עקוב אחר
Matthias Begemann
Matthias Begemann
Institute for Human Genetics and Genomic Medicine / Medical Faculty RWTH Aachen
כתובת אימייל מאומתת בדומיין ukaachen.de - דף הבית
כותרת
צוטט על ידי
צוטט על ידי
שנה
Identification of transcription factor binding sites using ATAC-seq
Z Li, MH Schulz, T Look, M Begemann, M Zenke, IG Costa
Genome biology 20, 1-21, 2019
4532019
Paternally Inherited IGF2 Mutation and Growth Restriction
M Begemann, B Zirn, G Santen, E Wirthgen, L Soellner, HM Büttel, ...
New England Journal of Medicine 373 (4), 349-356, 2015
2342015
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
LE Docherty, FI Rezwan, RL Poole, CLS Turner, E Kivuva, ER Maher, ...
Nature communications 6 (1), 8086, 2015
1792015
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
M Begemann, FI Rezwan, J Beygo, LE Docherty, J Kolarova, C Schroeder, ...
Journal of Medical Genetics 55 (7), 497-504, 2018
1402018
Silver-Russell syndrome: genetic basis and molecular genetic testing
T Eggermann, M Begemann, G Binder, S Spengler
Orphanet journal of rare diseases 5, 1-8, 2010
1232010
Recent advances in imprinting disorders
L Soellner, M Begemann, DJG Mackay, K Grønskov, Z Tümer, ER Maher, ...
Clinical genetics 91 (1), 3-13, 2017
1142017
CDKN1C mutations: two sides of the same coin
T Eggermann, G Binder, F Brioude, ER Maher, P Lapunzina, MV Cubellis, ...
Trends in molecular medicine 20 (11), 614-622, 2014
992014
Clinical significance of copy number variations in the 11p15. 5 imprinting control regions: new cases and review of the literature
M Begemann, S Spengler, M Gogiel, U Grasshoff, M Bonin, RC Betz, ...
Journal of medical genetics 49 (9), 547-553, 2012
902012
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
K Eggermann, J Bliek, F Brioude, E Algar, K Buiting, S Russo, Z Tümer, ...
European Journal of Human Genetics 24 (10), 1377-1387, 2016
862016
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans
G Karsai, F Kraft, N Haag, GC Korenke, B Hänisch, A Othman, ...
The Journal of clinical investigation 129 (3), 1229-1239, 2019
812019
Silver‐Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
M Begemann, S Spengler, D Kanber, A Haake, M Baudis, I Leisten, ...
Clinical genetics 80 (1), 83-88, 2011
802011
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences
M Elbracht, D Mackay, M Begemann, KO Kagan, T Eggermann
Human Reproduction Update 26 (2), 197-213, 2020
752020
Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma
M Begemann, SM Waszak, GW Robinson, N Jäger, T Sharma, C Knopp, ...
Journal of Clinical Oncology 38 (1), 43-50, 2020
682020
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
J Beygo, M Elbracht, K De Groot, M Begemann, D Kanber, K Platzer, ...
European Journal of Human Genetics 23 (2), 180-188, 2015
682015
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
T Eggermann, F Brioude, S Russo, MP Lombardi, J Bliek, ER Maher, ...
European journal of human genetics 24 (6), 784-793, 2016
642016
Silver–Russell syndrome
G Binder, M Begemann, T Eggermann, K Kannenberg
Best Practice & Research Clinical Endocrinology & Metabolism 25 (1), 153-160, 2011
592011
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
T Eggermann, AK Heilsberg, S Bens, R Siebert, J Beygo, K Buiting, ...
Journal of molecular medicine 92, 769-777, 2014
562014
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour
M Gogiel, M Begemann, S Spengler, L Soellner, U Göretzlehner, ...
European Journal of Human Genetics 21 (7), 788-791, 2013
562013
DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift
J Franzen, T Georgomanolis, A Selich, CC Kuo, R Stöger, L Brant, ...
Communications biology 4 (1), 598, 2021
552021
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring
L Soellner, M Begemann, F Degenhardt, A Geipel, T Eggermann, ...
European Journal of Human Genetics 25 (8), 924-929, 2017
532017
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מאמרים 1–20