Zeynep Tumer

Summary

Affiliation: Copenhagen University Hospital
Country: Denmark

Publications

  1. ncbi request reprint An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome
    Zeynep Tumer
    Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Hum Mutat 34:417-29. 2013
  2. ncbi request reprint X-linked Menkes disease: first documented report of germ-line mosaicism
    Lena Poulsen
    Medical Genetics Laboratory Center, The John F Kennedy Institute, Glostrup, Denmark
    Genet Test 8:286-91. 2004
  3. doi request reprint Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
    Bitten Schönewolf-Greulich
    Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Am J Med Genet A 161:2358-62. 2013
  4. pmc Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up
    Susanne E Boonen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Diabetes Care 36:505-12. 2013
  5. pmc Splice site mutations in the ATP7A gene
    Tina Skjørringe
    Department of Applied Functional Human Genetics, The Kennedy Center, Glostrup, Denmark
    PLoS ONE 6:e18599. 2011
  6. doi request reprint Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities
    Linea Melchior
    Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Am J Med Genet B Neuropsychiatr Genet 162:825-31. 2013
  7. ncbi request reprint Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature
    Birgitte Bertelsen
    Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600, Denmark
    Neurogenetics 14:197-203. 2013
  8. pmc No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome
    Susanne E Boonen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Eur J Hum Genet 20:119-21. 2012
  9. doi request reprint Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation
    Karen Grønskov
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    J Med Genet 48:308-11. 2011
  10. pmc Menkes disease
    Zeynep Tumer
    Kennedy Centre, Glostrup, Denmark
    Eur J Hum Genet 18:511-8. 2010

Collaborators

Detail Information

Publications22

  1. ncbi request reprint An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome
    Zeynep Tumer
    Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Hum Mutat 34:417-29. 2013
    ..This study reviews 274 published and 18 novel disease causing mutations identified in 370 unrelated MD patients, nonpathogenic variants of ATP7A, functional studies of the ATP7A mutations, and animal models of MD...
  2. ncbi request reprint X-linked Menkes disease: first documented report of germ-line mosaicism
    Lena Poulsen
    Medical Genetics Laboratory Center, The John F Kennedy Institute, Glostrup, Denmark
    Genet Test 8:286-91. 2004
    ..The finding of germ-line mosaicism has obvious implications for genetic counseling of Menkes disease families...
  3. doi request reprint Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
    Bitten Schönewolf-Greulich
    Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Am J Med Genet A 161:2358-62. 2013
    ..Here we describe a 3 Mb duplication at 4p16.3 segregating with a characteristic phenotype, macrocephaly, speech delay and mild intellectual disability in a three generation family...
  4. pmc Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up
    Susanne E Boonen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Diabetes Care 36:505-12. 2013
    ..We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes...
  5. pmc Splice site mutations in the ATP7A gene
    Tina Skjørringe
    Department of Applied Functional Human Genetics, The Kennedy Center, Glostrup, Denmark
    PLoS ONE 6:e18599. 2011
    ..Both the in silico predictions and the in vivo results support the hypothesis previously suggested by us and others, that the presence of some wild-type transcript is correlated to a milder phenotype...
  6. doi request reprint Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities
    Linea Melchior
    Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Am J Med Genet B Neuropsychiatr Genet 162:825-31. 2013
    ..The structural variations observed in this family may contribute to the observed symptoms, but further studies are necessary to investigate the possible involvement of the described variations in the TS etiology...
  7. ncbi request reprint Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature
    Birgitte Bertelsen
    Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600, Denmark
    Neurogenetics 14:197-203. 2013
    ..Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes. ..
  8. pmc No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome
    Susanne E Boonen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Eur J Hum Genet 20:119-21. 2012
    ..We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases...
  9. doi request reprint Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation
    Karen Grønskov
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    J Med Genet 48:308-11. 2011
    ..This is the first report of paternally derived structural chromosomal mutations in 11p15 causing SRS. These cases define a novel aetiology of the growth retardation in SRS, namely, dissociation of IGF2 from its enhancers...
  10. pmc Menkes disease
    Zeynep Tumer
    Kennedy Centre, Glostrup, Denmark
    Eur J Hum Genet 18:511-8. 2010
    ..Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms...
  11. doi request reprint Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS
    Zeynep Tumer
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Neurobiol Aging 33:208.e1-5. 2012
    ..As the underlying genetic defect is known only in approximately 20%-30% of FALS families, further screening of these cases is necessary for establishing the contribution of OPTN mutations in disease pathogenesis...
  12. pmc Clinical expression of Menkes disease in females with normal karyotype
    Lisbeth Birk Møller
    Center of Applied Human Genetics, Kennedy Center, GL, Landevej 7, Glostrup, Denmark
    Orphanet J Rare Dis 7:6. 2012
    ..In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes...
  13. ncbi request reprint Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype
    Karen Grønskov
    Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, DK 2600 Glostrup, Denmark Department of Cellular and Molecular Medicine, University of Copenhagen, DK 2200 Copenhagen, Denmark Electronic address
    Eur J Med Genet 57:284-7. 2014
    ..This study shows that in males with a phenotype of mild Partington syndrome and in heterozygous females fragment length analysis should be preferred over DNA sequencing...
  14. doi request reprint Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus
    Aia E Jønch
    Kennedy Center, Genetic Counseling Clinic, Glostrup, Denmark
    Am J Med Genet A 158:2302-8. 2012
    ..Microarray analysis was useful in refining the chromosomal imbalance and suggesting a candidate region for diaphragmatic hernia...
  15. ncbi request reprint Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
    Lisbeth Birk Møller
    Kennedy Institute Statens Øjenklinik, Glostrup, Denmark
    Hum Mutat 26:84-93. 2005
    ..These findings suggest that although a disease-causing mutation may indicate a functional significance of the affected residue, this is not always the case...
  16. doi request reprint Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature
    Saiqa Yasmeen
    Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Psychiatr Genet 23:130-3. 2013
    ..We could not detect var321 in the present cohort, suggesting that this is not a common variant among Danish TS patients...
  17. ncbi request reprint Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro
    Janni Vestergaard
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, and Department of Radiation Biology, The Finsencenter, Copenhagen University Hospital, Denmark
    Lung Cancer 52:281-90. 2006
    ..Thus, the data support the idea that the HH pathway may be a therapeutic target in SCLC. However, the data also suggest that the SCLC cells can circumvent the apparent in vivo requirement of HH signaling...
  18. ncbi request reprint 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
    ....
  19. doi request reprint Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature
    Else la Cour Sibbesen
    Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Am J Med Genet A 161:1447-52. 2013
    ..The deletion of the patient overlaps with several of the proposed critical regions for the 9p deletion syndrome...
  20. pmc Three new loci for determining x chromosome inactivation patterns
    Birgitte Bertelsen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    J Mol Diagn 13:537-40. 2011
    ..Altogether, we show that these loci can be applied easily in molecular diagnostic laboratories, either as a supplement or as an alternative to the existing AR assay...
  21. pmc Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
    Kirstine Ravn
    Center for Rett Syndrome, Kennedy Center, Glostrup, Denmark
    Orphanet J Rare Dis 6:58. 2011
    ..Based on these observations we also investigated origin of mutation segregation to further improve genetic counselling...
  22. doi request reprint Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
    Bitten Schönewolf-Greulich
    Genetic Counselling Clinic, Kennedy Center, Glostrup, Denmark
    Am J Med Genet A 155:2964-9. 2011
    ..2, strongly suggests the presence of a candidate gene for hearing loss within this region. We screened 41 patients with profound sensorineural hearing loss for mutations of TBX2 and detected no mutations...