D. Lohmann

发表

The landscape of genomic alterations across childhood cancers

Michael C. Heinold, David T. W. Jones, R. Eils, 2018, Nature.

Retinoblastoma: Revisiting the model prototype of inherited cancer

B. Gallie, D. Lohmann, 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

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

Stephanie Schneider, L. Klein-Hitpass, A. Eggert, 2005, Oncogene.

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

N. Bornfeld, H. Richly, D. Lohmann, 2021, Cancer medicine.

Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities.

K. Jöckel, N. Bornfeld, E. Kruse, 2003, Cancer research.

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

A. Hinnebusch, N. Bornfeld, L. Klein-Hitpass, 2013, Nature Genetics.

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

D. Steinemann, B. Burkhardt, S. Pfister, 2017, American journal of medical genetics. Part A.

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

David T. W. Jones, M. Kool, P. Lichter, 2019, Acta Neuropathologica.

Deciphering the evolutionary origin of the RB1 imprint

B. Horsthemke, D. Lohmann, C. Roos, 2013, Epigenetics & Chromatin.

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

D. Mitter, L. Klein-Hitpass, K. Õunap, 2011, European Journal of Human Genetics.

Minimal region of deletion on chromosomal arm 3p25.1-p25.2 in uveal melanoma.

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2005, Cancer research.

Loss of heterozygosity of 1p in uveal melanomas with monosomy 3

K. Jöckel, A. Stang, B. Horsthemke, 2005, International journal of cancer.

The Human Retinoblastoma Gene Is Imprinted

R. Siebert, J. Richter, D. Mitter, 2009, PLoS genetics.

How Eye-Preserving Therapy Affects Long-Term Overall Survival in Heritable Retinoblastoma Survivors.

K. Jöckel, N. Bornfeld, A. Eggert, 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

B. Gallie, D. Mitter, D. Lohmann, 2008, Familial Cancer.

Mutational spectrum of the p53 gene in human small-cell lung cancer and relationship to clinicopathological data.

H. Höfler, D. Lohmann, B. Pütz, 1993, The American journal of pathology.

Infrequent mutations of the p53 gene in pulmonary carcinoid tumors.

H. Höfler, D. Lohmann, B. Pütz, 1993, Cancer research.

Neoadjuvant/adjuvant treatment of high-risk retinoblastoma: a report from the German Retinoblastoma Referral Centre

N. Bornfeld, J. Schulte, A. Eggert, 2015, British Journal of Ophthalmology.

Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

K. Devriendt, M. Stirpe, M. Genuardi, 2001, European Journal of Human Genetics.

Loss of heterozygosity of the retinoblastoma (RB1) gene in lipomas from a retinoblastoma patient.

H. Rehder, D. Lohmann, H. Rieder, 1998, Journal of the National Cancer Institute.

The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15.

B. Horsthemke, D. Lohmann, K. Buiting, 1997, Cytogenetics and cell genetics.

Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays.

B. Horsthemke, D. Lohmann, M. Zeschnigk, 1999, Nucleic acids research.

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

B. Horsthemke, D. Lohmann, W. Robinson, 1995, Human Genetics.

RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation

Fabian Kilpert, J. Altmüller, D. Lohmann, 2022, Cancers.

Author Correction: The landscape of genomic alterations across childhood cancers

Michael C. Heinold, David T. W. Jones, R. Eils, 2018, Nature.

Detection of HER-2 oncogene amplification in breast cancer by differential polymerase chain reaction from single cryosections

H. Höfler, K. Friedrichs, D. Lohmann, 1993, Virchows Archiv. B, Cell pathology including molecular pathology.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell lines

A. Eggert, D. Lohmann, C. Grasemann, 2008, Pediatric blood & cancer.

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

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2003, Comparative and functional genomics.

Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization.

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2000, Cancer genetics and cytogenetics.

Identification of p53 gene mutations in gastrointestinal and pancreatic carcinoids by nonradioisotopic SSCA

H. Höfler, D. Lohmann, A. Funk, 1993, Virchows Archiv. B, Cell pathology including molecular pathology.

Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.

B. Horsthemke, D. Lohmann, I. Szijan, 1995, Journal of medical genetics.

Comparing efficacy and side effects of two systemic chemotherapy regimens for eye‐preserving therapy in children with retinoblastoma

Tatsiana Ryl, A. Eggert, M. Ebinger, 2021, Pediatric blood & cancer.

Chemoreduction improves eye retention in patients with retinoblastoma: a report from the German Retinoblastoma Reference Centre

N. Bornfeld, J. Schulte, A. Eggert, 2013, British Journal of Ophthalmology.

[New developments in molecular genetics and treatment of retinoblastoma].

N. Bornfeld, A. Eggert, D. Lohmann, 2011, Klinische Monatsblatter fur Augenheilkunde.

Differentiation Protocol for 3D Retinal Organoids, Immunostaining and Signal Quantitation.

D. Lohmann, L. Steenpass, Alexandra Brenzel, 2020, Current protocols in stem cell biology.

Meningioma 40 Years after Radiation Therapy for Retinoblastoma: Genetic and Phenotypic Analysis, and Minireview of Literature

V. Balik, I. Sulla, D. Lohmann, 2008, Zentralblatt fur Neurochirurgie.

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

B. Horsthemke, D. Lohmann, A. Weinhäusel, 2011, BMC Cancer.

Retinoblastoma tumorigenesis: genetic and epigenetic changes walk hand in hand.

T. Corson, D. Lohmann, P. Temming, 2012, Future oncology.

Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1

B. Horsthemke, D. Lohmann, L. Steenpass, 2013, PloS one.

Establishment and characterization of two uveal melanoma cell lines derived from tumors with loss of one chromosome 3.

D. Lohmann, M. Zeschnigk, G. Anastassiou, 2006, Experimental eye research.

GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma

N. Bornfeld, D. Lohmann, Claudia H D Le Guin, 2019, Cancers.

Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study

N. Bornfeld, D. Lohmann, M. Zeschnigk, 2012, British Journal of Cancer.

The Interdisciplinary Diagnosis and Treatment of Intraocular Tumors.

N. Bornfeld, D. Lohmann, S. Bauer, 2018, Deutsches Arzteblatt international.

Comparing the Prognostic Value of BAP1 Mutation Pattern, Chromosome 3 Status, and BAP1 Immunohistochemistry in Uveal Melanoma

D. Lohmann, M. Zeschnigk, C. Metz, 2016, The American journal of surgical pathology.

Adjuvant therapy for children treated by enucleation at diagnosis of retinoblastoma

J. Schulte, A. Eggert, M. Ebinger, 2023, EJC Paediatric Oncology.

Current Concepts for Diagnosis and Treatment of Retinoblastoma in Germany: Aiming for Safe Tumor Control and Vision Preservation

N. Bornfeld, A. Eggert, D. Lohmann, 2012, Klinische Pädiatrie.

Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center

K. Jöckel, N. Bornfeld, A. Eggert, 2017, Pediatric blood & cancer.

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

N. Bornfeld, D. Reinhardt, Tatsiana Ryl, 2021, Cancers.

DNA methylation-based classification of central nervous system tumours

Till Acker, Pieter Wesseling, Martin Sill, 2018, Nature.

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

B. Lorenz, B. Horsthemke, D. Lohmann, 1997, American journal of human genetics.

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

B. Horsthemke, D. Lohmann, E. Passarge, 1996, American journal of human genetics.

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression

B. Gallie, D. Lohmann, Katherine Zhang, 2008, Human mutation.

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

B. Horsthemke, D. Lohmann, E. Passarge, 1994, Human Genetics.

Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.

W. Lam, P. Boutros, T. Corson, 2013, The Lancet. Oncology.

The Origin of the RB1 Imprint

B. Horsthemke, D. Lohmann, C. Roos, 2013, PloS one.

Imprinting of RB1 (the new kid on the block).

B. Horsthemke, D. Lohmann, K. Buiting, 2010, Briefings in functional genomics.

Loss at chromosome arm 16q in retinoblastoma: Confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region

N. Bornfeld, L. Klein-Hitpass, D. Lohmann, 2011, Genes, chromosomes & cancer.

Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma.

Stephanie Schneider, L. Klein-Hitpass, R. Ullmann, 2007, Cancer research.

RB1 gene mutations in retinoblastoma

D. Lohmann, 1999, Human mutation.

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

H. Höfler, B. Horsthemke, D. Lohmann, 1992, Human Genetics.

Spectrum of small length germline mutations in the RB1 gene.

B. Horsthemke, D. Lohmann, E. Passarge, 1994, Human molecular genetics.

Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma.

K. Bartz-Schmidt, N. Bornfeld, B. Horsthemke, 2001, Cancer research.

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

Stefan Böhringer, Michael Zeschnigk, S. Böhringer, 2004, Nucleic acids research.

Genetics of the Pathophysiology of Retinoblastoma

B. Gallie, D. Lohmann, 2018, eLS.

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

L. Hoefsloot, D. Wieczorek, A. Haeringen, 2011, Nature Genetics.

[Diagnosis and treatment of retinoblastoma: current strategies for effective tumour control and preservation of vision].

N. Bornfeld, A. Eggert, D. Lohmann, 2013, Klinische Monatsblatter fur Augenheilkunde.

Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression

B. Gallie, D. Lohmann, P. Albrecht, 2005, Human mutation.

Detection of chromosomal imbalances in retinoblastoma by matrix‐based comparative genomic hybridization

P. Lichter, D. Stange, D. Lohmann, 2005, Genes, chromosomes & cancer.

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

B. Horsthemke, D. Lohmann, E. Passarge, 1994, Human Genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

Molecular Genetic Approaches to Early Cancer Detection

H. Höfler, D. Lohmann, 1992 .

Author Correction: The landscape of genomic alterations across childhood cancers

Michael C. Heinold, David T. W. Jones, R. Eils, 2018, Nature.

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

D. Lohmann, M. Klutz, D. Brockmann, 2002, American journal of human genetics.

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

H. Rehder, B. Horsthemke, D. Lohmann, 2001, Human Genetics.

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

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European Journal of Human Genetics.

A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.

C. Bloomfield, K. Grzeschik, T. Möröy, 2007, Blood.

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 the literature

D. Wieczorek, D. Lohmann, A. Stein, 2012, European Journal of Pediatrics.

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

P. Maeder, A. Moll, T. Kivelä, 2019, Progress in Retinal and Eye Research.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

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

D. Wieczorek, M. Passos-Bueno, G. Nürnberg, 2014, Genetics in Medicine.

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

D. Wieczorek, D. Lohmann, J. Beygo, 2012, Molecular Syndromology.

Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element

D. Lohmann, J. Bode, K. Buiting, 2004, Journal of Medical Genetics.

Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanoma

N. Bornfeld, M. Scheulen, D. Lohmann, 2013, Cancer medicine.

[Uveal melanoma: current insights into clinical relevance of genetic testing].

N. Bornfeld, D. Lohmann, M. Zeschnigk, 2013, Klinische Monatsblatter fur Augenheilkunde.

No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma.

B. Horsthemke, D. Lohmann, 1999, European journal of cancer.

Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome.

D. Lohmann, G. Gillessen‐kaesbach, G. Gillessen‐Kaesbach, 2000, Clinical dysmorphology.

A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus

B. Horsthemke, D. Lohmann, M. Zeschnigk, 1999, Journal of Medical Genetics.

Trilateral Retinoblastoma in a Patient With Peutz–Jeghers Syndrome

L. Aaltonen, D. Lohmann, P. George, 2013, American journal of medical genetics. Part A.

Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect.

T. Lehnert, K. Jöckel, N. Bornfeld, 2005, European journal of cancer.

Best Practice Guidelines for Molecular Analysis of Retinoblastoma

D. Lohmann, H. Scheffer, B. Gaille, 2002 .

Genomic gains on chromosome 1q in retinoblastoma: Consequences on gene expression and association with clinical manifestation

Stephanie Schneider, B. Horsthemke, D. Lohmann, 2005, International journal of cancer.

Pediatric second primary malignancies after retinoblastoma treatment

K. Jöckel, N. Bornfeld, D. Lohmann, 2015, Pediatric blood & cancer.

Prognostic Testing in Uveal Melanoma

D. Lohmann, M. Zeschnigk, 2013 .

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

D. Wieczorek, K. Sund, C. Lourenço, 2015, American journal of human genetics.

TFF1 in Aqueous Humor—A Potential New Biomarker for Retinoblastoma

D. Lohmann, N. Bechrakis, E. Biewald, 2022, Cancers.

Exact model comparisons in the plausibility framework

Dietmar Lohmann, Stefan Bohringer, D. Lohmann, 2019, Journal of Statistical Planning and Inference.

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

D. Lohmann, M. Frank, E. Biewald, 2021, Cancers.

Molecular analysis and predictive testing in retinoblastoma.

B. Horsthemke, D. Lohmann, E. Passarge, 1995, Ophthalmic genetics.

Hereditary Diffuse Infiltrating Retinoblastoma

D. Lohmann, C. Haritoglou, E. B. Rodrigues, 2014, Ophthalmic genetics.

Retinoblastom

N. Bornfeld, D. Lohmann, N. Bechrakis, 2020, Der Ophthalmologe.

Sporadic unilateral retinoblastoma or first sign of bilateral disease?

D. Lohmann, A. Viehmann, P. Temming, 2013, British Journal of Ophthalmology.

Deciphering the evolutionary origin of the RB1 imprint

B. Horsthemke, D. Lohmann, C. Roos, 2013, Epigenetics & Chromatin.

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

N. Bornfeld, S. Tagay, M. Teufel, 2020, BMC Psychology.

Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults.

D. Lohmann, H. Bouguila, Olfa Baroudi, 2014, Experimental eye research.

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

D. Lohmann, B. Timmermann, A. Kuechler, 2020, Molecular Cytogenetics.

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

H. Friederich, S. Tagay, D. Lohmann, 2016, BMC Cancer.

The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma.

K. Jöckel, D. Lohmann, B. Schmidt, 2020, European journal of cancer.

RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.

B. Horsthemke, D. Lohmann, M. Klutz, 1999, American journal of human genetics.

Two brothers with Burn‐McKeown syndrome

D. Wieczorek, D. Lohmann, G. Gillessen‐kaesbach, 2003, Clinical dysmorphology.

Corrigendum to “Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”” [Prog. Retina Eye Res. 73 (2019) 100764]

P. Maeder, A. Moll, T. Kivelä, 2020, Progress in Retinal and Eye Research.

[Retinoblastoma].

N. Bornfeld, D. Lohmann, E. Biewald, 2020, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

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

A. Bosserhoff, H. Jägle, K. Worm, 2013, British Journal of Ophthalmology.

Accumulation of p53 Protein as an Indicator for p53 Gene Mutation in Breast Cancer: Occurrence of False‐Positives and False‐Negatives

M. Schmitt, H. Graeff, D. Lohmann, 1993, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

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

N. Bornfeld, D. Lohmann, Claudia H D Le Guin, 2022, Familial Cancer.

DNA methylation-based classification of central nervous system tumours

David T. W. Jones, Nils W. Engel, Anne K. Braczynski, 2018, Nature.

The landscape of genomic alterations across childhood cancers

Michael C. Heinold, Jules N. A. Kerssemakers, David C. Jones, 2018, Nature.

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

H. Friederich, S. Tagay, D. Lohmann, 2016, BMC Cancer.

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

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2003, Comparative and Functional Genomics.

Ectopic intracranial retinoblastoma in a 3.5‐month‐old infant without eye involvement and without evidence of heritability

B. Sellhaus, A. von Deimling, U. Kontny, 2019, Pediatric blood & cancer.

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

B. Horsthemke, D. Lohmann, A. Weinhäusel, 2011, BMC Cancer.