Zeynep Tumer

Summary

Affiliation: University of Copenhagen
Country: Denmark

Publications

  1. pmc Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
    Marie Sogaard
    The John F, Kennedy Institute, Glostrup, Denmark
    BMC Med Genet 6:21. 2005
  2. ncbi request reprint Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients
    Z Tumer
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen, Denmark
    Am J Med Genet A 130:340-4. 2004
  3. ncbi request reprint Gene symbol: ATP7A. Disease: Menkes disease
    Z Tumer
    Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
    Hum Genet 114:606. 2004
  4. ncbi request reprint Gene symbol: ATP7A. Disease: Menkes disease
    Z Tumer
    Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
    Hum Genet 114:606. 2004
  5. ncbi request reprint Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
    Zeynep Tumer
    Wilhelm Johannsen Center for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Denmark
    Hum Mutat 22:457-64. 2003
  6. ncbi request reprint Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2)
    Zeynep Tumer
    Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, IMBG, 24 4, The Panum Institute, University of Copenhagen, Blegdamsvej 3, Denmark
    Gene 288:179-85. 2002
  7. ncbi request reprint Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
    Marie Baekvad-Hansen
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 140:427-33. 2006
  8. 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
  9. doi request reprint Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
    Mette Gilling
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark
    Eur J Med Genet 54:e383-8. 2011
  10. pmc Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans
    Mette Gilling
    Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen
    Am J Hum Genet 78:878-83. 2006

Collaborators

Detail Information

Publications22

  1. pmc Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
    Marie Sogaard
    The John F, Kennedy Institute, Glostrup, Denmark
    BMC Med Genet 6:21. 2005
    ..We report the diagnostic yield in a series of 132 subjects with mental retardation, and the associated clinical phenotypes...
  2. ncbi request reprint Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients
    Z Tumer
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen, Denmark
    Am J Med Genet A 130:340-4. 2004
    ..In all three patients, the insulin-like growth factor I receptor gene (IGF1R) gene was deleted supporting the association between IGF1R and growth retardation seen in ring chromosome 15 syndrome...
  3. ncbi request reprint Gene symbol: ATP7A. Disease: Menkes disease
    Z Tumer
    Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
    Hum Genet 114:606. 2004
  4. ncbi request reprint Gene symbol: ATP7A. Disease: Menkes disease
    Z Tumer
    Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
    Hum Genet 114:606. 2004
  5. ncbi request reprint Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
    Zeynep Tumer
    Wilhelm Johannsen Center for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Denmark
    Hum Mutat 22:457-64. 2003
    ..9% of the Menkes disease patients. Except for a few cases, gross gene deletions result in the classical form of Menkes disease with death in early childhood...
  6. ncbi request reprint Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2)
    Zeynep Tumer
    Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, IMBG, 24 4, The Panum Institute, University of Copenhagen, Blegdamsvej 3, Denmark
    Gene 288:179-85. 2002
    ....
  7. ncbi request reprint Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
    Marie Baekvad-Hansen
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 140:427-33. 2006
    ..Furthermore, we suggest presence of a new microcephaly locus within a 2.2 Mb region at 5q35.1-q35.2...
  8. 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...
  9. doi request reprint Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
    Mette Gilling
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark
    Eur J Med Genet 54:e383-8. 2011
    ..This hypothesis was further supported by protein interaction analysis...
  10. pmc Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans
    Mette Gilling
    Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen
    Am J Hum Genet 78:878-83. 2006
    ..Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans...
  11. pmc Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
    Litu Zhang
    Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark
    Eur J Hum Genet 17:1010-8. 2009
    ..Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype...
  12. ncbi request reprint Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family
    Ann Marie Henriksen
    Willhelm Johansen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen, Denmark
    Genet Test 8:404-6. 2004
    ..We conclude that this mutation is causing BOR in the family, most likely as a result of haploinsufficiency or an abnormal protein product caused by aberrant splicing of EYA1 mRNA...
  13. pmc Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)
    Asli N Silahtaroglu
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    BMC Genet 3:5. 2002
    ..As SOD1 receives copper, essential for its normal function, by the copper chaperone, CCS (Copper Chaperone for SOD), we considered CCS as a potential candidate gene for ALS...
  14. ncbi request reprint 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...
  15. ncbi request reprint Screening of 99 Danish patients with congenital heart disease for GATA4 mutations
    Litu Zhang
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, DK 2200 Copenhagen, Denmark
    Genet Test 10:277-80. 2006
    ..Thus, the diagnostic importance of GATA4 mutations may be confined to familial cases or specific subgroups of CHD phenotypes...
  16. 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
    ....
  17. 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...
  18. 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...
  19. pmc Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders
    Mette Gilling
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark Section for Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark
    Front Genet 4:54. 2013
    ..3/5 channel is implicated in the pathogenesis of some forms of autism spectrum disorders, epilepsy, and possibly other psychiatric disorders and therefore, KCNQ3 and KCNQ5 are suggested as candidate genes for these disorders...
  20. doi request reprint GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells
    Janni Vestergaard
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    DNA Cell Biol 27:251-6. 2008
    ..In conclusion, our results suggest that GLI1 is involved in cell cycle and proliferation control in the embryonal carcinoma stem cell line NT2...
  21. pmc Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
    Rikke S Møller
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Am J Hum Genet 82:1165-70. 2008
    ..In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly...
  22. doi request reprint A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
    Mette Gilling
    Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark
    Eur J Hum Genet 16:312-9. 2008
    ..Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders...