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Presence of tumor DNA in aqueous humor is correlated with high risk uveal melanoma
Author / Creator:Barwinski, Nicole ; Lever, Mael ; Rating, Philipp ; Jabbarli, Leyla ; Fiorentzis, Miltiadis ; Bechrakis, Nikolaos E. ; Lohmann, Dietmar R. ; Zeschnigk, Michael ; Le Guin, Claudia H. D.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-06, Vol.15 (1), p.19406-11
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-01, Vol.43 (1), p.20-22
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Early detection of metastatic uveal melanoma by the analysis of tumor‐specific mutations in cell‐free plasma DNA
Author / Creator:Le Guin, Claudia H. D. ; Bornfeld, Norbert ; Bechrakis, Nikolaos E. ; Jabbarli, Leyla ; Richly, Heike ; Lohmann, Dietmar R. ; Zeschnigk, Michael
Publisher:United States: John Wiley & Sons, Inc
Journal title:Cancer medicine (Malden, MA), 2021-09, Vol.10 (17), p.5974-5982
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A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma
Author / Creator:Ryl, Tatsiana ; Afanasyeva, Elena ; Hartmann, Till ; Schwermer, Melanie ; Schneider, Markus ; Schröder, Christopher ; Wagemanns, Maren ; Bister, Arthur ; Kanber, Deniz ; Steenpass, Laura ; Schramm, Kathrin ; Jones, Barbara ; Jones, David T. W. ; Biewald, Eva ; Astrahantseff, Kathy ; Hanenberg, Helmut ; Rahmann, Sven ; Lohmann, Dietmar R. ; Schramm, Alexander ; Ketteler, Petra
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2024-07, Vol.7 (1), p.919-16, Article 919
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Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma
Author / Creator:Ryl, Tatsiana ; Afanasyeva, Elena ; Hartmann, Till ; Schwermer, Melanie ; Schneider, Markus ; Schröder, Christopher ; Wagemanns, Maren ; Bister, Arthur ; Kanber, Deniz ; Steenpass, Laura ; Schramm, Kathrin ; Jones, Barbara ; Jones, David T. W. ; Biewald, Eva ; Astrahantseff, Kathy ; Hanenberg, Helmut ; Rahmann, Sven ; Lohmann, Dietmar R. ; Schramm, Alexander ; Ketteler, Petra
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2024-09, Vol.7 (1), p.1119-1, Article 1119
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Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study
Author / Creator:Lieb, Marietta ; Tagay, Sefik ; Breidenstein, Anja ; Hepp, Tobias ; Le Guin, Claudia H. D. ; Scheel, Jennifer ; Lohmann, Dietmar R. ; Bornfeld, Norbert ; Teufel, Martin ; Erim, Yesim
Publisher:England: BioMed Central Ltd
Journal title:BMC Psychology, 2020-01, Vol.8 (1), p.8-8, Article 8
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EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation
Author / Creator:Neumann, Lisa C ; Weinhäusel, Andreas ; Thomas, Stefanie ; Horsthemke, Bernhard ; Lohmann, Dietmar R ; Zeschnigk, Michael
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2011-08, Vol.11 (1), p.380-380, Article 380
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Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-08, Vol.45 (8), p.933-936
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Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome
Author / Creator:Abbassi, Yasaman Arjmand ; Le Guin, Claudia ; Bornfeld, Norbert ; Bechrakis, Nikolaos E. ; Zeschnigk, Michael ; Lohmann, Dietmar R.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2023-04, Vol.22 (2), p.193-202
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Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma
Author / Creator:Hülsenbeck, Isabel ; Frank, Mirjam ; Biewald, Eva ; Kanber, Deniz ; Lohmann, Dietmar R. ; Ketteler, Petra
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2021-03, Vol.13 (7), p.1605
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-09, Vol.16 (9), p.720-724
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ArticlesPeer ReviewedFull Text
Sporadic unilateral retinoblastoma or first sign of bilateral disease?
Author / Creator:Temming, Petra ; Viehmann, Anja ; Biewald, Eva ; Lohmann, Dietmar R
Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
Journal title:British journal of ophthalmology, 2013-04, Vol.97 (4), p.475-480
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ArticlesPeer ReviewedFull Text
BAP1 germline mutation in two first grade family members with uveal melanoma
Author / Creator:Maerker, David A ; Zeschnigk, Michael ; Nelles, Jasmin ; Lohmann, Dietmar R ; Worm, Karl ; Bosserhoff, Anja K ; Krupar, Rosemarie ; Jägle, Herbert
Publisher:England: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2014-02, Vol.98 (2), p.224-227
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Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2021-04, Vol.13 (8), p.1876
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RB1 gene mutations in retinoblastoma
Author / Creator:Lohmann, Dietmar R.
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 1999-10, Vol.14 (4), p.283-288
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Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma
Author / Creator:Grasemann, Corinna ; Gratias, Sandrine ; Stephan, Harald ; Schüler, Andreas ; Schramm, Alexander ; Klein-Hitpass, Ludger ; Rieder, Harald ; Schneider, Stephanie ; Kappes, Ferdinand ; Eggert, Angelika ; Lohmann, Dietmar R
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2005-09, Vol.24 (42), p.6441-6449
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Retinoblastoma tumorigenesis: genetic and epigenetic changes walk hand in hand
Author / Creator:Temming, Petra ; Corson, Timothy W ; Lohmann, Dietmar R
Publisher:England: Future Medicine Ltd
Journal title:Future oncology (London, England), 2012-05, Vol.8 (5), p.525-528
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Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of th...
Author / Creator:Schlump, Jan-Ulrich ; Stein, Anja ; Hehr, Ute ; Karen, Tanja ; Möller-Hartmann, Claudia ; Elcioglu, Nursel H. ; Bogdanova, Nadja ; Woike, Hartmut Fritz ; Lohmann, Dietmar R. ; Felderhoff-Mueser, Ursula ; Linz, Annette ; Wieczorek, Dagmar
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2012-11, Vol.171 (11), p.1611-1618
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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
Author / Creator:Altug Teber, Özge ; Gillessen-Kaesbach, Gabriele ; Fischer, Sven ; Böhringer, Stefan ; Albrecht, Beate ; Albert, Angelika ; Arslan-Kirchner, Mine ; Haan, Eric ; Hagedorn-Greiwe, Monika ; Hammans, Christof ; Henn, Wolfram ; Hinkel, Georg Klaus ; König, Rainer ; Kunstmann, Erdmute ; Kunze, Jürgen ; Neumann, Luitgard M ; Prott, Eva-Christina ; Rauch, Anita ; Rott, Hans-Dieter ; Seidel, Heide ; Spranger, Stephanie ; Sprengel, Martin ; Zoll, Barbara ; Lohmann, Dietmar R ; Wieczorek, Dagmar
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.879-890
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ArticlesPeer ReviewedFull Text
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma
Author / Creator:Mitter, Diana ; Rushlow, Diane ; Nowak, Inga ; Ansperger-Rescher, Birgit ; Gallie, Brenda L. ; Lohmann, Dietmar R.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2009-03, Vol.8 (1), p.55-58
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Showing 1 to 20 of 25 results

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Presence of tumor DNA in aqueous humor is correlated with high risk uveal melanoma

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

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Early detection of metastatic uveal melanoma by the analysis of tumor‐specific mutations in cell‐free plasma DNA

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A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma

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Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma

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

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

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

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Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome

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

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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

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Sporadic unilateral retinoblastoma or first sign of bilateral disease?

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BAP1 germline mutation in two first grade family members with uveal melanoma

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

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RB1 gene mutations in retinoblastoma

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Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma

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Retinoblastoma tumorigenesis: genetic and epigenetic changes walk hand in hand

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Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of th...

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

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Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma

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