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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
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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
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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
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Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancerEPIGENETICS. Bd. 7. H. 1. 2012 S. 47-54
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Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and GermanMol Syndromol 2012. Bd. 3. 2012 S. 76-81
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Skeletal abnormalities of the upper limbs - Neonatal diagnosis of 49,XXXXY syndromeGENE. Bd. 508. H. 1. 2012 S. 117-120
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Transcriptional regulation of Nox4 by histone deacetylasesNAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY. Bd. 385. 2012 S. 91-91
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Transcriptional regulation of Nox4 by histone deacetylases in human endothelial cellsBASIC RESEARCH IN CARDIOLOGY. Bd. 107. H. 5. 2012 S. -
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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
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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
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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
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Epigenetic Profile of Developmentally Important Genes in Bovine OocytesMOLECULAR REPRODUCTION AND DEVELOPMENT. Bd. 78. H. 3. 2011 S. 188-201
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Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assayEUROPEAN JOURNAL OF NEUROLOGY. Bd. 18. H. 1. 2011 S. 99-105
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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
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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
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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
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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
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Methylation Status of Imprinted Genes and Repetitive Elements in Sperm DNA from Infertile MalesSEXUAL DEVELOPMENT. Bd. 5. H. 2. 2011 S. 60-69
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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. -
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Rubinstein-Taybi syndrome (CREBBP, EP300)EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 19. H. 1. 2011 S. -
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Sex Chromosomes in Vertebrates: XX/XY against ZZ/ZWSEXUAL DEVELOPMENT. Bd. 5. H. 5. 2011 S. 266-271
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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
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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. -
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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
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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
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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
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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
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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
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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
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Spatial Learning and Expression Patterns of PP1 mRNA in Mouse HippocampusNEUROPSYCHOBIOLOGY. Bd. 61. H. 4. 2010 S. 188-196