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

Por Klutz, Martina, Brockmann, Dieter, Lohmann, Dietmar R.
Publicado em 2002

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

Por Zeschnigk, Michael, Tschentscher, Frank, Lich, Christina, Brandt, Birgit, Horsthemke, Bernhard, Lohmann, Dietmar R.
Publicado em 2003

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

Por Zeschnigk, Michael, Böhringer, Stefan, Price, Elizabeth Ann, Onadim, Zerrin, Maßhöfer, Lars, Lohmann, Dietmar R.
Publicado em 2004

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

Por Neumann, Lisa C, Weinhäusel, Andreas, Thomas, Stefanie, Horsthemke, Bernhard, Lohmann, Dietmar R, Zeschnigk, Michael
Publicado em 2011

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

Por 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
Publicado no Nat Genet (2013)

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

Por 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.
Publicado no Am J Hum Genet (2015)

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

Por 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.
Publicado em 2012

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

Por 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.
Publicado no Am J Hum Genet (2014)