D. Kanber

发表

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

D. Wieczorek, T. Eggermann, B. Horsthemke, 2017, European Journal of Human Genetics.

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.

A familial disorder of altered DNA-methylation

S. Bens, R. Siebert, B. Korn, 2014, Journal of Medical Genetics.

The Human Retinoblastoma Gene Is Imprinted

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

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

A. Offiah, M. Irving, S. Mohammed, 2010, American journal of medical genetics. Part A.

Low frequency of imprinting defects in ICSI children born small for gestational age

B. Horsthemke, K. Buiting, M. Zeschnigk, 2009, European Journal of Human Genetics.

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

T. Eggermann, G. Binder, B. Horsthemke, 2008, European Journal of Human Genetics.

Molecular testing for imprinting disorders

T. Eggermann, J. Beygo, M. Begemann, 2020, Medizinische Genetik.

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, J. Beygo, S. Ramsden, 2019, European Journal of Human Genetics.

Evidence for correlations between BMI-associated SNPs and circRNAs

C. Dieterich, J. Hebebrand, A. Hinney, 2022, Scientific Reports.

Silver‐Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

R. Siebert, M. Baudis, T. Eggermann, 2011, Clinical genetics.

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

A. Green, T. Eggermann, R. Heller, 2014, European Journal of Human Genetics.

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

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

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

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

Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1.

B. Horsthemke, J. Gromoll, F. Tüttelmann, 2009, International journal of andrology.

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

R. Hochstenbach, D. Wieczorek, J. Giltay, 2009, European Journal of Human Genetics.

Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1

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

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment

R. Siebert, D. Wieczorek, B. Horsthemke, 2016, Epigenetics.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2021, Scientific Reports.

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.

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

S. Bens, C. Kanaka-Gantenbein, C. Sofocleous, 2015, BMC Medical Genetics.

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

R. Siebert, W. Lieb, B. Horsthemke, 2008, Human mutation.

Evolutionary Origin and Methylation Status of Human Intronic CpG Islands that Are Not Present in Mouse

L. Klein-Hitpass, B. Horsthemke, S. Wallner, 2014, Genome biology and evolution.

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

T. Eggermann, B. Albrecht, J. Beygo, 2017, Molecular genetics & genomic medicine.

TFF1 in Aqueous Humor—A Potential New Biomarker for Retinoblastoma

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

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

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

Deciphering the evolutionary origin of the RB1 imprint

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

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

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