Genomes and Genes
Affiliation: Humboldt University
- Uniparental disomies 7 and 14Katrin Hoffmann
Institute of Medical Genetics, Campus Virchow Klinikum, Charite, Augustenburger Platz 1, Berlin, Germany
Best Pract Res Clin Endocrinol Metab 25:77-100. 2011..Management issues in UPD(7) and UPD(14) patients will be discussed, and finally areas requiring further research will be outlined...
- The difficulties of reproducing conventionally derived results through 500k-chip technologyHans H Stassen
Psychiatric University Hospital, PO Box 1931, CH 8032 Zurich, Switzerland
BMC Proc 3:S66. 2009....
- A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in GermanyKatrin Hoffmann
Institute of Medical Genetics, Charite University Medicine Berlin, Germany
J Hypertens 27:983-90. 2009..Isolated populations, as recent data from Iceland and French Canada suggest, could offer a solution to this problem...
- Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann
Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
Am J Hum Genet 79:303-12. 2006....
- FragIdent--automatic identification and characterisation of cDNA-fragmentsDominik Seelow
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Augustenburger Platz, 13353 Berlin, Germany
BMC Genomics 10:95. 2009..However, the manual approach for the characterisation of these fragments using BLAST web interfaces is not suited for larger number of sequences and so far, no user-friendly software is publicly available...
- HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbingWenke Seifert
Institute of Medical Genetics, Charite, University Medicine of Berlin, Berlin, Germany
Eur J Hum Genet 17:1570-6. 2009..The failure to identify any mutation in a family with an autosomal dominant type of isolated digital clubbing suggests that HPGD is not the major gene for this condition...
- The granulocyte nucleus and lamin B receptor: avoiding the ovoidKatrin Hoffmann
Department of Medical Genetics, Charite Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
Chromosoma 116:227-35. 2007..These observations are part of a larger question on the relationships between nuclear shape and cellular function...
- Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defectsMaria Arélin
Institute of Human Genetics, Charite University Medicine Berlin, Berlin, Germany
Eur J Hum Genet 21:367-72. 2013..The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis--based on either SNP mapping or full-genome sequencing--is a very useful tool in prenatal diagnostics of diseases...
- Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one familySevjidmaa Baasanjav
Institute of Medical Genetics, Charite Berlin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
BMC Med Genet 11:110. 2010..The patients affected with both LEMD3 and EXT1 gene mutations displayed typical features of the osteopoikilosis. There were no additional skeletal manifestations detected however, various non-skeletal pathologies coincided in this group...
- Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersAnne Michalk
Institute for Medical Genetics, Charite University Medicine, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Hum Genet 82:464-76. 2008..We conclude that complete or severe functional disruption of fetal AChR causes lethal multiple pterygium syndrome whereas milder alterations result in fetal hypokinesia with inborn contractures or a myasthenic syndrome later in life...
- Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsSevjidmaa Baasanjav
Institute of Medical Genetics, Charite University Medicine, Berlin, Germany
Am J Hum Genet 89:15-27. 2011..The described family constitutes a syndrome characterized by heart defects and joint dislocations resulting from altered initiation of proteoglycan synthesis (Larsen-like syndrome, B3GAT3 type)...
- CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitSeval Turkmen
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
PLoS Genet 5:e1000487. 2009....
- Endothelin-converting enzyme/neutral endopeptidase inhibitor SLV338 prevents hypertensive cardiac remodeling in a blood pressure-independent mannerPhilipp Kalk
Department of Nephrology, Charite, Berlin, Germany
Hypertension 57:755-63. 2011..This effect is at least partially mediated via suppression of cardiac transforming growth factor-β1 expression...
- Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with Pelger-Huët-Anomaly and treated with ColchicineNele Schnipper
Institute of Medical and Human Genetics, Charite Universitatsmedizin Berlin, D 13353, Berlin, Germany
Cytometry B Clin Cytom . 2016..This article is protected by copyright. All rights reserved...
- AssociationDB: web-based exploration of genomic associationDominik Seelow
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
Bioinformatics 23:2643-4. 2007....
- 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...
- Familial Gordon syndrome associated with a PIEZO2 mutationFranz Alisch
Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A . 2016..8057G>A (p.Arg2686His) by Sanger sequencing. Our analysis indicated that mild delay in psychomotor development and intellectual disability could be part of the phenotypic spectrum of Gordon syndrome. © 2016 Wiley Periodicals, Inc...
- Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-geneLuitgard M Graul-Neumann
Institut fur Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A 152:2749-55. 2010..However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome...
- Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutationsGeorg C Schwabe
Department for General Pediatrics, Charite University Hospital, Campus Virchow, Berlin, Germany
Hum Mutat 29:289-98. 2008....
- Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathyChristian Geier
Universitätsklinikum Charité Kardiologie am Campus Buch und Virchow Klinikum, Humboldt Universitat zu Berlin, Berlin, Germany
Circulation 107:1390-5. 2003..MLP-knockout mice develop a marked cardiac hypertrophy reaction and dilated cardiomyopathy (DCM). MLP is therefore a candidate gene for heritable forms of hypertrophic cardiomyopathy (HCM) and DCM in humans...
- Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)Katrin Hoffmann
Gene Mapping Center, Max Delbrück Center for Molecular Medicine and Franz Volhard Clinic, HELIOS Klinikum, Charite, Humboldt University, Berlin, Germany
Nat Genet 31:410-4. 2002..Our findings have implications for understanding nuclear envelope-heterochromatin interactions, the pathogenesis of Pelger-like conditions in leukemia, infection and toxic drug reactions, and the evolution of neutrophil nuclear shape...