Search the collection

50 results for Lohmann,+Dietmar

Sort by:

Sort by

Limit results to:

20 per page

50 results for Lohmann,+Dietmar

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations
Author / Creator: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.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2020-02, Vol.139 (2), p.243-257
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
The Human Retinoblastoma Gene Is Imprinted
Author / Creator:Kanber, Deniz ; Berulava, Tea ; Ammerpohl, Ole ; Mitter, Diana ; Richter, Julia ; Siebert, Reiner ; Horsthemke, Bernhard ; Lohmann, Dietmar ; Buiting, Karin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2009-12, Vol.5 (12), p.e1000790
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
The Origin of the RB1 Imprint
Author / Creator:Kanber, Deniz ; Buiting, Karin ; Roos, Christian ; Gromoll, Jörg ; Kaya, Sabine ; Horsthemke, Bernhard ; Lohmann, Dietmar
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-11, Vol.8 (11), p.e81502-e81502
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping
Author / Creator:Dittner-Moormann, Sabine ; Reschke, Madlen ; Biewald, Eva ; Kuechler, Alma ; Klein, Barbara ; Timmermann, Beate ; Lohmann, Dietmar ; Ketteler, Petra ; Kanber, Deniz
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2020-07, Vol.13 (1), p.31-5, Article 31
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1
Author / Creator:Steenpass, Laura ; Kanber, Deniz ; Hiber, Michaela ; Buiting, Karin ; Horsthemke, Bernhard ; Lohmann, Dietmar
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-09, Vol.8 (9), p.e74159-e74159
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 50 results

Export record to excel

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

The Human Retinoblastoma Gene Is Imprinted

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

Sporadic unilateral retinoblastoma or first sign of bilateral disease?

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

The Origin of the RB1 Imprint

Export this record

Export record to excel

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

Export this record

Export record to excel

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping

Export this record

Export record to excel

Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1

Export this record

Export record to excel

RB1 gene mutations in retinoblastoma

Refine your search