Research Topics
Genomes and GenesSpecies | Zeynep TumerSummaryAffiliation: University of Copenhagen Country: Denmark Publications
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Publications
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 9qterMarie 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...
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patientsZ 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...- 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.... - Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7AZeynep 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... - Gene symbol: ATP7A. Disease: Menkes diseaseZ Tumer
Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
Hum Genet 114:606. 2004 - Gene symbol: ATP7A. Disease: Menkes diseaseZ Tumer
Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
Hum Genet 114:606. 2004 
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardationMette 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...
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 developmentLitu 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...- 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... - Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndromeJose 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... - Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansMette 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... - Screening of 99 Danish patients with congenital heart disease for GATA4 mutationsLitu 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... - Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALSZeynep 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... - A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaMette 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... - Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic featuresAnne Marie Bisgaard
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Am J Med Genet A 140:2180-7. 2006.... - GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cellsJanni 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... - Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephalyRikke 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... - Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart diseaseMarie 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... - Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitroJanni 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... - Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome familyAnn 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...