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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
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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
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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
Papaspyrou, K; Mewes, T; Rossmann, H et al.
Head and neck paragangliomas: Report of 175 patients (1989-2010)HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK. Bd. 34. H. 5. 2012 S. 632-637
Schneider, E.; Mayer, S.; El Hajj, N. et al.
Methylation and Expression Analyses of the 7q Autism Susceptibility Locus Genes MEST, COPG2, and TSGA14 in Human and Anthropoid Primate CorticesCYTOGENETIC AND GENOME RESEARCH. Bd. 136. H. 4. 2012 S. 278-287
Smorag, Lukasz; Zheng, Ying; Nolte, Jessica et al.
MicroRNA signature in various cell types of mouse spermatogenesis: Evidence for stage-specifically expressed miRNA-221, -203 and -34b-5p mediated spermatogenesis regulationBIOLOGY OF THE CELL. Bd. 104. H. 11. 2012 S. 677-692
Galetzka, D; Hansmann, T; El Hajj, N et al.
Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancerEPIGENETICS. Bd. 7. H. 1. 2012 S. 47-54
Bartsch, O; Zechner, U; Kirmes, A et al.
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and GermanMol Syndromol 2012. Bd. 3. 2012 S. 76-81
Kidszun, Andre; Fuchs, Anne-Jule; Russo, Alexandra et al.
Skeletal abnormalities of the upper limbs - Neonatal diagnosis of 49,XXXXY syndromeGENE. Bd. 508. H. 1. 2012 S. 117-120
Siuda, D; Zechner, U; Prawitt, D et al.
Transcriptional regulation of Nox4 by histone deacetylasesNAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY. Bd. 385. 2012 S. 91-91
Siuda, D; Zechner, U; El Hajj, N et al.
Transcriptional regulation of Nox4 by histone deacetylases in human endothelial cellsBASIC RESEARCH IN CARDIOLOGY. Bd. 107. H. 5. 2012 S. -
Held, Eva; Salilew-Wondim, Dessie; Linke, Matthias et al.
Transcriptome Fingerprint of Bovine 2-Cell Stage Blastomeres Is Directly Correlated with the Individual Developmental Competence of the Corresponding Sister BlastomereBIOLOGY OF REPRODUCTION. Bd. 87. H. 6. 2012
Kim, HG; Kim, HT; Leach, NT et al.
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial AnomaliesAMERICAN JOURNAL OF HUMAN GENETICS. Bd. 91. H. 1. 2012 S. 56-72
Caglayan, AO; Lechno, S; Gumus, H et al.
A BOY WITH CLASSICAL RUBINSTEIN-TAYBI SYNDROME BUT NO DETECTABLE MUTATION IN THE CREBBP AND EP300 GENESGENETIC COUNSELING. Bd. 22. H. 4. 2011 S. 341-346
Hansmann, T; Heinzmann, J; Wrenzycki, C et al.
Characterization of Differentially Methylated Regions in 3 Bovine Imprinted Genes: A Model for Studying Human Germ-Cell and Embryo DevelopmentCYTOGENETIC AND GENOME RESEARCH. Bd. 132. H. 4. 2011 S. 239-247
Heinzmann, J; Hansmann, T; Herrmann, D et al.
Epigenetic Profile of Developmentally Important Genes in Bovine OocytesMOLECULAR REPRODUCTION AND DEVELOPMENT. Bd. 78. H. 3. 2011 S. 188-201
Klimpe, S; Zibat, A; Zechner, U et al.
Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assayEUROPEAN JOURNAL OF NEUROLOGY. Bd. 18. H. 1. 2011 S. 99-105
Balci, S; Tumer, C; Karaca, C et al.
Familial Ring (18) Mosaicism in a 23-Year-Old Young Adult With 46,XY,r(18) (::p11 -> q21::)/46,XY Karyotype, Intellectual Disability, Motor Retardation and Single Maxillary Incisor and in His Phenotypically Normal Mother, Karyotype 47,XX,+r(18)(::p11 -> q21::)/46,XXAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 155A. H. 5. 2011 S. 1129-1135
Bartsch, O; Schneider, E; Damatova, N et al.
Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome (vol 152A, pg 2103, 2010)AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 155A. H. 7. 2011 S. 1776-1776
Marron, M; Victora, A; Weis, E et al.
Gene expression differences in primary fibroblasts between patients with one and two neoplasms in childhoodINTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. Bd. 28. 2011 S. S19-S19
Khromov, T; Pantakani, DVK; Nolte, J et al.
Global and gene-specific histone modification profiles of mouse multipotent adult germline stem cellsMOLECULAR HUMAN REPRODUCTION. Bd. 17. H. 3. 2011 S. 166-174
Sollfrank, S; Hassoun, R; Papaspyrou, K et al.
IMPACT OF GERMLINE MUTATIONS IN TUMOUR SYNDROME SUSCEPTIBILITY GENES ON THE DEVELOPMENT AND DIGNITY OF PARAGANGLIOMAS (PGL) AND PHAEOCHROMOCYTOMAS (PHAEO)CLINICAL CHEMISTRY AND LABORATORY MEDICINE. Bd. 49. 2011 S. S611-S611
Fatima, A; Xu, GX; Shao, KF et al.
In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem CellsCELLULAR PHYSIOLOGY AND BIOCHEMISTRY. Bd. 28. H. 4. 2011 S. 579-592
Heinzmann, J; Hansmann, T; Wrenzycki, C et al.
INFLUENCE OF IN VITRO MATURATION ON EPIGENETIC MARKS AND GENE EXPRESSION IN BOVINE OOCYTESREPRODUCTION FERTILITY AND DEVELOPMENT. Bd. 23. H. 1. 2011 S. 228-229
Behnecke, A; Hinderhofer, K; Bartsch, O et al.
Intragenic Deletions of IL1RAPL1: Report of Two Cases and Review of the LiteratureAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 155A. H. 2. 2011 S. 372-379
El Hajj, N; Trapphoff, T; Linke, M et al.
Limiting dilution bisulfite (pyro)sequencing reveals parent-specific methylation patterns in single early mouse embryos and bovine oocytesEPIGENETICS. Bd. 6. H. 10. 2011 S. 1176-1188
El Hajj, N; Zechner, U; Schneider, E et al.
Methylation Status of Imprinted Genes and Repetitive Elements in Sperm DNA from Infertile MalesSEXUAL DEVELOPMENT. Bd. 5. H. 2. 2011 S. 60-69
Weis, E; Schoen, H; Victor, A et al.
Reduced mRNA and Protein Expression of the Genomic Caretaker RAD9A in Primary Fibroblasts of Individuals with Childhood and Independent Second CancerPLOS ONE. Bd. 6. H. 10. 2011 S. -
van Belzen, M; Bartsch, O; Lacombe, D et al.
Rubinstein-Taybi syndrome (CREBBP, EP300)EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 19. H. 1. 2011 S. -
Zechner, U; Hameister, H
Sex Chromosomes in Vertebrates: XX/XY against ZZ/ZWSEXUAL DEVELOPMENT. Bd. 5. H. 5. 2011 S. 266-271
Mikelsaar, R; Lissitsina, J; Bartsch, O
Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadismJOURNAL OF APPLIED GENETICS. Bd. 52. H. 3. 2011 S. 331-334
Xu, XB; Pantakani, DVK; Luhrig, S et al.
Stage-Specific Germ-Cell Marker Genes Are Expressed in All Mouse Pluripotent Cell Types and Emerge Early during Induced PluripotencyPLOS ONE. Bd. 6. H. 7. 2011 S. -
Lehnen, H; Schafer, S; Reineke, T et al.
Twin Pregnancies Conceived Spontaneously and by ART (Assisted Reproductive Technologies) - a Retrospective Analysis and ReviewGEBURTSHILFE UND FRAUENHEILKUNDE. Bd. 71. H. 8. 2011 S. 669-676
Doring, Y; Zechner, U; Roos, C et al.
Accelerated Evolution of Fetuin-A (FETUA, also AHSG) is Driven by Positive Darwinian Selection, not GC-Biased Gene ConversionGENE. Bd. 463. H. 1-2. 2010 S. 49-55
Poot, M; Beyer, V; Schwaab, I et al.
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorderNEUROGENETICS. Bd. 11. H. 1. 2010 S. 81-89
Trapphoff, T; El Hajj, N; Zechner, U et al.
DNA integrity, growth pattern, spindle formation, chromosomal constitution and imprinting patterns of mouse oocytes from vitrified pre-antral folliclesHUMAN REPRODUCTION. Bd. 25. H. 12. 2010 S. 3025-3042
Zovoilis, A; Pantazi, A; Smorag, L et al.
Embryonic stem cell-related miRNAs are involved in differentiation of pluripotent cells originating from the germ lineMOLECULAR HUMAN REPRODUCTION. Bd. 16. H. 11. 2010 S. 793-803
Heinzmann, J; Hansmann, T; Wrenzycki, C et al.
EPIGENETIC ANALYSIS OF DEVELOPMENTALLY IMPORTANT GENES IN BOVINE OOCYTES OF DIFFERENT ORIGINSREPRODUCTION FERTILITY AND DEVELOPMENT. Bd. 22. H. 1. 2010 S. 326-327
Pliushch, G; Schneider, E; Weise, D et al.
Extreme Methylation Values of Imprinted Genes in Human Abortions and StillbirthsAMERICAN JOURNAL OF PATHOLOGY. Bd. 176. H. 3. 2010 S. 1084-1090
Bartsch, O; Gebauer, K; Lechno, S et al.
Four Unrelated Patients With Lubs X-Linked Mental Retardation Syndrome and Different Xq28 DuplicationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 152A. H. 2. 2010 S. 305-312
Bartsch, O; Schneider, E; Damatova, N et al.
Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion SyndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 152A. H. 8. 2010 S. 2099-2102
Bartsch, O; Vatter, A; Zechner, U et al.
GJB2 Mutations and Genotype-Phenotype Correlation in 335 Patients from Germany with Nonsyndromic Sensorineural Hearing Loss: Evidence for Additional Recessive Mutations Not Detected by Current MethodsAUDIOLOGY AND NEURO-OTOLOGY. Bd. 15. H. 6. 2010 S. 375-382
Bartsch, O; Kress, W; Kempf, O et al.
Inheritance and Variable Expression in Rubinstein-Taybi SyndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 152A. H. 9. 2010 S. 2254-2261
Jenderny, J; Schmidt, W; Bartsch, O
Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicismEUROPEAN JOURNAL OF PEDIATRICS. Bd. 169. H. 7. 2010 S. 789-793
Kidszun, A; Fuchs, A; Russo, A et al.
Knöcherne Fehlbildungen der oberen Extremität als Leitsymptom eines 49,XXXXY Syndroms beim Neugeborenen [Abstract]MONATSSCHRIFT KINDERHEILKUNDE. Bd. 158. 2010 S. 104-105
Zechner, U; Hermanns, P; Keilmann, A et al.
Mutation analysis of the SLC26A4 gene in 133 patients from Germany with nonsyndromic hearing loss. 21.Jahrestagung Humangenetik,Hamburg,02.-04.03.2010MEDIZINISCHE GENETIK. Bd. 22. H. 1. 2010 S. 126
Steul, K; Bockelmann, S; Bartsch, M et al.
Newborn with limb duplications and other abnormalities in the sense of "Dysorganization-like" Syndrome *.KLINISCHE PADIATRIE. Bd. 222. 2010 S. S93-S94
Haaf, T; Tresch, A; Lambrecht, A et al.
Outcome of intracytoplasmic sperm injection with and without polar body diagnosis of oocytesFERTILITY AND STERILITY. Bd. 93. H. 2. 2010 S. 405-415
Tchirikov, M; Merinsky, A; Strohner, M et al.
Prenatal Diagnosis of a Recombinant Chromosome 7 Resulting in Trisomy 7q11.22 -> qterAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 152A. H. 3. 2010 S. 721-725
Nolte, J; Michelmann, HW; Wolf, M et al.
PSCDGs of mouse multipotent adult germline stem cells can enter and progress through meiosis to form haploid male germ cells in vitroDIFFERENTIATION. Bd. 80. H. 4-5. 2010 S. 184-194
Zechner, U; Pliushch, G; Schneider, E et al.
Quantitative methylation analysis of developmentally important genes in human pregnancy losses after ART and spontaneous conceptionMOLECULAR HUMAN REPRODUCTION. Bd. 16. H. 9. 2010 S. 704-713
Balci, S; Ergun, MA; Lechno, S et al.
Rubinstein-Taybi Syndrome in First Cousins With Different De Novo MutationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 152A. H. 4. 2010 S. 1036-1038
Haege, S; Galetzka, D; Zechner, U et al.
Spatial Learning and Expression Patterns of PP1 mRNA in Mouse HippocampusNEUROPSYCHOBIOLOGY. Bd. 61. H. 4. 2010 S. 188-196