Research Topics
Genomes and GenesSpecies | Holger TonniesSummaryAffiliation: Humboldt University Country: Germany Publications
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Detail Information
Publications
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failureBernd Gruhn
Department of Pediatrics, University of Jena, Kochstr, 2, D 07740 Jena, Germany
Orphanet J Rare Dis 2:5. 2007..The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen breakage syndrome, and Fanconi anemia. Thus the clinical diagnosis is often delayed and established by exclusion...
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnosticsH Tonnies
Department of Human Genetics, Charite, Campus Virchow, Humboldt University, Berlin, Germany
Cytogenet Cell Genet 93:188-94. 2001..Additionally, CGH refined the description of the aberrant chromosome segments allowing us to further characterize the underlying mechanisms involved...- Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniquesH Tonnies
Institute of Human Genetics, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
Cytogenet Genome Res 103:28-33. 2003.... - Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literatureHolger Tonnies
Institute of Human Genetics, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
Am J Med Genet A 121:163-7. 2003.... - First systematic CGH-based analyses of ancient DNA samples of malformed fetuses preserved in the Meckel Anatomical Collection in Halle/Saale (Germany)H Tonnies
Institut fur Humangenetik, Campus Virchow Klinikum, Charite, Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
J Histochem Cytochem 53:381-4. 2005.... - Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13H Tonnies
Institute of Human Genetics, Charite, Universitatsmedizin Berlin, Berlin, Germany
Cytogenet Genome Res 114:325-9. 2006..BAC-FISH confirmed the cytogenetic localization of the neocentromere in band 13q31.3. Thus the patient had a mosaic conventional karyotype mos 47,XX,+inv dup(13)(qter-->q21.3::q21.3-->q31.3-->neo-->q31.3-->qter)[6]/46,XX [49]... - Modern molecular cytogenetic techniques in genetic diagnosticsHolger Tonnies
Charite, Campus Virchow, Institute of Human Genetics, Humboldt University Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
Trends Mol Med 8:246-50. 2002..This review gives a brief overview of the different molecular cytogenetic FISH techniques and applications currently used in routine genetic diagnostics and focus on their advantages and limitations... - Association of genomic imbalances with drug resistance and thermoresistance in human gastric carcinoma cellsHolger Tonnies
Institute of Human Genetics, Humboldt University Berlin, Charite Campus Virchow Klinikum, Berlin, Germany
Int J Cancer 103:752-8. 2003..The importance of these cell variant-specific genomic imbalances in the development of MDR and thermoresistance is discussed and remains to be elucidated... - Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosisMarkus Stumm
Zentrum für Pränataldiagnostik Kudamm 199, Berlin, Germany
Prenat Diagn 27:475-8. 2007..Conventional cytogenetic and molecular cytogenetic techniques were applied to determine the correct karyotype of the affected fetus... - Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn
Institute of Human Genetics, Charite, Humboldt University, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Med Genet A 117:236-44. 2003..Our results reinforce the role of cryptic subtelomeric rearrangements in patients with mental retardation associated with physical anomalies and stress the importance of FISH technology to supplement routine cytogenetics... 
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGHEva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
Eur J Pediatr 167:903-8. 2008..We present a genotype-phenotype correlation and comparison with patients from the literature...- A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2Eva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A 140:873-7. 2006..This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p... - Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3Denise Horn
Institute of Human Genetics, Charite, Humboldt University Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Med Genet A 128:85-92. 2004..Our results stress the importance of 7q36 deletion studies by FISH in patients with microsigns of the HPE spectrum... 
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU geneAlmuth Caliebe
Institute of Human Genetics, University Hospital Schleswig Holstein Campus Kiel, Christian Albrechts University, Kiel, Germany
Eur J Med Genet 53:179-85. 2010..Moreover, to reconcile the variability in the corpus callosum thickness, additional mechanisms, such as unmasking of hemizygous mutations, position effects and possible interactions with other loci need consideration...- A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformationSusanne Bens
Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig Holstein, Campus Kiel, Germany
Eur J Med Genet 54:e501-4. 2011..A possible genotype-phenotype correlation is provided based on literature review and comparison of our patient to the previously reported patients with overlapping or partly overlapping copy number variations in 19p13.11... - [Molecular-cytogenetic analysis of ancient DNA (aDNA) from preparations from the Meckel collection in Halle (Saale)]Holger Tonnies
Institut fur Humangenetik, Humboldt Universitat Berlin, Charite Campus Virchow Klinikum, Augustenburger Platz 1, D 13353 Berlin
Ann Anat 184:541-5. 2002 - Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 geneEva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Hum Genet 14:1274-9. 2006..We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes... - Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13Marc Trimborn
Institute of Human Genetics, Charité Universitary Medicine Berlin, Campus Virchow, Humboldt University, Berlin, Germany
Prenat Diagn 26:273-6. 2006..After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima... - Chromosomal imbalances associated with drug resistance and thermoresistance in human pancreatic carcinoma cellsHolger Tonnies
Institute of Human Genetics, Humboldt University Berlin, Charite Campus Virchow Klinikum, Berlin, Germany
Eur J Cell Biol 83:591-601. 2004..The importance of these cell variant-specific genomic imbalances in the development of MDR and thermoresistance is discussed and remains to be elucidated... - Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factorHolger Tonnies
Institute of Human Genetics, Charite, Campus Virchow, Humboldt University, Berlin, Germany
Blood 101:3872-4. 2003..Thus, our data from 18 patients with 3q aberrations reveal that gains of 3q are strongly associated with a poor prognosis and represent an adverse risk factor in FA... - Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive conditionHeidemarie Neitzel
Institute of Human Genetics, Charite, Campus Virchow, Humboldt University Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Hum Genet 70:1015-22. 2002..The rates of sister chromatid exchanges and the mitotic nondisjunction rates were inconspicuous. Premature entry of cells into mitosis suggests that a gene involved in cell-cycle regulation is mutated in these siblings... - New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bankHolger Tonnies
Institute of Human Genetics, Charite Campus Virchow, Berlin, Germany
J Histochem Cytochem 55:651-60. 2007..The 16 cases provide information to establish a refined genotype-phenotype correlation of sSMC and are available for future studies... - Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndromeJoachim Burger
Institute of Human Genetics, Charite, Humboldt Universitat, Berlin, Germany
Am J Med Genet 111:233-7. 2002..Finally, this case highlights that methylation tests can fail to detect some familial AS cases with a recurrence risk of 50%... - Genomic aberrations and survival in cutaneous T cell lymphomasTanja C Fischer
Department of Dermatology, Charite, Humboldt University, Berlin, Germany
J Invest Dermatol 122:579-86. 2004..The association of the imbalances with the clinical course of the disease suggests that genes encoded at these loci may influence tumor development and progression... - Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignanciesInga Nagel
Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
Blood 116:1317-20. 2010..These data suggest that deregulation of TERT gene by chromosomal abnormalities leading to increased telomerase activity might contribute to B-cell lymphomagenesis... - Dosage effect of zero to three functional LBR-genes in vivo and in vitroSophia Gravemann
Institute of Medical Genetics, Charite University Medicine, Berlin, Germany
Nucleus 1:179-89. 2010..Altogether, LBR is a unique model that will allow the systematic study of gene-dosage effects and of modifying endogeneous and exogeneous factors on granulopoiesis... - Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinomaMarcin Szaumkessel
Institute of Human Genetics, University Hospital Schleswig Holstein, Campus Kiel Christian Albrechts, University Kiel, D 24105 Kiel, Germany
Int J Oncol 39:505-14. 2011..0001) 4/63 primary LSCC (p<0.01) showed hypermethylation as compared to controls. In conclusion, we show recurrent alterations of DNA methylation levels in three Fanconi anemia genes which might contribute to the pathogenesis of LSCC... - Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele
Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
Nat Genet 42:1021-6. 2010..Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected... - Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTCSibylle Jakubiczka
Institut fur Humangenetik, Otto von Guericke Universitat, Leipziger Str 44, 39120 Magdeburg, Germany
Eur J Pediatr 166:743-5. 2007.... - Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiencyHeiko Krude
Department of Pediatric Endocrinology, Otto Heubner Center for Pediatrics, Berlin, Germany
J Clin Invest 109:475-80. 2002..Moreover, the association of symptoms in the patients with NKX2-1 mutations points to an important role of human NKX2-1 in the development and function of thyroid, basal ganglia, and lung, as already described for rodents...