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Zeynep Tümer

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Saiqa Yasmeen; Birgitte Bertelsen; Nanette Mol Debes; Linea Melchior; Liselotte Skov; Zeynep Tümer
Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.
Zeynep Tümer
An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome.
Susanne E Boonen; Pinar Dayanikli; Louise Docherty; Lutgarde Dooms; Karen Grønskov; Andreas P Haemers; Johanne M D Hahnemann; Yves Kockaerts; Olga Kordonouri; Lise G Larsen; Anna Lehmann; Deborah J G Mackay; Ahmed F Massoud; C T Bich Ngoc; Phuong Bich Nguyen; Vijith Puthi; Frida Sundberg; Zeynep Tümer; Dung Chí Vu; Carlo Acerini; I Karen Temple
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

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2013: Saiqa Yasmeen; Birgitte Bertelsen; Nanette Mol Debes; Linea Melchior; Liselotte Skov; Zeynep Tümer
Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.
Psychiatric genetics 2013;23(3):130-3.
2013: Zeynep Tümer
An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome.
Human mutation 2013;34(3):417-29.
2013: Susanne E Boonen; Pinar Dayanikli; Louise Docherty; Lutgarde Dooms; Karen Grønskov; Andreas P Haemers; Johanne M D Hahnemann; Yves Kockaerts; Olga Kordonouri; Lise G Larsen; Anna Lehmann; Deborah J G Mackay; Ahmed F Massoud; C T Bich Ngoc; Phuong Bich Nguyen; Vijith Puthi; Frida Sundberg; Zeynep Tümer; Dung Chí Vu; Carlo Acerini; I Karen Temple
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
Diabetes care 2013;36(3):505-12.
2013: Mette Gilling; Vera M Kalscheuer; Marlene B Lauritsen; Guiomar Oliveira; Hanne B Rasmussen; Nicole Schmitt; Ana F Sequeira; Joana Almeida; Marta Baretto; Susanne E Boonen; karen brondum-nielsen; Kirstine Calloe; Zeynep Tümer; Reinhard Ullmann; Astrid M Vicente; Niels Tommerup
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.
Frontiers in genetics 2013;4():54.
2012: Kirstine Ravn; T L Dahm; S G Lindquist; K Nielsen; Zeynep Tümer
Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.
Clinical genetics 2012;82(3):292-4.
2012: Kerstin Becker; Jean-Marie Cuisset; Bruno Delobel; Nataliya Di Donato; Joris Andrieux; Göran Annerén; Muriel Holder-Espinasse; Nolwenn Jean; Aia Elise Jønch; Ghislaine Plessis; Kirstine Ravn; Evelin Schrock; Ann-Charlotte Thuresson; Sigrid Tinschert; Zeynep Tümer; Louis Vallée; Karl Hackmann
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
European journal of medical genetics 2012;55(8-9):490-7.
2012: Laura Sønderberg Roos; Karen Grønskov; Hanne Jensen; Zeynep Tümer
[The genetic background for the eye malformations anophthalmia and microphthalmia].
Ugeskrift for laeger 2012;174(11):713-6.
2012: Birgitte Bertelsen; Karen Brøndum-Nielsen; Nanette Mol Debes; Linea Melchior; Liselotte Skov; Zeynep Tümer
[The genetics of Gilles de la Tourette syndrome].
Ugeskrift for laeger 2012;174(8):484-7.
2012: Zeynep Tümer; Birgitte Bertelsen; Ole Gredal; Karen Grønskov; Melinda Magyari; Karen Cecilie Nielsen; Karen Brøndum-Nielsen
Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.
Neurobiology of aging 2012;33(1):208.e1-5.
2011: Bitten Schönewolf-Greulich; Lisbeth Tranebjaerg; Peter Baekgaard; Karen Brøndum-Nielsen; Marianne Lodahl; Kate Nielsen; Kirstine Ravn; Nanna Dahl Rendtorff; Anne Ronan; Zeynep Tümer
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
American journal of medical genetics. Part A 2011;155A(12):2964-9.
2011: Roxana Kariminejad; Allan Lind-Thomsen; Fikret Erdogan; Hans H Ropers; Niels Tommerup; Zeynep Tümer; Reinhard Ullmann; Rikke Steensbjerre Møller
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.
Human mutation 2011;32(12):1427-35.
2011: Zeynep Tümer; Leo Klomp
Clinical utility gene card for: Menkes disease.
European journal of human genetics : EJHG 2011;19(10):.
2011: Birgitte Bertelsen; Zeynep Tümer; Kirstine Ravn
Three new loci for determining x chromosome inactivation patterns.
The Journal of molecular diagnostics : JMD 2011;13(5):537-40.
2011: Mette Gilling; Karen Friis Henriksen; Vera M Kalscheuer; Ulf Kristoffersson; Allan Lind-Thomsen; Yuan Mang; Morten Møller; Mads Bak; Merete Bugge; Zeynep Tümer; Reinhard Ullmann; Niels Tommerup
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
European journal of medical genetics 2011;54(4):e383-8.
2011: Karen Grønskov; Rebecca L Poole; Johanne M D Hahnemann; Jennifer Thomson; Zeynep Tümer; Karen Brøndum-Nielsen; Rinki Murphy; Kirstine Ravn; Linea Melchior; Alma Dedic; Birgitte Dolmer; I Karen Temple; Susanne E Boonen; Deborah J G Mackay
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.
Journal of medical genetics 2011;48(5):308-11.
2011: Susanne E Boonen; Anne Lisbeth Hoffmann; Dian Donnai; Zeynep Tümer; Kirstine Ravn
Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome?
European journal of medical genetics 2011;54(3):374-5.
2011: Sultan Cingöz; Iben Bache; Lise Bjerglund; Hans-Hilger Ropers; Niels Tommerup; Hanne Jensen; Karen Brøndum-Nielsen; Zeynep Tümer
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
American journal of medical genetics. Part A 2011;155A(1):203-6.
2009: Litu Zhang; Zeynep Tümer; Kjeld Møllgård; Gotthold Barbi; Eva Rossier; Eske Bendsen; Rikke Steensbjerre Møller; Reinhard Ullmann; Jian He; Nickolas Papadopoulos; Niels Tommerup; Lars Larsen
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.
European journal of human genetics : EJHG 2009;17(8):1010-8.
2008: Fikret Erdogan; L A Larsen; L Zhang; Zeynep Tümer; Niels Tommerup; Wei Chen; J R Jacobsen; M Schubert; J Jurkatis; Andreas Tzschach; Hans-Hilger Ropers; Reinhard Ullmann
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
Journal of medical genetics 2008;45(11):704-9.
2008: S S Kaalund; Rikke Steensbjerre Møller; A Tészás; M Miranda; G Kosztolanyi; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Investigation of 4q-deletion in two unrelated patients using array CGH.
American journal of medical genetics. Part A 2008;146A(18):2431-4.
2008: E Engenheiro; Rikke Steensbjerre Møller; M Pinto; G Soares; M Nikanorova; Isabel M Carreira; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Mowat-Wilson syndrome: an underdiagnosed syndrome?
Clinical genetics 2008;73(6):579-84.
2008: Rikke Steensbjerre Møller; Sabine Kübart; Maria Hoeltzenbein; Babett Heye; Ida Vogel; Christian P Hansen; Corinna Menzel; Reinhard Ullmann; Niels Tommerup; Hans-Hilger Ropers; Zeynep Tümer; Vera Kalscheuer
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
American journal of human genetics 2008;82(5):1165-70.
2008: Janni Vestergaard; Allan Lind-Thomsen; Mikkel W Pedersen; Hanne Ostergaard Jarmer; Mads Bak; Lis Hasholt; Niels Tommerup; Zeynep Tümer; Lars Larsen
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.
DNA and cell biology 2008;27(5):251-6.
2008: Mette Gilling; Marlene Briciet Lauritsen; Morten Møller; Karen Friis Henriksen; Astrid Vicente; Guiomar Oliveira; Christina Cintin; Hans Eiberg; Paal Skytt Andersen; Ole Mors; Thomas Rosenberg; Karen Brøndum-Nielsen; Rodney M J Cotterill; Claes Lundsteen; Hans-Hilger Ropers; Reinhard Ullmann; Iben Bache; Zeynep Tümer; Niels Tommerup
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
European journal of human genetics : EJHG 2008;16(3):312-9.
2008: Fikret Erdogan; J M Belloso; Elisabeth Gabau; K D Ajbro; Miriam Guitart; Hans-Hilger Ropers; Niels Tommerup; Reinhard Ullmann; Zeynep Tümer; Lars Larsen
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.
European journal of medical genetics 2008;51(1):81-6.
2007: Rikke Steensbjerre Møller; Christian Pilebaek Hansen; G D Jackson; Reinhard Ullmann; H H Ropers; Niels Tommerup; Zeynep Tümer
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
Clinical genetics 2007;72(6):593-8.
2007: E Engenheiro; Jorge Saraiva; Isabel M Carreira; L Ramos; Hans-Hilger Ropers; E Silva; Niels Tommerup; Zeynep Tümer
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
Clinical genetics 2007;72(5):464-70.
2007: Linda P Jakobsen; Reinhard Ullmann; Steen B Christensen; Karl Erik Jensen; Kirsten Mølsted; Karen F Henriksen; Claus Hansen; Mary A Knudsen; Lars Larsen; Niels Tommerup; Zeynep Tümer
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.
Journal of medical genetics 2007;44(6):381-6.
2007: Jose M Belloso; Iben Bache; Miriam Guitart; Maria Rosa Caballin; Christina Halgren; Maria Kirchhoff; Hans-Hilger Ropers; Niels Tommerup; Zeynep Tümer
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.
European journal of human genetics : EJHG 2007;15(6):711-3.
2007: Christian Pilebaek Hansen; Rikke Steensbjerre Møller; Zeynep Tümer; Niels Tommerup
[The genetic basis of epilepsy. The Danish Epilepsy Society].
Ugeskrift for laeger 2007;169(12):1102.
2006: S Cingoz; Anne-Marie Bisgaard; Iben Bache; Thue Bryndorf; M Kirchoff; W Petersen; Hans-Hilger Ropers; Nicole M C Maas; G Van Buggenhout; Niels Tommerup; Zeynep Tümer
4q35 deletion and 10p15 duplication associated with immunodeficiency.
American journal of medical genetics. Part A 2006;140(20):2231-5.
2006: Anne-Marie Bisgaard; Maria Kirchhoff; Zeynep Tümer; Birgit Jepsen; Karen Brøndum-Nielsen; Monika Cohen; Bente Hamborg-Petersen; Thue Bryndorf; Niels Tommerup; Flemming Skovby
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.
American journal of medical genetics. Part A 2006;140(20):2180-7.
2006: Janni Vestergaard; Mikkel W Pedersen; Nina Pedersen; Christian Ensinger; Zeynep Tümer; Niels Tommerup; Hans Skovgaard Poulsen; Lars Larsen
Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.
Lung cancer (Amsterdam, Netherlands) 2006;52(3):281-90.
2006: Marie Baekvad-Hansen; Zeynep Tümer; Alicia Delicado; Fikret Erdogan; Niels Tommerup; Lars Larsen
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.
American journal of medical genetics. Part A 2006;140(5):427-33.
2006: B Dlugaszewska; Asli N Silahtaroglu; Corinna Menzel; Sabine Kübart; M Cohen; Stefan Mundlos; Zeynep Tümer; K Kjaer; U Friedrich; Hans-Hilger Ropers; Niels Tommerup; H Neitzel; Vera Kalscheuer
Breakpoints around the HOXD cluster result in various limb malformations.
Journal of medical genetics 2006;43(2):111-8.
2006: Litu Zhang; Zeynep Tümer; Joes Ramsøe Jacobsen; Paal Skytt Andersen; Niels Tommerup; Lars Larsen
Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.
Genetic testing 2006;10(4):277-80.
2005: Lisbeth Birk Møller; Jens bukrinsky; Anne Mølgaard; Marianne Paulsen; Connie Lund; Zeynep Tümer; Sine Larsen; Nina Horn
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Human mutation 2005;26(2):84-93.
2005: Zeynep Tümer; A M Henriksen; Iben Bache; Kim Brixen; Vera Kalscheuer; V Kalschauer; N Illum; K Rasmussen; Lars Larsen; Niels Tommerup
Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome.
American journal of medical genetics. Part A 2005;135(3):339-41.
2005: Marie Sogaard; Zeynep Tümer; Helle Hjalgrim; Johanne M D Hahnemann; Birgitte Friis; Paal Ledaal; Vibeke Faurholt Pedersen; Peter Baekgaard; Niels Tommerup; Sultan Cingöz; Morten Duno; karen brondum-nielsen
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.
BMC medical genetics 2005;6():21.
2005: S E Boonen; D Stahl; S Kreiborg; T Rosenberg; V Kalscheuer; Lars Larsen; Niels Tommerup; Karen Brøndum-Nielsen; Zeynep Tümer
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
American journal of medical genetics. Part A 2005;132A(3):324-8.
2004: Zeynep Tümer; TL Harboe; E Blennow; Vera Kalscheuer; Niels Tommerup; Karen Brøndum-Nielsen
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
American journal of medical genetics. Part A 2004;130A(4):340-4.
2004: Asli N Silahtaroglu; Lars Riff Jensen; TL Harboe; P Horn; Christian Bendixen; Niels Tommerup; Zeynep Tümer
Sequencing and mapping of the porcine CCS gene.
Animal genetics 2004;35(4):353-4.
2004: Jens Michael Hertz; B Sivertsen; Asli N Silahtaroglu; Merete Bugge; Vera Kalscheuer; A Weber; Jutta Wirth; Hans-Hilger Ropers; Niels Tommerup; Zeynep Tümer
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).
Journal of medical genetics 2004;41(3):e25.
2004: Barbara Panasiuk; Barbara Panasiuk; Zeynep Tümer; Pawel Stankiewicz; Asli N Silahtaroglu; James R Lupski; Zuzana Zemanova; Beata Stasiewicz-Jarocka; Ewa Hubert; Eugeniusz Tarasów; Waldemar Famulski; Barbara Zadrozna-Tołwińska; Ewa Wasilewska; Maria Kirchhoff; Vera Kalscheuer; Kyra Michalova; Niels Tommerup
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
American journal of medical genetics. Part A 2004;124A(2):179-91.
2004: Lena Poulsen; Lisbeth Birk Møller; Katie Plunkett; John Belmont; Zeynep Tümer; Nina Horn
X-linked Menkes disease: first documented report of germ-line mosaicism.
Genetic testing 2004;8(3):286-91.
2004: Ann Marie Henriksen; Zeynep Tümer; Niels Tommerup; Lisbeth Tranebjaerg; Lars Larsen
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.
Genetic testing 2004;8(4):404-6.
2003: Zeynep Tümer; Lisbeth Birk Møller; Nina Horn
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
Human mutation 2003;22(6):457-64.
2003: TL Harboe; Lars Riff Jensen; Claus Hansen; P Horn; Christian Bendixen; Niels Tommerup; Zeynep Tümer
Cloning, characterization and chromosomal localization of the Sus scrofa SLC31A1 gene.
Animal genetics 2003;34(1):59-61.
2002: Lena Poulsen; Nina Horn; H Heilstrup; Connie Lund; Zeynep Tümer; Lisbeth Birk Møller
X-linked recessive Menkes disease: identification of partial gene deletions in affected males.
Clinical genetics 2002;62(6):449-57.
2002: Asli N Silahtaroglu; karen brondum-nielsen; Ole Gredal; Lene M Werdelin; Marios Panas; Michael B Petersen; Niels Tommerup; Zeynep Tümer
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
BMC genetics 2002;3():5.
2002: Zeynep Tümer; Peter J P Croucher; Lars Riff Jensen; Jochen Hampe; Claus Hansen; Vera Kalscheuer; Hans-Hilger Ropers; Niels Tommerup; Stefan Schreiber
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).
Gene 2002;288(1-2):179-85.
2000: Maria Kirchhoff; H Rose; J Maahr; Tommy Gerdes; Merete Bugge; Niels Tommerup; Zeynep Tümer; James Lespinasse; Peter Koch Jensen; Jutta Wirth; Claes Lundsteen
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
European journal of human genetics : EJHG 2000;8(9):661-8.
2000: Lisbeth Birk Møller; Zeynep Tümer; Connie Lund; C Petersen; T Cole; R Hanusch; Jörg Seidel; Lars Riff Jensen; Nina Horn
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
American journal of human genetics 2000;66(4):1211-20.
2000: Nanna Dahl Rendtorff; Henrik Vissing; Zeynep Tümer; Asli N Silahtaroglu; Niels Tommerup
Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23.
Cytogenetics and cell genetics 2000;89(3-4):279-80.
2000: TL Harboe; Zeynep Tümer; Claus Hansen; Niels A Jensen; Niels Tommerup
Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation.
Cytogenetics and cell genetics 2000;89(3-4):156-7.
1999: PY Jensen; Nicklas Bonander; Nina Horn; Zeynep Tümer; Ole Farver
Expression, purification and copper-binding studies of the first metal-binding domain of Menkes protein.
European journal of biochemistry / FEBS 1999;264(3):890-6.
1999: Asli N Silahtaroglu; Frans A Hol; Peter Koch Jensen; Martin Erdel; Hans-Christoph Duba; MP Geurds; Nine V A M Knoers; Edwin C M Mariman; Zeynep Tümer; Gerd Utermann; Jutta Wirth; Merete Bugge; Niels Tommerup
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
European journal of human genetics : EJHG 1999;7(1):68-76.
1999: Zeynep Tümer; Lisbeth Birk Møller; Nina Horn
Mutation spectrum of ATP7A, the gene defective in Menkes disease.
Advances in experimental medicine and biology 1999;448():83-95.
1998: Robert P Jankov; C F Boerkoel; Jonathan Hellmann; Wilma L Sirkin; Zeynep Tümer; Nina Horn; Annette Feigenbaum
Lethal neonatal Menkes' disease with severe vasculopathy and fractures.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(12):1297-300.
1998: Zeynep Tümer; Nina Horn
Menkes disease: underlying genetic defect and new diagnostic possibilities.
Journal of inherited metabolic disease 1998;21(5):604-12.
1998: Asli N Silahtaroglu; Seniha Hacihanefioglu; GS Güven; Asim Cenani; Jutta Wirth; Niels Tommerup; Zeynep Tümer
Not para-, not peri-, but centric inversion of chromosome 12.
Journal of medical genetics 1998;35(8):682-4.
1998: PY Jensen; Nicklas Bonander; Göran Karlsson; Nina Horn; Zeynep Tümer; Ole Farver
Investigation of the copper binding sites in the Menkes disease protein, ATP7A. SSIEM Award. Society of the Study of Inborn Errors of Metabolism.
Journal of inherited metabolic disease 1998;21(3):195-8.
1998: John Christodoulou; D M Danks; Bibudhendra Sarkar; K E Baerlocher; R Casey; Nina Horn; Zeynep Tümer; Joe T R Clarke
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
American journal of medical genetics 1998;76(2):154-64.
1998: Zeynep Tümer; Daynna J Wolff; Asli N Silahtaroglu; A Orum; Karen Brøndum-Nielsen
Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes.
American journal of medical genetics 1998;76(1):45-50.
1998: Burcak Vural; Mehves Poda; E Atlioglu; O Kolusayin; Asim Cenani; N Morling; Zeynep Tümer
Turkish population data on the short tandem repeat locus TPOX.
International journal of legal medicine 1998;111(2):105-6.
1997: Zeynep Tümer; Nina Horn
Menkes disease: recent advances and new aspects.
Journal of medical genetics 1997;34(4):265-74.
1997: Zeynep Tümer; Connie Lund; J Tolshave; Burcak Vural; T Tønnesen; Nina Horn
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
American journal of human genetics 1997;60(1):63-71.
1996: Zeynep Tümer; Nina Horn
Menkes disease: recent advances and new insights into copper metabolism.
Annals of medicine 1996;28(2):121-9.
1996: Zeynep Tümer; Nina Horn; T Tønnesen; J Christodoulou; Joe T R Clarke; Bibudhendra Sarkar
Early copper-histidine treatment for Menkes disease.
Nature genetics 1996;12(1):11-3.
1995: Asli N Silahtaroglu; Seniha Hacihanefioglu; S Yilmaz; Y Tarkan; Asim Cenani; Zeynep Tümer
A small supernumerary marker chromosome X identified by in situ hybridization.
Clinical genetics 1995;47(5):270-3.
1995: Zeynep Tümer; Burcak Vural; T Tønnesen; J Chelly; Anthony P Monaco; Nina Horn
Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
Genomics 1995;26(3):437-42.
1995: Zeynep Tümer; A Berg; M Mikkelsen
Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences.
Human genetics 1995;95(3):299-302.
1994: Zeynep Tümer; T Tønnesen; J Böhmann; W Marg; Nina Horn
First trimester prenatal diagnosis of Menkes disease by DNA analysis.
Journal of medical genetics 1994;31(8):615-7.
1994: A M George; V Reed; P Glenister; J Chelly; Zeynep Tümer; Nina Horn; Anthony P Monaco; Y Boyd
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.
Genomics 1994;22(1):27-35.
1994: Zeynep Tümer; T Tønnesen; Nina Horn
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.
Journal of inherited metabolic disease 1994;17(3):267-70.
1993: Joachim Kreuder; A Otten; H Fuder; Zeynep Tümer; T Tønnesen; Nina Horn; D Dralle
Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.
European journal of pediatrics 1993;152(10):828-32.
1993: Niels Tommerup; Zeynep Tümer; T Tønnesen; Nina Horn
A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.
Journal of medical genetics 1993;30(4):314-5.
1993: J Chelly; Zeynep Tümer; T Tønnesen; A Petterson; Y Ishikawa-Brush; Niels Tommerup; Nina Horn; Anthony P Monaco
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
Nature genetics 1993;3(1):14-9.
1993: Asli N Silahtaroglu; Zeynep Tümer; T Kristensen; L Sottrup-Jensen; Niels Tommerup
Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes.
Cytogenetics and cell genetics 1993;62(4):214-6.
1992: Nina Horn; T Tønnesen; Zeynep Tümer
Menkes disease: an X-linked neurological disorder of the copper metabolism.
Brain pathology (Zurich, Switzerland) 1992;2(4):351-62.
1992: Zeynep Tümer; J Chelly; Niels Tommerup; Y Ishikawa-Brush; T Tønnesen; Anthony P Monaco; Nina Horn
Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.
Human molecular genetics 1992;1(7):483-9.
1992: Zeynep Tümer; Niels Tommerup; T Tønnesen; Joachim Kreuder; I W Craig; Nina Horn
Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.
Human genetics 1992;88(6):668-72.