Katrin Hoffmann

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. doi Uniparental disomies 7 and 14
    Katrin Hoffmann
    Institute of Medical Genetics, Campus Virchow Klinikum, Charite, Augustenburger Platz 1, Berlin, Germany
    Best Pract Res Clin Endocrinol Metab 25:77-100. 2011
  2. pmc The difficulties of reproducing conventionally derived results through 500k-chip technology
    Hans H Stassen
    Psychiatric University Hospital, PO Box 1931, CH 8032 Zurich, Switzerland
    BMC Proc 3:S66. 2009
  3. pmc Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
    Katrin Hoffmann
    Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
    Am J Hum Genet 79:303-12. 2006
  4. doi A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany
    Katrin Hoffmann
    Institute of Medical Genetics, Charite University Medicine Berlin, Germany
    J Hypertens 27:983-90. 2009
  5. pmc FragIdent--automatic identification and characterisation of cDNA-fragments
    Dominik Seelow
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Augustenburger Platz, 13353 Berlin, Germany
    BMC Genomics 10:95. 2009
  6. pmc HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing
    Wenke Seifert
    Institute of Medical Genetics, Charite, University Medicine of Berlin, Berlin, Germany
    Eur J Hum Genet 17:1570-6. 2009
  7. ncbi The granulocyte nucleus and lamin B receptor: avoiding the ovoid
    Katrin Hoffmann
    Department of Medical Genetics, Charite Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    Chromosoma 116:227-35. 2007
  8. pmc Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects
    Maria Arélin
    Institute of Human Genetics, Charite University Medicine Berlin, Berlin, Germany
    Eur J Hum Genet 21:367-72. 2013
  9. pmc Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family
    Sevjidmaa Baasanjav
    Institute of Medical Genetics, Charite Berlin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    BMC Med Genet 11:110. 2010
  10. pmc Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
    Sevjidmaa Baasanjav
    Institute of Medical Genetics, Charite University Medicine, Berlin, Germany
    Am J Hum Genet 89:15-27. 2011

Collaborators

Detail Information

Publications20

  1. doi Uniparental disomies 7 and 14
    Katrin 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...
  2. pmc The difficulties of reproducing conventionally derived results through 500k-chip technology
    Hans H Stassen
    Psychiatric University Hospital, PO Box 1931, CH 8032 Zurich, Switzerland
    BMC Proc 3:S66. 2009
    ....
  3. pmc Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
    Katrin Hoffmann
    Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
    Am J Hum Genet 79:303-12. 2006
    ....
  4. doi A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany
    Katrin 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...
  5. pmc FragIdent--automatic identification and characterisation of cDNA-fragments
    Dominik 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...
  6. pmc HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing
    Wenke 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...
  7. ncbi The granulocyte nucleus and lamin B receptor: avoiding the ovoid
    Katrin 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...
  8. pmc Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects
    Maria 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...
  9. pmc Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family
    Sevjidmaa 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...
  10. pmc Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
    Sevjidmaa 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)...
  11. pmc CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait
    Seval Turkmen
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 5:e1000487. 2009
    ....
  12. pmc Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
    Anne 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...
  13. doi Endothelin-converting enzyme/neutral endopeptidase inhibitor SLV338 prevents hypertensive cardiac remodeling in a blood pressure-independent manner
    Philipp 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...
  14. pmc Dosage effect of zero to three functional LBR-genes in vivo and in vitro
    Sophia 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...
  15. ncbi AssociationDB: web-based exploration of genomic association
    Dominik Seelow
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
    Bioinformatics 23:2643-4. 2007
    ....
  16. ncbi Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
    Georg C Schwabe
    Department for General Pediatrics, Charite University Hospital, Campus Virchow, Berlin, Germany
    Hum Mutat 29:289-98. 2008
    ....
  17. doi Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene
    Luitgard 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...
  18. ncbi Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy
    Christian 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...
  19. ncbi 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...