Search Results - "LOHMANN, DIETMAR"

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

“…Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically…”
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The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma by Ketteler, Petra, Hülsenbeck, Isabel, Frank, Mirjam, Schmidt, Börge, Jöckel, Karl-Heinz, Lohmann, Dietmar R.

“…Patients with heritable retinoblastoma are at risk for bilateral retinoblastoma and second primary malignancies (SPMs). The incidence of SPM is significantly…”
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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly by 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.

“…Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a…”
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Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center by Temming, Petra, Arendt, Marina, Viehmann, Anja, Eisele, Lewin, Guin, Claudia H. D., Schündeln, Michael M., Biewald, Eva, Astrahantseff, Kathy, Wieland, Regina, Bornfeld, Norbert, Sauerwein, Wolfgang, Eggert, Angelika, Jöckel, Karl‐Heinz, Lohmann, Dietmar R.

“…Background Survivors of heritable retinoblastoma carry a high risk to develop second cancers. Eye‐preserving radiotherapy raises this risk, while the impact of…”
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Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under Radiotherapy by Kim, Viktoria, Guberina, Maja, Bechrakis, Nikolaos E., Lohmann, Dietmar R., Zeschnigk, Michael, Le Guin, Claudia H. D.

“…PurposeUveal melanoma (UM) is a tumor of the eye that metastasizes in approximately half of cases. Prognostic testing requires accessibility to tumor tissue,…”
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Comparing the Prognostic Value of BAP1 Mutation Pattern, Chromosome 3 Status, and BAP1 Immunohistochemistry in Uveal Melanoma by van de Nes, Johannes A.P, Nelles, Jasmin, Kreis, Stefan, Metz, Claudia H.D, Hager, Thomas, Lohmann, Dietmar R, Zeschnigk, Michael

“…Uveal melanoma (UM), a tumor of the eye, can be divided into 2 major classes correlating with patients’ prognosis. Gene expression profiles and chromosome 3…”
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome by Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar

“…We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS)…”
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Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction by Weaver, K. Nicole, Noack Watt, Kristin E., Hufnagel, Robert B., Acedo, Joaquin Navajas, 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.

“…We report three individuals with a cranioskeletal malformation syndrome we newly define as acrofacial dysostosis, Cincinnati type. Each individual has a…”
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Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations by Pfaff, Elke, Aichmüller, Christian, Sill, Martin, Stichel, Damian, Snuderl, Matija, Karajannis, Matthias A., Schuhmann, Martin U., Schittenhelm, Jens, Hasselblatt, Martin, Thomas, Christian, Korshunov, Andrey, Rhizova, Marina, Wittmann, Andrea, Kaufhold, Anna, Iskar, Murat, Ketteler, Petra, Lohmann, Dietmar, Orr, Brent A., Ellison, David W., von Hoff, Katja, Mynarek, Martin, Rutkowski, Stefan, Sahm, Felix, von Deimling, Andreas, Lichter, Peter, Kool, Marcel, Zapatka, Marc, Pfister, Stefan M., Jones, David T. W.

“…Tumors of the pineal region comprise several different entities with distinct clinical and histopathological features. Whereas some entities predominantly…”
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome by 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.

“…Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial…”
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Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome by Abbassi, Yasaman Arjmand, Le Guin, Claudia, Bornfeld, Norbert, Bechrakis, Nikolaos E., Zeschnigk, Michael, Lohmann, Dietmar R.

“…Uveal melanoma (UM) is a rare tumor originating from melanocytic cells in the eye. Familial aggregation of UM is rare and can occur as part of the tumor…”
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Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma by Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R, Ketteler, Petra

“…Constitutional haploinsufficiency of the gene causes heritable retinoblastoma, a tumor predisposition syndrome. Patients with heritable retinoblastoma develop…”
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How Eye-Preserving Therapy Affects Long-Term Overall Survival in Heritable Retinoblastoma Survivors by Temming, Petra, Arendt, Marina, Viehmann, Anja, Eisele, Lewin, Le Guin, Claudia H D, Schündeln, Michael M, Biewald, Eva, Mäusert, Jennifer, Wieland, Regina, Bornfeld, Norbert, Sauerwein, Wolfgang, Eggert, Angelika, Lohmann, Dietmar R, Jöckel, Karl-Heinz

“…Intraocular retinoblastoma is curable, but survivors with a heritable predisposition are at high risk for second malignancies. Because second malignancies are…”
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EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation by Neumann, Lisa C, Weinhäusel, Andreas, Thomas, Stefanie, Horsthemke, Bernhard, Lohmann, Dietmar R, Zeschnigk, Michael

“…Uveal melanoma (UM) is a rare eye tumor. There are two classes of UM, which can be discriminated by the chromosome 3 status or global mRNA expression profile…”
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders by Di Donato, Nataliya, Guerrini, Renzo, Billington, Charles J, Barkovich, A James, Dinkel, Philine, Freri, Elena, Heide, Michael, Gershon, Elliot S, Gertler, Tracy S, Hopkin, Robert J, Jacob, Suma, Keedy, Sarah K, Kooshavar, Daniz, Lockhart, Paul J, Lohmann, Dietmar R, Mahmoud, Iman G, Parrini, Elena, Schrock, Evelin, Severi, Giulia, Timms, Andrew E, Webster, Richard I, Willis, Mary J H, Zaki, Maha S, Gleeson, Joseph G, Leventer, Richard J, Dobyns, William B

“…Reelin, a large extracellular protein, plays several critical roles in brain development and function. It is encoded by RELN, first identified as the gene…”
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Early detection of metastatic uveal melanoma by the analysis of tumor‐specific mutations in cell‐free plasma DNA by Le Guin, Claudia H. D., Bornfeld, Norbert, Bechrakis, Nikolaos E., Jabbarli, Leyla, Richly, Heike, Lohmann, Dietmar R., Zeschnigk, Michael

“…Background Eye salvaging therapy of malignant melanomas of the uvea can preserve the eye in most cases, but still about half of patients die from metastatic…”
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The human retinoblastoma gene is imprinted by Kanber, Deniz, Berulava, Tea, Ammerpohl, Ole, Mitter, Diana, Richter, Julia, Siebert, Reiner, Horsthemke, Bernhard, Lohmann, Dietmar, Buiting, Karin

“…Genomic imprinting is an epigenetic process leading to parent-of-origin-specific DNA methylation and gene expression. To date, approximately 60 imprinted human…”
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Pediatric second primary malignancies after retinoblastoma treatment by Temming, Petra, Viehmann, Anja, Arendt, Marina, Eisele, Lewin, Spix, Claudia, Bornfeld, Norbert, Sauerwein, Wolfgang, Jöckel, Karl-Heinz, Lohmann, Dietmar R.

“…Background Children with retinoblastoma carry a high risk to develop second primary malignancies in childhood and adolescence. This study characterizes the…”
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Ectopic intracranial retinoblastoma in a 3.5‐month‐old infant without eye involvement and without evidence of heritability by Römer, Tristan, Temming, Petra, Lohmann, Dietmar R., Sturm, Dominik, Deimling, Andreas, Sellhaus, Bernd, Mull, Michael, Kontny, Udo, Moser, Olga

“…Heritable retinoblastoma can rarely be associated with a midline intracranial neuroblastic tumor, referred to as trilateral retinoblastoma. We present an…”
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome by Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie, Lohmann, Dietmar R., Sanchez, Elodie, Bolender, Chantal, Eliot, Marie-Madeleine, Nürnberg, Gudrun, Passos-Bueno, Maria-Rita, Wieczorek, Dagmar, van Maldergem, Lionel, Doray, Bérénice

“…Purpose: Treacher Collins syndrome is a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis. TCOF1 mutations…”
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