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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  50

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 Cortices

CYTOGENETIC AND GENOME RESEARCH. Bd. 136. H. 4. 2012 S. 278-287



Galetzka, D; Hansmann, T; El Hajj, N et al.

Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer

EPIGENETICS. 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 German

Mol 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 syndrome

GENE. Bd. 508. H. 1. 2012 S. 117-120


Siuda, D; Zechner, U; Prawitt, D et al.

Transcriptional regulation of Nox4 by histone deacetylases

NAUNYN-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 cells

BASIC RESEARCH IN CARDIOLOGY. Bd. 107. H. 5. 2012 S. -



Kim, HG; Kim, HT; Leach, NT et al.

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

AMERICAN 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 GENES

GENETIC 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 Development

CYTOGENETIC 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 Oocytes

MOLECULAR 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 assay

EUROPEAN JOURNAL OF NEUROLOGY. Bd. 18. H. 1. 2011 S. 99-105



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 childhood

INTERNATIONAL 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 cells

MOLECULAR 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 Cells

CELLULAR 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 OOCYTES

REPRODUCTION 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 Literature

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 155A. H. 2. 2011 S. 372-379



El Hajj, N; Zechner, U; Schneider, E et al.

Methylation Status of Imprinted Genes and Repetitive Elements in Sperm DNA from Infertile Males

SEXUAL DEVELOPMENT. Bd. 5. H. 2. 2011 S. 60-69



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/ZW

SEXUAL 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 hypogonadism

JOURNAL OF APPLIED GENETICS. Bd. 52. H. 3. 2011 S. 331-334



Lehnen, H; Schafer, S; Reineke, T et al.

Twin Pregnancies Conceived Spontaneously and by ART (Assisted Reproductive Technologies) - a Retrospective Analysis and Review

GEBURTSHILFE UND FRAUENHEILKUNDE. Bd. 71. H. 8. 2011 S. 669-676



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 disorder

NEUROGENETICS. Bd. 11. H. 1. 2010 S. 81-89



Zovoilis, A; Pantazi, A; Smorag, L et al.

Embryonic stem cell-related miRNAs are involved in differentiation of pluripotent cells originating from the germ line

MOLECULAR 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 ORIGINS

REPRODUCTION 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 Stillbirths

AMERICAN 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 Duplications

AMERICAN 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 Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 152A. H. 8. 2010 S. 2099-2102



Bartsch, O; Kress, W; Kempf, O et al.

Inheritance and Variable Expression in Rubinstein-Taybi Syndrome

AMERICAN 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 mosaicism

EUROPEAN 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



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 oocytes

FERTILITY 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 -> qter

AMERICAN 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 vitro

DIFFERENTIATION. 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 conception

MOLECULAR 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 Mutations

AMERICAN 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 Hippocampus

NEUROPSYCHOBIOLOGY. Bd. 61. H. 4. 2010 S. 188-196