Marianne Schwartz

Summary

Affiliation: Copenhagen University Hospital
Country: Denmark

Publications

  1. ncbi request reprint LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1635-7. 2005
  2. ncbi request reprint Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
    Marianne Schwartz
    Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, DK 2100, Denmark
    Genet Test 8:361-7. 2004
  3. ncbi request reprint Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations
    Nanna D Rendtorff
    Department of Medical Genetics, John F Kennedy Institute, Glostrup, Denmark
    Hum Mutat 26:374-83. 2005
  4. ncbi request reprint High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
    Marie Louise Sveen
    Department of Neurology, Neuromuscular Research Unit, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 59:808-15. 2006
  5. doi request reprint Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
    Tina D Jeppesen
    Department of Neurology, The Neuromuscular Research Unit and The Copenhagen Muscle Research Centre, Section 7611, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Neuromuscul Disord 18:306-9. 2008
  6. ncbi request reprint Paternal inheritance of mitochondrial DNA
    Marianne Schwartz
    Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, Denmark
    N Engl J Med 347:576-80. 2002
  7. ncbi request reprint No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations
    Marianne Schwartz
    Department of Clinical Genetics 4062, National University Hospital, Righospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    J Neurol Sci 218:99-101. 2004
  8. ncbi request reprint New patterns of inheritance in mitochondrial disease
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Biochem Biophys Res Commun 310:247-51. 2003
  9. ncbi request reprint [The molecular-genetic background of spinal muscular atrophy. Diagnosis, prognosis and future treatment]
    Marianne Schwartz
    H S Rigshospitalet, Klinisk Genetisk Afdeling, København
    Ugeskr Laeger 167:745-8. 2005
  10. ncbi request reprint Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy
    Tina D Jeppesen
    Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Centre, Rigshospitalet, Copenhagen, Denmark
    Brain 129:3402-12. 2006

Detail Information

Publications53

  1. ncbi request reprint LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1635-7. 2005
    ..A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I...
  2. ncbi request reprint Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
    Marianne Schwartz
    Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, DK 2100, Denmark
    Genet Test 8:361-7. 2004
    ..Also, the assay reliably identified 7 carrier females, which are usually not easily recognized. In our hands the method is highly reproducible, easy to handle, and has increased our mutation pick-up rate by a total of 33%...
  3. ncbi request reprint Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations
    Nanna D Rendtorff
    Department of Medical Genetics, John F Kennedy Institute, Glostrup, Denmark
    Hum Mutat 26:374-83. 2005
    ..In conclusion, the strategy presented may greatly help small- and medium-sized laboratories in the pre- and postnatal molecular diagnosis of TSC...
  4. ncbi request reprint High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
    Marie Louise Sveen
    Department of Neurology, Neuromuscular Research Unit, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 59:808-15. 2006
    ..The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this and the genotype-phenotype relation in LGMD2I...
  5. doi request reprint Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
    Tina D Jeppesen
    Department of Neurology, The Neuromuscular Research Unit and The Copenhagen Muscle Research Centre, Section 7611, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Neuromuscul Disord 18:306-9. 2008
    ..In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons...
  6. ncbi request reprint Paternal inheritance of mitochondrial DNA
    Marianne Schwartz
    Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, Denmark
    N Engl J Med 347:576-80. 2002
  7. ncbi request reprint No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations
    Marianne Schwartz
    Department of Clinical Genetics 4062, National University Hospital, Righospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    J Neurol Sci 218:99-101. 2004
    ..Although these findings indicate that the paternal inheritance of mtDNA is rare, they do not rule out that the phenomenon may occur at a rate that could still affect genetic counselling and anthropological research...
  8. ncbi request reprint New patterns of inheritance in mitochondrial disease
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Biochem Biophys Res Commun 310:247-51. 2003
    ....
  9. ncbi request reprint [The molecular-genetic background of spinal muscular atrophy. Diagnosis, prognosis and future treatment]
    Marianne Schwartz
    H S Rigshospitalet, Klinisk Genetisk Afdeling, København
    Ugeskr Laeger 167:745-8. 2005
  10. ncbi request reprint Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy
    Tina D Jeppesen
    Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Centre, Rigshospitalet, Copenhagen, Denmark
    Brain 129:3402-12. 2006
    ..Regular, supervised aerobic exercise is therefore recommended in MM patients with the studied mutations...
  11. doi request reprint Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations
    Flemming Wibrand
    Department of Clinical Genetics 4061, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Muscle Nerve 41:607-13. 2010
    ..The results indicate that RC enzyme analysis in muscle is not a sensitive test for MM in adults. In these patients, abnormal muscle histochemistry appears to be a better predictor ofMM...
  12. ncbi request reprint Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation
    Tina D Jeppesen
    Copenhagen Muscle Research Center, Department of Neurology and Neuromuscular Research Unit, DK 2100 Copenhagen, Denmark
    Arch Neurol 63:1701-6. 2006
    ..Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling...
  13. doi request reprint cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
    Morten Duno
    Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    Eur J Hum Genet 16:935-40. 2008
    ..The present study demonstrates the value of cDNA analysis for CAPN3 in LGMD2A patients and indicates that calpainopathy is an uncommon cause of LGMD in the Denmark...
  14. doi request reprint A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
    Elsebet Ostergaard
    Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Eur J Pediatr 169:201-5. 2010
    ..We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations...
  15. ncbi request reprint [Paternal inheritance of mitochondrial DNA]
    Marianne Schwartz
    H S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling, Neurocentret, Neurologisk afdeling
    Ugeskr Laeger 165:3627-30. 2003
  16. ncbi request reprint Deletion of exon 16 of the dystrophin gene is not associated with disease
    Marianne Schwartz
    Department of Clinical Genetics, University Hospital, Copenhagen, Denmark
    Hum Mutat 28:205. 2007
    ..The findings suggest that even large gene re-arrangements of the dystrophin gene may not always be disease-causing, and caution a diagnosis of dystrophinopathy in sporadic cases of single exon in-frame deletions...
  17. ncbi request reprint Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Brain 130:853-61. 2007
    ....
  18. ncbi request reprint Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations
    Mette C Ørngreen
    Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Ann Neurol 57:60-6. 2005
    ..The findings also suggest that single CPT2 gene mutations may exert a dominant-negative effect on the tetrameric CPT II protein...
  19. doi request reprint Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease
    John Vissing
    Department of Neurology 2082, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
    Brain 132:1545-52. 2009
    ..The milder form of McArdle disease provides important clues to the level of functional myophosphorylase needed to support muscle oxidative metabolism...
  20. ncbi request reprint Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
    Morten Dunø
    Department of Clinical Genetics, 4062, University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Eur J Hum Genet 12:738-43. 2004
    ..Variation in allelic expression has not previously been described for CLCN1, and our finding suggests that allelic variation may be an important modifier of disease progression in myotonia congenita...
  21. ncbi request reprint High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease
    Morten Duno
    Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    Ann Hum Genet 73:292-7. 2009
    ..The HRM protocol reduced the need for direct sequencing by approximately 85%, and is a good approach to search for new mutations in PYGM...
  22. ncbi request reprint Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA
    Tina Dysgaard Jeppesen
    The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Neurol Sci 214:17-20. 2003
    ..4 mmol/l), and in the mid-occipital region (2.3-3.2 mmol/l) that appeared normal on MRI. Further tests revealed evidence of a severe oxidative defect of muscle metabolism as well...
  23. ncbi request reprint Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy
    Tina D Jeppesen
    The Copenhagen Muscle Research Center, Copenhagen, Denmark
    Ann Neurol 54:86-92. 2003
    ....
  24. ncbi request reprint 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...
  25. ncbi request reprint Muscle structural changes in mitochondrial myopathy relate to genotype
    David B Olsen
    Dept of Neurology and The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Neurol 250:1328-34. 2003
    ..These findings provide evidence that morphological changes in muscle of MM patients are common and may resemble those of muscular dystrophies, but that development of dystrophic-like changes in muscle relate to genotype...
  26. ncbi request reprint Decrement of compound muscle action potential is related to mutation type in myotonia congenita
    Eskild Colding-Jørgensen
    Department of Clinical Neurophysiology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Muscle Nerve 27:449-55. 2003
    ..In conclusion, CMAP decrement may be pronounced in dominant myotonia congenita, and the presence of decrement is related to mutation type...
  27. doi request reprint Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy
    Morten Duno
    Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Denmark
    Ophthalmic Genet 33:225-31. 2012
    ....
  28. ncbi request reprint 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...
  29. doi request reprint Mitochondrial haplogroups: ischemic cardiovascular disease, other diseases, mortality, and longevity in the general population
    Marianne Benn
    Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Circulation 117:2492-501. 2008
    ..We tested the hypothesis that common haplogroups predict risk of ischemic cardiovascular disease, morbidity from other causes, mortality, and longevity in a general population of European descent...
  30. ncbi request reprint Large genomic rearrangements in MECP2
    Kirstine Ravn
    Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark
    Hum Mutat 25:324. 2005
    ..The results from this study indicate that large deletions in MECP2 cause classic RTT...
  31. ncbi request reprint Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer
    Rasmus S Ripa
    Department of Clinical Genetics, Copenhagen University Hospital, H S Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen O, Denmark
    Mutat Res 570:89-96. 2005
    ..On this basis, the application of the MSH2 N596del mutation, in presymptomatic screening of HNPCC families, is recommended...
  32. ncbi request reprint [Use of molecular biological methods in invasive prenatal genetic diagnosis]
    Claes Lundsteen
    H S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling
    Ugeskr Laeger 165:780-3. 2003
    ..The Human Genome Project now allows prenatal diagnosis for most monogenic diseases, and the rapid improvement of the DNA-chip technology will increase the number of prenatal diagnoses even further...
  33. doi request reprint Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation
    Annette Mouritsen
    University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark
    Int J Androl 33:521-7. 2010
    ..We conclude that TART were most frequently detected in patients with severe CYP21A2 mutations, and may occur already in early childhood in such patients...
  34. doi request reprint Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation
    Suzanne Granhøj Lindquist
    Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    J Neurol Sci 268:124-30. 2008
    ..We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features...
  35. ncbi request reprint A new mutation causing autosomal dominant periodic fever syndrome in a Danish family
    Heike Weyhreter
    Department of Paediatrics 531, H S Hvidovre Hospital, Copenhagen, Denmark
    J Pediatr 142:191-3. 2003
    ..In contrast, this mutation was not found in the 4 family members reported to be healthy nor in 50 normal control patients. The youngest member of the family, a 2-year-old boy, was treated successfully with etanercept...
  36. ncbi request reprint dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations
    Linea Melchior
    Department of Clinical Genetics, 4062 Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Ann Hum Genet 69:222-6. 2005
    ..A real-time quantitative PCR approach identified two patients with NSD1 deletions. Our mutation screen is compared to other studies and all published mutations and polymorphisms are summarized...
  37. ncbi request reprint [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes]
    Marianne Schwartz
    Klinisk Genetisk Afdeling, H S Rigshospitalet, DK 2100 København Ø
    Ugeskr Laeger 165:912-6. 2003
    ..When a CFTR mutation is identified, genetic counselling and a mutation analysis should be offered to the relevant family members...
  38. ncbi request reprint 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 Ø, 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...
  39. ncbi request reprint Impaired cognitive function in women with congenital adrenal hyperplasia
    Trine H Johannsen
    University Department of Growth and Reproduction, GR 5064, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    J Clin Endocrinol Metab 91:1376-81. 2006
    ..Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity...
  40. ncbi request reprint Recombination of human mitochondrial DNA
    Yevgenya Kraytsberg
    Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
    Science 304:981. 2004
  41. ncbi request reprint Characterization of two new dominant ClC-1 channel mutations associated with myotonia
    Morten Grunnet
    Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Muscle Nerve 28:722-32. 2003
    ..These studies thereby explain the molecular background for the observed myotonia in patients...
  42. ncbi request reprint X-linked high myopia associated with cone dysfunction
    Terri L Young
    Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
    Arch Ophthalmol 122:897-908. 2004
    ..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
  43. ncbi request reprint Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
    Gun Peggy S Knudsen
    Faculty Division Rikshospitalet, Department of Medical Genetics, University of Oslo, Oslo, Norway
    Eur J Hum Genet 14:1189-94. 2006
    ..These findings, particularly the greater degree of X inactivation skewing in Rett syndrome patients, are of potential significance in the analysis of genotype-phenotype correlations in Rett syndrome...
  44. ncbi request reprint N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
    Thomas Rosenberg
    Gordon Norrie Center for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Kennedy Center, Hellerup, Denmark
    Mol Vis 13:1962-9. 2007
    ..The study was conducted to resolve the spectrum of ABCA4 mutations in a cohort of unrelated Danish residents with early-onset macular dystrophy...
  45. ncbi request reprint Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood
    Birthe S Olsen
    Department of Paediatrics, Glostrup University Hospital, Glostrup, Denmark
    Pediatr Diabetes 8:239-41. 2007
    ..The diagnosis of TRMA should be suspected in patients with syndromic diabetes including hearing loss and anaemia, even if the latter is only very mild and, particularly, in the case of consanguinity...
  46. ncbi request reprint Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    Gert Van Goethem
    Neuromuscular Reference Center and Department of Neurology, University Hospital of Antwerp UZA, Antwerpen, Belgium
    Eur J Hum Genet 11:547-9. 2003
    ..The third mutation was previously reported as a recessive POLG mutation (T251I). This finding indicates the need for POLG sequencing in patients with features of MNGIE without TP mutations...
  47. ncbi request reprint A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
    Vibeke Westphal
    The Burnham Institute, Glycobiology Program, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA
    Hum Mol Genet 11:599-604. 2002
    ..We speculate that this type of variant may be implicated in other multi-factorial disorders that involve N-glycosylation...
  48. pmc Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    Joshua D Groman
    Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 74:176-9. 2004
    ..0, 95% CI 11.1-103.7, P<.00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles...
  49. ncbi request reprint Microsatellite analysis of urine sediment versus urine cytology for diagnosing transitional cell tumors of the urinary bladder
    Delfina Fornari
    Department of Pathology, Herlev University Hospital of Copenhagen, Denmark
    APMIS 112:148-52. 2004
    ..A panel of the six most informative markers for MAUS was selected. Although MAUS has an advantage over routine cytology in low-grade, low-stage tumors, an overall sensitivity of 45% is not sufficient for routine clinical use...
  50. ncbi request reprint New evaluation of plasma DNA microsatellite analysis in patients with TCC of the urinary bladder
    Delfina Fornari
    Department of Pathology, Herlev University Hospital of Copenhagen, 2730 Herlev, Denmark
    Anticancer Res 24:1733-6. 2004
    ..The method was further tested for MSI (microsatellite instability) and compared with tissue DNA analysis...
  51. ncbi request reprint Under-representation of bladder transitional cell tumour 9q, 11p and 14q LOH in urine and impact on molecular diagnosis
    Delfina Fornari
    Department of Pathology, Herlev University Hospital of Copenhagen, Herlev Ringvej 75, 2730 Herlev, Denmark
    Anticancer Res 25:4049-52. 2005
    ....
  52. ncbi request reprint Craniofacial morphology in Muenke syndrome
    Mette K Keller
    Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, 3D Laboratory, Faculty of Health Sciences, University of Copenhagen, and the Department of Clinical Genetics, The Juliane Marie Centre, Copenhagen University Hospital, Denmark
    J Craniofac Surg 18:374-86. 2007
    ..The study indicates differences with regard to severity of increased digital markings and craniofacial asymmetry between the infants with Muenke syndrome and the infants with nonsyndromic unilateral coronal synostosis...
  53. ncbi request reprint The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
    Alessandra Maugeri
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 10:197-203. 2002
    ..These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago...