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Dietmar Lohmann

Research Profile

Disorders

Genes & Molecular Sequences

Genes, Retinoblastoma

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Publications

TOP 3
Petra Temming; Anja Viehmann; Eva Biewald; Dietmar R Lohmann
Sporadic unilateral retinoblastoma or first sign of bilateral disease?
Jan-Ulrich Schlump; Anja Stein; Hartmut Fritz Woike; Nadja Bogdanova; Nursel H Elcioglu; Ursula Felderhoff-Mueser; Ute Hehr; Tanja Karen; Annette Linz; Dietmar R Lohmann; Claudia Möller-Hartmann; Dagmar Wieczorek
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.
Matthew A Lines; Dietmar R Lohmann; Danielle C Lynch; Jacek Majewski; Caroline Nava; Jeremy Schwartzentruber; G Eda Utine; Dagmar Wieczorek; Roseli Maria Zechi-Ceide; Dennis E Bulman; Almuth Caliebe; Stuart L Douglas; Blanca Gener; Gabriele Gillessen-Kaesbach; Arthur W Grix; Maria Leine Guion-Almeida; Ute Hehr; Denise Horn; Lijia Huang; Usha Kini; Juergen Kohlhase; Dorit Lev; Yasemin Alanay; Geneviève Baujat; Chandree Beaulieu; Detlef Böhm; Kym M Boycott
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

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All Publications

2013: Petra Temming; Anja Viehmann; Eva Biewald; Dietmar R Lohmann
Sporadic unilateral retinoblastoma or first sign of bilateral disease?
The British journal of ophthalmology 2013;97(4):475-80.
2012: Jan-Ulrich Schlump; Anja Stein; Hartmut Fritz Woike; Nadja Bogdanova; Nursel H Elcioglu; Ursula Felderhoff-Mueser; Ute Hehr; Tanja Karen; Annette Linz; Dietmar R Lohmann; Claudia Möller-Hartmann; Dagmar Wieczorek
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.
European journal of pediatrics 2012;171(11):1611-8.
2012: Matthew A Lines; Dietmar R Lohmann; Danielle C Lynch; Jacek Majewski; Caroline Nava; Jeremy Schwartzentruber; G Eda Utine; Dagmar Wieczorek; Roseli Maria Zechi-Ceide; Dennis E Bulman; Almuth Caliebe; Stuart L Douglas; Blanca Gener; Gabriele Gillessen-Kaesbach; Arthur W Grix; Maria Leine Guion-Almeida; Ute Hehr; Denise Horn; Lijia Huang; Usha Kini; Juergen Kohlhase; Dorit Lev; Yasemin Alanay; Geneviève Baujat; Chandree Beaulieu; Detlef Böhm; Kym M Boycott
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
American journal of human genetics 2012;90(2):369-77.
2011: Sebastian Gustmann; Ludger Klein-Hitpass; Harald Stephan; Susanne Weber; Norbert Bornfeld; Marc Kaulisch; Dietmar R Lohmann; Nicole Dünker
Loss at chromosome arm 16q in retinoblastoma: confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region.
Genes, chromosomes & cancer 2011;50(5):327-37.
2011: Lisa C Neumann; Stefanie Thomas; Andreas Weinhaeusel; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.
BMC cancer 2011;11():380.
2011: Johannes G Dauwerse; Jill Dixon; Saskia Seland; Claudia Ruivenkamp; Arie van Haeringen; Lies Hoefsloot; Dorien J M Peters; Agnes Clement-de Boers; Cornelia Daumer-Haas; Robert Maiwald; Christiane Zweier; Bronwyn Kerr; Ana M Cobo; Joaquín F Toral; A Jeannette M Hoogeboom; Dietmar R Lohmann; Ute Hehr; Michael J Dixon; Martijn H Breuning; Dagmar Wieczorek
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nature genetics 2011;43(1):20-2.
2009: Dagmar Wieczorek; Blanca Gener; Ma Jesús Martínez González; Saskia Seland; Sven Fischer; Ute Hehr; Alma Kuechler; Lies Hoefsloot; Nicole de Leeuw; Gabriele Gillessen-Kaesbach; Dietmar R Lohmann
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
American journal of medical genetics. Part A 2009;149A(5):837-43.
2009: Diana Mitter; Diane Rushlow; Inga Nowak; Birgit Ansperger-Rescher; Brenda L Gallie; Dietmar R Lohmann
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.
Familial cancer 2009;8(1):55-8.
2008: Katherine Zhang; Inga Nowak; Diane Rushlow; Brenda L Gallie; Dietmar R Lohmann
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
Human mutation 2008;29(4):475-84.
2008: Harald Stephan; Johannes L Zakrzewski; Réka Bölöni; Corinna Grasemann; Dietmar R Lohmann; Angelika Eggert
Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell lines.
Pediatric blood & cancer 2008;50(2):218-22.
2007: Sandrine Gratias; Harald Rieder; Reinhard Ullmann; Ludger Klein-Hitpass; Stephanie Schneider; Réka Bölöni; Martin Kappler; Dietmar R Lohmann
Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma.
Cancer research 2007;67(1):408-16.
2006: Gordon Nareyeck; Michael Zeschnigk; Gabriele Prescher; Dietmar R Lohmann; Gerasimos Anastassiou
Establishment and characterization of two uveal melanoma cell lines derived from tumors with loss of one chromosome 3.
Experimental eye research 2006;83(4):858-64.
2006: Norbert Bornfeld; Andreas Schüler; Réka Bölöni; Christine Jurklies; Regina Wieland; Wolfgang Sauerwein; Dietmar R Lohmann
[Retinoblastoma].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2006;103(1):59-76; quiz 77-8.
2005: Dietmar R Lohmann; Thomas Häusler; Bernhard Horsthemke; Michael Zeschnigk
Minimal region of deletion on chromosomal arm 3p25.1-p25.2 in uveal melanoma.
Cancer research 2005;65(22):10634; author reply 10634.
2005: P Albrecht; B Ansperger-Rescher; Andreas Schüler; Michael Zeschnigk; B Gallie; Dietmar R Lohmann
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression.
Human mutation 2005;26(5):437-45.
2005: Thomas Häusler; Andreas Stang; Gerasimos Anastassiou; Karl-Heinz Jöckel; Stefanie Mrzyk; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Loss of heterozygosity of 1p in uveal melanomas with monosomy 3.
International journal of cancer. Journal international du cancer 2005;116(6):909-13.
2005: Corinna Grasemann; Sandrine Gratias; Harald Stephan; Andreas Schüler; Alexander Schramm; Ludger Klein-Hitpass; Harald Rieder; Stephanie Schneider; Ferdinand Kappes; Angelika Eggert; Dietmar R Lohmann
Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma.
Oncogene 2005;24(42):6441-9.
2005: Sandrine Gratias; Andreas Schüler; Ludger Klein Hitpass; Harald Stephan; Harald Rieder; Stephanie Schneider; Bernhard Horsthemke; Dietmar R Lohmann
Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation.
International journal of cancer. Journal international du cancer 2005;116(4):555-63.
2005: Boris Zielinski; Sandrine Gratias; Grischa Toedt; Frank Mendrzyk; Daniel E Stange; Bernhard Radlwimmer; Dietmar R Lohmann; Peter Lichter
Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization.
Genes, chromosomes & cancer 2005;43(3):294-301.
2005: Andreas Schüler; S Weber; Markus Neuhäuser; Christine Jurklies; T Lehnert; Heinrich Heimann; G Rudolph; Karl-Heinz Jöckel; Norbert Bornfeld; Dietmar R Lohmann
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.
European journal of cancer (Oxford, England : 1990) 2005;41(5):735-40.
2004: P Albrecht; J Bode; Karin Buiting; A K Prashanth; Dietmar R Lohmann
Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element.
Journal of medical genetics 2004;41(12):e122.
2004: Ozge Altug Teber; Gabriele Gillessen-Kaesbach; Sven Fischer; Stefan Boehringer; Beate Albrecht; Angelika Albert; Mine Arslan-Kirchner; Eric Haan; Monika Hagedorn-Greiwe; Christof Hammans; Wolfram Henn; Georg Klaus Hinkel; Rainer König; Erdmute Kunstmann; Jürgen Kunze; Luitgard M Neumann; Eva-Christina Prott; Anita Rauch; Hans-Dieter Rott; Heide Seidel; Stephanie Spranger; Martin Sprengel; Barbara Zoll; Dietmar R Lohmann; Dagmar Wieczorek
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
European journal of human genetics : EJHG 2004;12(11):879-90.
2004: Dietmar R Lohmann; Brenda L Gallie
Retinoblastoma: revisiting the model prototype of inherited cancer.
American journal of medical genetics. Part C, Seminars in medical genetics 2004;129C(1):23-8.
2004: Michael Zeschnigk; Stefan Boehringer; Elizabeth Ann Price; Zerrin Onadim; Lars Masshöfer; Dietmar R Lohmann
A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus.
Nucleic acids research 2004;32(16):e125.
2003: Dagmar Wieczorek; Ozge Altug Teber; Dietmar R Lohmann; Gabriele Gillessen-Kaesbach
Two brothers with Burn-McKeown syndrome.
Clinical dysmorphology 2003;12(3):171-4.
2003: Frank Tschentscher; Johannes Hüsing; Tanja Hölter; Elisabeth Kruse; Irina Gana Dresen; Karl-Heinz Jöckel; Gerasimos Anastassiou; Harald Schilling; Norbert Bornfeld; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities.
Cancer research 2003;63(10):2578-84.
2003: Michael Zeschnigk; Frank Tschentscher; Christina Lich; Birgit Brandt; Bernhard Horsthemke; Dietmar R Lohmann
Methylation analysis of several tumour suppressor genes shows a low frequency of methylation of CDKN2A and RARB in uveal melanomas.
Comparative and functional genomics 2003;4(3):329-36.
2002: Martina Klutz; Dieter Brockmann; Dietmar R Lohmann
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.
American journal of human genetics 2002;71(1):174-9.
2001: M Genuardi; Martina Klutz; koenraad devriendt; D Caruso; M Stirpe; Dietmar R Lohmann
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
European journal of human genetics : EJHG 2001;9(9):690-4.
2001: Frank Tschentscher; Gabriele Prescher; Douglas E Horsman; Valerie A White; Harald Rieder; Gerasimos Anastassiou; Harald Schilling; Norbert Bornfeld; K U Bartz-Schmidt; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma.
Cancer research 2001;61(8):3439-42.
2001: S Herzog; Dietmar R Lohmann; Karin Buiting; Andreas Schüler; Bernhard Horsthemke; Helga Rehder; Harald Rieder
Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization.
Human genetics 2001;108(2):98-104.
2000: Frank Tschentscher; Gabriele Prescher; Michael Zeschnigk; Bernhard Horsthemke; Dietmar R Lohmann
Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization.
Cancer genetics and cytogenetics 2000;122(1):13-7.
2000: Dietmar R Lohmann; Gabriele Gillessen-Kaesbach
Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome.
Clinical dysmorphology 2000;9(4):301-2.
1999: Michael Zeschnigk; Bernhard Horsthemke; Dietmar R Lohmann
Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays.
Nucleic acids research 1999;27(21):e30.
1999: Michael Zeschnigk; Dietmar R Lohmann; Bernhard Horsthemke
A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus.
Journal of medical genetics 1999;36(10):793-4.
1999: L Schomburg; S Turwitt; Gabriele Prescher; Dietmar R Lohmann; B Horsthemke; Karl Bauer
Human TRH-degrading ectoenzyme cDNA cloning, functional expression, genomic structure and chromosomal assignment.
European journal of biochemistry / FEBS 1999;265(1):415-22.
1999: Dietmar R Lohmann; B Horsthemke
No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma.
European journal of cancer (Oxford, England : 1990) 1999;35(6):1035-6.
1999: Martina Klutz; Bernhard Horsthemke; Dietmar R Lohmann
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
American journal of human genetics 1999;64(2):667-8.
1999: Dietmar R Lohmann
RB1 gene mutations in retinoblastoma.
Human mutation 1999;14(4):283-8.
1998: Harald Rieder; Dietmar R Lohmann; B Poensgen; Barbara Fritz; M Aslan; D Drohm; F J Strombach Angersbach; Helga Rehder
Loss of heterozygosity of the retinoblastoma (RB1) gene in lipomas from a retinoblastoma patient.
Journal of the National Cancer Institute 1998;90(4):324-6.
1998: S Yilmaz; B Horsthemke; Dietmar R Lohmann
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.
Human mutation 1998;12(6):434.
1997: Dietmar R Lohmann; M Gerick; B Brandt; U Oelschläger; B Lorenz; Eberhard Passarge; Bernhard Horsthemke
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
American journal of human genetics 1997;61(2):282-94.
1997: Dietmar R Lohmann; B Brandt; Eberhard Passarge; Bernhard Horsthemke
[Molecular genetics and diagnosis of retinoblastoma. Significance for ophthalmologic practice].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1997;94(4):263-7.
1997: Dietmar R Lohmann; Karin Buiting; Hermann-Josef Lüdecke; Bernhard Horsthemke
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.
Cytogenetics and cell genetics 1997;76(3-4):164-6.
1996: Dietmar R Lohmann; B Brandt; W Höpping; Eberhard Passarge; Bernhard Horsthemke
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
American journal of human genetics 1996;58(5):940-9.
1995: Dietmar R Lohmann; B Brandt; U Oehlschläger; E Göttmann; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Molecular analysis and predictive testing in retinoblastoma.
Ophthalmic genetics 1995;16(4):135-42.
1995: Irene Szijan; Dietmar R Lohmann; D L Parma; B Brandt; B Horsthemke
Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.
Journal of medical genetics 1995;32(6):475-9.
1994: Dietmar R Lohmann; B Brandt; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Spectrum of small length germline mutations in the RB1 gene.
Human molecular genetics 1994;3(12):2187-93.
1994: Dietmar R Lohmann; B Brandt; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
Human genetics 1994;94(4):349-54.
1993: Dietmar R Lohmann; B Fesseler; B Pütz; U Reich; J Böhm; HW Präuer; P H Wünsch; Heinz Höfler
Infrequent mutations of the p53 gene in pulmonary carcinoid tumors.
Cancer research 1993;53(23):5797-801.
1993: Dietmar R Lohmann; A Funk; H P Niedermeyer; S Häupel; Heinz Höfler
Identification of p53 gene mutations in gastrointestinal and pancreatic carcinoids by nonradioisotopic SSCA.
Virchows Archiv. B, Cell pathology including molecular pathology 1993;64(5):293-6.