel, Jennifer, Lohmann, Dietmar R., Bornfeld, Norbert, Teufel, Martin, Erim, Yesim
Publicat a BMC Psychol (2020)

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

per Martin, Marcel, Maßhöfer, Lars, Temming, Petra, Rahmann, Sven, Metz, Claudia, Bornfeld, Norbert, van de Nes, Johannes, Klein-Hitpass, Ludger, Hinnebusch, Alan G, Horsthemke, Bernhard, Lohmann, Dietmar R, Zeschnigk, Michael
Publicat a Nat Genet (2013)

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

per Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B., Navajas Acedo, Joaquin, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.
Publicat a Am J Hum Genet (2015)

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

per Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.
Publicat 2012

Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

per Reschke, Madlen, Biewald, Eva, Bronstein, Leo, Brecht, Ines B., Dittner-Moormann, Sabine, Driever, Frank, Ebinger, Martin, Fleischhack, Gudrun, Grabow, Desiree, Geismar, Dirk, Göricke, Sophia, Guberina, Maja, Le Guin, Claudia H. D., Kiefer, Tobias, Kratz, Christian P., Metz, Klaus, Müller, Bert, Ryl, Tatsiana, Schlamann, Marc, Schlüter, Sabrina, Schönberger, Stefan, Schulte, Johannes H., Sirin, Selma, Süsskind, Daniela, Timmermann, Beate, Ting, Saskia, Wackernagel, Werner, Wieland, Regina, Zenker, Martin, Zeschnigk, Michael, Reinhardt, Dirk, Eggert, Angelika, Ritter-Sovinz, Petra, Lohmann, Dietmar R., Bornfeld, Norbert, Bechrakis, Nikolaos, Ketteler, Petra
Publicat a Cancers (Basel) (2021)

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

per Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G., Bhaskar, Sanjeev S., Urquhart, Jill E., Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R., Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas, Burn, John, Lüdecke, Hermann-Josef, Strom, Tim M.
Publicat a Am J Hum Genet (2014)