Buelow, Luzie; Lissewski, Christina; Bressel, Rainer et al.
Hydrops, Fetal Pleural Effusions and Chylothorax in Three Patients with CBL MutationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 167A. H. 2. 2015 S. 394-399
Rymen, Daisy; Winter, Julia; Van Hasselt, Peter M. et al.
Key features and clinical variability of COG6-CDGMOLECULAR GENETICS AND METABOLISM. Bd. 116. H. 3. 2015 S. 163-170
Beck, Michael
Lysosomal storage diseases: treatment optionsMEDIZINISCHE GENETIK. Bd. 27. H. 3. 2015 S. 276-281
Wilmanns, C; Katsandris, S; Cooper, A et al.
Morphologie und Progression der Primären Varikose: Die Bedeutung genetischer Varianten der Methylentetrahydrofolatreduktase (MTHFR).Gefässchirurgie. Bd. 20. H. 5. 2015 S. 370-375
Wilmanns, Christoph; Cooper, Alexis; Wockner, Leesa et al.
Morphology and Progression in Primary Varicose Vein Disorder Due to 677C > T and 1298A > C Variants of MTHFREBIOMEDICINE. Bd. 2. H. 2. 2015 S. 158-164
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico et al.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesAMERICAN JOURNAL OF HUMAN GENETICS. Bd. 97. H. 1. 2015 S. 99-110
Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert et al.
Redefining the MED13L syndromeEUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 23. H. 10. 2015 S. 1308-1317
Koehler, Andrea; Demir, Uemmuehan; Kickstein, Eva et al.
A hormone-dependent feedback-loop controls androgen receptor levels by limiting MID1, a novel translation enhancer and promoter of oncogenic signalingMOLECULAR CANCER. Bd. 13. 2014
Vona, Barbara; Neuner, C; El Hajj, Nadi et al.
Disruption of the ATE1 and SLC12A1 genes by balanced translocation in a boy with non-syndromic hearing loss.MOLECULAR SYNDROMOLOGY. Bd. 5. H. 1. 2014 S. 3-10. Article
Pfeiffer, A.; Jaeckel, M.; Lewerenz, J. et al.
Effects of acute and chronic oxidative stress on mitochondrial function and energy metabolismACTA PHYSIOLOGICA. Bd. 210. 2014 S. 206-206
Wolak, S.; Ruecker, B.; Kohlschmidt, N. et al.
Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermiaANAESTHESIST. Bd. 63. H. 8-9. 2014 S. 643-650
Raker, V.; Bacher, N.; Hofmann, C. et al.
IFN-alpha diminishes the suppressive activity of human FOXP3+regulatory T cells via cAMP deprivationJOURNAL OF INVESTIGATIVE DERMATOLOGY. Bd. 134. 2014 S. S2-S2
Raker, V.; Bacher, N.; Hofmann, C. et al.
IFN-alpha inhibits human FOXP3+regulatory T cells through ERK-and PDE4-dependent cAMP repressionEXPERIMENTAL DERMATOLOGY. Bd. 23. H. 3. 2014 S. E26-E26
Luehrig, Sandra; Siamishi, Iliana; Tesmer-Wolf, Marieke et al.
Lrrc34, a Novel Nucleolar Protein, Interacts with Npm1 and Ncl and Has an Impact on Pluripotent Stem CellsSTEM CELLS AND DEVELOPMENT. Bd. 23. H. 23. 2014 S. 2862-2874
Demir, Ummuhan; Koehler, Andrea; Schneider, Rainer et al.
Metformin anti-tumor effect via disruption of the MID1 translational regulator complex and AR downregulation in prostate cancer cellsBMC CANCER. Bd. 14. 2014
Rago, Luciano; Beattie, Robert; Taylor, Verdon et al.
miR379-410 cluster miRNAs regulate neurogenesis and neuronal migration by fine-tuning N-cadherinEMBO JOURNAL. Bd. 33. H. 8. 2014 S. 906-920
Pfeiffer, Annika; Jaeckel, Martin; Lewerenz, Jan et al.
Mitochondrial function and energy metabolism in neuronal HT22 cells resistant to oxidative stressBRITISH JOURNAL OF PHARMACOLOGY. Bd. 171. H. 8. 2014 S. 2147-2158
Reuter, Miriam S.; Musante, Luciana; Hu, Hao et al.
NDST1 Missense Mutations in Autosomal Recessive Intellectual DisabilityAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 164A. H. 11. 2014 S. 2753-2763
Rost, Simone; Bach, Elisa; Neuner, Cordula et al.
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 22. H. 2. 2014 S. 208-215
Aslan, Deniz; Akata, Rustu Fikret; Schroeder, Julia et al.
Oculoectodermal Syndrome: Report of a New Case With a Broad Clinical SpectrumAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 164A. H. 11. 2014 S. 2947-2951
Bickmann, Julia K.; Sollfrank, Stefanie; Schad, Arno et al.
Phenotypic Variability and Risk of Malignancy in SDHC-Linked Paragangliomas: Lessons From Three Unrelated Cases With an Identical Germline Mutation (p.Arg133*)JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. Bd. 99. H. 3. 2014 S. E489-E496
Siuda, D.; Wu, Z.; Chen, Y. et al.
SOCIAL ISOLATION-INDUCED EPIGENETIC CHANGES IN MIDBRAIN OF ADULT MICEJOURNAL OF PHYSIOLOGY AND PHARMACOLOGY. Bd. 65. H. 2. 2014 S. 247-255
Vona, Barbara; Mueller, Tobias; Nanda, Indrajit et al.
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutationsGENETICS IN MEDICINE. Bd. 16. H. 12. 2014 S. 945-953
Schweiger, Susann; Dorn, Stephanie; Fuchs, Melanie et al.
The E3 Ubiquitin Ligase MID1 Catalyzes Ubiquitination and Cleavage of FuJOURNAL OF BIOLOGICAL CHEMISTRY. Bd. 289. H. 46. 2014 S. 31805-31817
Braeutigam, C.; Rago, L.; Rolke, A. et al.
The RNA-binding protein Rbfox2: an essential regulator of EMT-driven alternative splicing and a mediator of cellular invasionONCOGENE. Bd. 33. H. 9. 2014 S. 1082-1092
Schroeder, Julia C.; Laessig, Anne K.; Galetzka, Danuta et al.
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]BEHAVIORAL AND BRAIN FUNCTIONS. Bd. 9. 2013
Lehnen, Harald; Zechner, Ulrich; Haaf, Thomas
Epigenetics of gestational diabetes mellitus and offspring health: the time for action is in early stages of lifeMOLECULAR HUMAN REPRODUCTION. Bd. 19. H. 7. 2013 S. 415-422
Burgdörfer, E; Korenkov, M; Jonas, D et al.
FTO and INSIG2 genotyping combined with metabolic and anthropometric phenotyping of morbidly obese patientsMol Syndromol. Bd. 4. H. 6. 2013 S. 273-279
Miederer, Matthias; Fottner, Christian; Rossmann, Heidi et al.
High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [F-18]fluorodihydroxyphenylalanine PETEUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING. Bd. 40. H. 6. 2013 S. 889-896
Follmann, Johannes; Macchiella, Doris; Whybra, Catharina et al.
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosisGENE. Bd. 531. H. 2. 2013 S. 510-513
Raker, V.; Bacher, N.; Hofmann, C. et al.
IFN-alpha abrogates the regulatory function of human CD4+CD25+FOXP+Treg via MAPK/PDE4 pathway-regulated cAMP repressionJOURNAL OF INVESTIGATIVE DERMATOLOGY. Bd. 133. 2013 S. S2-S2
Raker, V.; Bacher, N.; Hofmann, C. et al.
IFN-alpha disarms human CD4+CD25+FOXP3+regulatory T cells through cAMP repression without alteration of the Treg lineage programEXPERIMENTAL DERMATOLOGY. Bd. 22. H. 3. 2013 S. E24-E24
Shao, Kaifeng; Koch, Carmen; Gupta, Manoj K. et al.
Induced Pluripotent Mesenchymal Stromal Cell Clones Retain Donor-derived Differences in DNA Methylation ProfilesMOLECULAR THERAPY. Bd. 21. H. 1. 2013 S. 240-250
Bacher, Nicole; Raker, Verena; Hofmann, Claudia et al.
Interferon-alpha Suppresses cAMP to Disarm Human Regulatory T CellsCANCER RESEARCH. Bd. 73. H. 18. 2013 S. 5647-5656
El Hajj, Nady; Pliushch, Galyna; Schneider, Eberhard et al.
Metabolic Programming of MEST DNA Methylation by Intrauterine Exposure to Gestational Diabetes MellitusDIABETES. Bd. 62. H. 4. 2013 S. 1320-1328
Bartsch, O; Zechner, U
Novel VANGL 1 Gene Mutations in 144 Slovakian , Romanian and German Patients with Neural Tube DefectsMolecular syndromology. Bd. 3. H. 2. 2013 S. 76-81
Lehnen, H.; Mosblech, N.; Reineke, T. et al.
Prenatal Clinical Assessment of sFlt-1 (Soluble fms-like Tyrosine Kinase-1)/PlGF (Placental Growth Factor) Ratio as a Diagnostic Tool for Preeclampsia, Pregnancy-induced Hypertension, and ProteinuriaGEBURTSHILFE UND FRAUENHEILKUNDE. Bd. 73. H. 5. 2013 S. 440-445
Victor, Anja; Weis, Eva; Messow, Claudia Martina et al.
Searching for Gene Expression Differences in Primary Fibroblasts Between Patients with One and Two Neoplasms in ChildhoodPEDIATRIC HEMATOLOGY AND ONCOLOGY. Bd. 30. H. 1. 2013 S. 33-45
Marquardt, Jens U.; Fischer, Kerstin; Baus, Katharina et al.
Sirtuin-6-Dependent Genetic and Epigenetic Alterations Are Associated With Poor Clinical Outcome in Hepatocellular Carcinoma PatientsHEPATOLOGY. Bd. 58. H. 3. 2013 S. 1054-1064
Wildhardt, Gabriele; Zirn, Birgit; Graul-Neumann, Luitgard M. et al.
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnosticsBMJ OPEN. Bd. 3. H. 3. 2013
Rieusset, Anne; Schaller, Fabienne; Unmehopa, Unga et al.
Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional ConsequencesPLOS GENETICS. Bd. 9. H. 9. 2013
Fatima, Azra; Shao Kaifeng, ?; Dittmann, Sven et al.
The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 PatientsPLOS ONE. Bd. 8. H. 12. 2013
Linke, M.; May, A.; Reifenberg, K. et al.
The Impact of Ovarian Stimulation on the Expression of Candidate Reprogramming Genes in Mouse Preimplantation EmbryosCYTOGENETIC AND GENOME RESEARCH. Bd. 139. H. 2. 2013 S. 71-79
Ziebart, Thomas; Draenert, Florian G.; Galetzka, Danuta et al.
The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genesCLINICAL ORAL INVESTIGATIONS. Bd. 17. H. 1. 2013 S. 123-130
Bräutigam, Christien; Raggioli, Angelo; Winter, Jennifer
The Wnt/beta-catenin pathway regulates the expression of the miR-302 cluster in mouse ESCs and P19 cellsPLoS one. Bd. 8. H. 9. Lawrence, Kan.: PLoS 2013 e75315
Krauß, Sybille; Griesche, Nadine; Jastrzebska, Ewa et al.
Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complexNature communications. Bd. 4. London: Nature Publishing Group 2013 Art. 1511
Tan, Xiaoying; Xu, Xingbo; Elkenani, Manar et al.
Zfp819, a novel KRAB-zinc finger protein, interacts with KAP1 and functions in genomic integrity maintenance of mouse embryonic stem cellsSTEM CELL RESEARCH. Bd. 11. H. 3. 2013 S. 1045-1059
Bartsch, O; Schindler, D; Beyer, V et al.
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12EUROPEAN JOURNAL OF MEDICAL GENETICS. Bd. 55. H. 1. 2012 S. 49-55
Karbach, Julia; Coerdt, Wiltrud; Wagner, Wilfried et al.
Case Report: Noonan Syndrome With Multiple Giant Cell Lesions and Review of the LiteratureAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 158A. H. 9. 2012 S. 2283-2289
Schmeh, I; Ziesel, B; Schwind, M et al.
Dunndarmvolvulus infolge eines mesenterialen zystischen Lymphangioms beim Neugeborenen [Abstract]Monatsschr Kinderheilkd. Bd. 160. H. Spl1. 2012 S. 175