Maria Kirchhoff

Summary

Country: Denmark

Publications

  1. ncbi MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
    Maria Kirchhoff
    Chromosome Laboratory, Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:33-42. 2007
  2. ncbi Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Eur J Med Genet 50:243-55. 2007
  3. ncbi Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome
    Anne-Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:644-8. 2006
  4. ncbi Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen Ø, Denmark
    Clin Dysmorphol 16:109-12. 2007
  5. ncbi Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:2180-7. 2006
  6. ncbi A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
    Maria Kirchhoff
    Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:256-63. 2007
  7. ncbi Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection)
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Electrophoresis 26:4327-32. 2005
  8. ncbi Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
    Morten Dunø
    Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Hum Genet 115:459-67. 2004
  9. ncbi Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities
    Hanne Dahlgaard Hove
    Department of Clinical Genetics and Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
    Clin Dysmorphol 17:121-2. 2008
  10. ncbi A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients
    Ann Britt Kiholm Lund
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Eur J Med Genet 51:520-6. 2008

Detail Information

Publications23

  1. ncbi MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
    Maria Kirchhoff
    Chromosome Laboratory, Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:33-42. 2007
    ..MRS-MLPA combined with Subtelomeric MLPA represents an attractive first test in a clinical algorithm for mental retardation...
  2. ncbi Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Eur J Med Genet 50:243-55. 2007
    ..These cases illustrate the need for careful assessment of the extended family in order to interpret the phenotypic consequences of abnormalities identified using array-CGH...
  3. ncbi Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome
    Anne-Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:644-8. 2006
  4. ncbi Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen Ø, Denmark
    Clin Dysmorphol 16:109-12. 2007
    ..We hypothesize that haploinsufficiency of WNT2B (wingless-type MMTV integration site family, member 2B) and NTNG1 (Netrin G1) contributed to the patient's phenotype...
  5. ncbi Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:2180-7. 2006
    ....
  6. ncbi A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
    Maria Kirchhoff
    Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:256-63. 2007
    ..Genotyping showed that the duplication was derived from non-allelic homologous recombination of paternal H1 and H2 haplotypes. To our knowledge this is the first report of a patient with a 17q21.31 microduplication...
  7. ncbi Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection)
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Electrophoresis 26:4327-32. 2005
    ..Sample quality was automatically assessed. Control probes were not required. Having used the software and methods for two years, we conclude that a reliable, objective, and fast workflow is obtained...
  8. ncbi Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
    Morten Dunø
    Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Hum Genet 115:459-67. 2004
    ..The described copy number scanning approach is largely independent of the genomic locus and may be a valuable tool for characterising a large spectrum of deletions...
  9. ncbi Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities
    Hanne Dahlgaard Hove
    Department of Clinical Genetics and Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
    Clin Dysmorphol 17:121-2. 2008
  10. ncbi A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients
    Ann Britt Kiholm Lund
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Eur J Med Genet 51:520-6. 2008
    ..To our knowledge this is the first report of a patient with a 15q24 microduplication...
  11. ncbi Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter
    Maria Kirchhoff
    Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 149:894-905. 2009
    ..In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years...
  12. ncbi Flow cytometric DNA index, G-band karyotyping, and comparative genomic hybridization in detection of high hyperdiploidy in childhood acute lymphoblastic leukemia
    Ulrikka Nygaard
    Department of Pediatrics, The University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    J Pediatr Hematol Oncol 28:134-40. 2006
    ..In addition, FCM detects patients with high hyperdiploid subclones, not detected by either GBK or HR-CGH, and the challenge remains to determine the prognosis of patients with such high hyperdiploid subclones...
  13. ncbi Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Prenat Diagn 28:1119-25. 2008
    ..Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported...
  14. ncbi Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, DK-2100 Copenhagen, Denmark
    Eur J Hum Genet 13:171-5. 2005
    ..In total, 3.2% of the samples were inconclusive. We conclude that automatic computer assisted MLPA is a rapid, simple and reliable method for detection of aneuploidies in prenatal diagnostics...
  15. ncbi High-resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemia
    Tim D Kristensen
    Department of Pediatrics, The University Hospital, Rigshospitalet, Copenhagen, Denmark
    Eur J Haematol 70:363-72. 2003
    ..CONCLUSION: HRCGH is superior to conventional CGH as an adjunct to G-band karyotyping as it detects recurrent aberrations at a significantly higher rate than both these techniques...
  16. ncbi Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH
    Maria Kirchhoff
    Department of Clinical Genetics, 4052 Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Am J Med Genet A 127:111-7. 2004
    ..It is likely that the use of the technique in this application will reinforce the effort of defining new syndromes...
  17. ncbi Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
    Reinhard Ullmann
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hum Mutat 28:674-82. 2007
    ..Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR...
  18. ncbi Polydactyly in a boy with Smith-Magenis syndrome
    Lisbeth Mariannejensen
    Pediatric Department, Herning Sygehus, Herning, Denmark
    Clin Dysmorphol 14:189-90. 2005
    ..We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know...
  19. ncbi [Chromosome aberrations in mentally retarded and dysmorphic patients with normal karyotypes]
    Maria Kirchhoff
    H:S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling,
    Ugeskr Laeger 166:4482-5. 2004
  20. ncbi Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences
    John C K Barber
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury
    Am J Med Genet A 143:615-8. 2007
  21. ncbi Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification
    Maria Kirchhoff
    Am J Med Genet A 139:231-3. 2005
  22. ncbi Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences
    John C K Barber
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Eur J Hum Genet 13:283-91. 2005
    ..As a result, published cases of transmitted imbalances have been collected as a guide to the possible significance of such findings in the future (see the 'Chromosome Anomaly Collection' at www.som.soton.ac.uk/research/geneticsdiv)...
  23. ncbi Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
    Jose M Belloso
    Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 KBH N Copenhagen, Denmark
    Eur J Hum Genet 15:711-3. 2007
    ..1) in phenotypically normal individuals. The 7q35 breakpoint disrupts the CNTNAP2 gene, indicating that truncation of this gene does not necessarily lead to the symptoms of the complex Gilles de la Tourette syndrome...