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Niels Tommerup

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Hilhorst-Hofstee Yvonne; Tümer Zeynep; Born Peter; Knijnenburg Jeroen; Hansson Kerstin; Yatawara Vindhya; Steensberg Jesper; Ullmann Reinhard; Arkesteijn Ger; Tommerup Niels; Larsen Lars Allan
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.
Zhang Litu; Tümer Zeynep; Møllgård Kjeld; Barbi Gotthold; Rossier Eva; Bendsen Eske; Møller Rikke Steensbjerre; Ullmann Reinhard; He Jian; Papadopoulos Nickolas; Tommerup Niels; Larsen Lars Allan
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.
Kjaer Klaus W; Tiner Mehmet; Cingoz Sultan; Karatosun Vasfi; Tommerup Niels; Mundlos Stefan; Gunal Izge
A novel subtype of distal symphalangism affecting only the 4th finger.

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2009: Hilhorst-Hofstee Yvonne; Tümer Zeynep; Born Peter; Knijnenburg Jeroen; Hansson Kerstin; Yatawara Vindhya; Steensberg Jesper; Ullmann Reinhard; Arkesteijn Ger; Tommerup Niels; Larsen Lars Allan
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.
American journal of medical genetics. Part A 2009;149A(8):1830-3.
2009: Zhang Litu; Tümer Zeynep; Møllgård Kjeld; Barbi Gotthold; Rossier Eva; Bendsen Eske; Møller Rikke Steensbjerre; Ullmann Reinhard; He Jian; Papadopoulos Nickolas; Tommerup Niels; Larsen Lars Allan
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.
2009: Kjaer Klaus W; Tiner Mehmet; Cingoz Sultan; Karatosun Vasfi; Tommerup Niels; Mundlos Stefan; Gunal Izge
A novel subtype of distal symphalangism affecting only the 4th finger.
American journal of medical genetics. Part A 2009;149A(7):1571-3.
2009: Klitten Laura L; Tommerup Niels; Hjalgrim Helle; Møller Rikke S
9q Subtelomeric deletion syndrome with diaphragmatic hernia.
American journal of medical genetics. Part A 2009;149A(5):1086-8.
2009: Muhammad Farooq; Mahmood Baig Shahid; Hansen Lars; Sajid Hussain Muhammad; Anjum Inayat Iram; Aslam Muhammad; Anver Qureshi Javed; Toilat Muhammad; Kirst Elisabeth; Wajid Muhammad; Nürnberg Peter; Eiberg Hans; Tommerup Niels; Kjaer Klaus W
Compound heterozygous ASPM mutations in Pakistani MCPH families.
American journal of medical genetics. Part A 2009;149A(5):926-30.
2009: Jakobsen Linda P; Borup Rehannah; Vestergaard Janni; Larsen Lars A; Lage Kasper; Maroun Lisa Leth; Kjaer Inger; Niemann Carsten U; Andersen Mikael; Knudsen Mary A; Møllgård Kjeld; Tommerup Niels
Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development.
Experimental & molecular medicine 2009;41(2):77-85.
2009: Kalscheuer Vera M; Musante Luciana; Fang Cheng; Hoffmann Kirsten; Fuchs Celine; Carta Eloisa; Deas Emma; Venkateswarlu Kanamarlapudi; Menzel Corinna; Ullmann Reinhard; Tommerup Niels; Dalprà Leda; Tzschach Andreas; Selicorni Angelo; Lüscher Bernhard; Ropers Hans-Hilger; Harvey Kirsten; Harvey Robert J
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Human mutation 2009;30(1):61-8.
2008: Erdogan F; Larsen L A; Zhang L; Tümer Z; Tommerup N; Chen W; Jacobsen J R; Schubert M; Jurkatis J; Tzschach A; Ropers H-H; Ullmann R
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: Tészás Alexandra; Møller Rikke S; Kellermayer Richard; Czakó Márta; Kjaer Klaus W; Ullmann Reinhard; Melegh Béla; Tommerup Niels; Kosztolányi György
A cryptic unbalanced translocation resulting in del 13q and dup 15q.
American journal of medical genetics. Part A 2008;146A(19):2570-3.
2008: Kaalund S S; Møller R S; Tészás A; Miranda M; Kosztolanyi G; Ullmann R; Tommerup N; Tümer Z
Investigation of 4q-deletion in two unrelated patients using array CGH.
American journal of medical genetics. Part A 2008;146A(18):2431-4.
2008: de Medeiros Filipe; Hansen Lars; Mawlad Evete; Eiberg Hans; Asklund Camilla; Tommerup Niels; Jakobsen Linda P
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
American journal of medical genetics. Part A 2008;146A(12):1605-8.
2008: Engenheiro E; Møller R S; Pinto M; Soares G; Nikanorova M; Carreira I M; Ullmann R; Tommerup N; Tümer Z
Mowat-Wilson syndrome: an underdiagnosed syndrome?
Clinical genetics 2008;73(6):579-84.
2008: Møller Rikke S; Schneider Lizette M; Hansen Christian P; Bugge Merete; Ullmann Reinhard; Tommerup Niels; Tümer Zeynep
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
Epilepsia 2008;49(6):1091-4.
2008: Møller Rikke S; Kübart Sabine; Hoeltzenbein Maria; Heye Babett; Vogel Ida; Hansen Christian P; Menzel Corinna; Ullmann Reinhard; Tommerup Niels; Ropers Hans-Hilger; Tümer Zeynep; Kalscheuer Vera M
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: Vestergaard Janni; Lind-Thomsen Allan; Pedersen Mikkel W; Jarmer Hanne Ostergaard; Bak Mads; Hasholt Lis; Tommerup Niels; Tümer Zeynep; Larsen Lars Allan
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: Bak Mads; Silahtaroglu Asli; Møller Morten; Christensen Mette; Rath Martin F; Skryabin Boris; Tommerup Niels; Kauppinen Sakari
MicroRNA expression in the adult mouse central nervous system.
RNA (New York, N.Y.) 2008;14(3):432-44.
2008: Gilling Mette; Lauritsen Marlene Briciet; Møller Morten; Henriksen Karen Friis; Vicente Astrid; Oliveira Guiomar; Cintin Christina; Eiberg Hans; Andersen Paal Skyt; Mors Ole; Rosenberg Thomas; Brøndum-Nielsen Karen; Cotterill Rodney M J; Lundsteen Claes; Ropers Hans-Hilger; Ullmann Reinhard; Bache Iben; Tümer Zeynep; Tommerup Niels
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: Torarinsson Elfar; Yao Zizhen; Wiklund Eric D; Bramsen Jesper B; Hansen Claus; Kjems Jørgen; Tommerup Niels; Ruzzo Walter L; Gorodkin Jan
Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions.
Genome research 2008;18(2):242-51.
2008: Erdogan F; Belloso J M; Gabau E; Ajbro K D; Guitart M; Ropers H H; Tommerup N; Ullmann R; Tümer Z; Larsen L A
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: Møller R S; Hansen C P; Jackson G D; Ullmann R; Ropers H H; Tommerup N; Tümer Z
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: Jakobsen Linda P; Ullmann Reinhard; Kjaer Klaus W; Knudsen Mary A; Tommerup Niels; Eiberg Hans
Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.
American journal of medical genetics. Part A 2007;143A(22):2716-21.
2007: Mefford Heather C; Clauin Severine; Sharp Andrew J; Moller Rikke S; Ullmann Reinhard; Kapur Raj; Pinkel Dan; Cooper Gregory M; Ventura Mario; Ropers H Hilger; Tommerup Niels; Eichler Evan E; Bellanne-Chantelot Christine
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
American journal of human genetics 2007;81(5):1057-69.
2007: Engenheiro E; Saraiva J; Carreira I; Ramos L; Ropers H H; Silva E; Tommerup N; Tümer Z
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
Clinical genetics 2007;72(5):464-70.
2007: Bugge Merete; Collins Andrew; Hertz Jens Michael; Eiberg Hans; Lundsteen Claes; Brandt Carsten A; Bak Mads; Hansen Claus; Delozier Celia D; Lespinasse James; Tranebjaerg Lisbeth; Hahnemann Johanne M D; Rasmussen Kirsten; Bruun-Petersen Gert; Duprez Laurence; Tommerup Niels; Petersen Michael B
Non-disjunction of chromosome 13.
Human molecular genetics 2007;16(16):2004-10.
2007: Laursen Steen B; Møllgård Kjeld; Olesen Christian; Oliveri Roberto S; Brøchner Christian B; Byskov Anne Grete; Andersen Anders Nyboe; Høyer Poul Erik; Tommerup Niels; Yding Andersen Claus
Regional differences in expression of specific markers for human embryonic stem cells.
Reproductive biomedicine online 2007;15(1):89-98.
2007: Bache Iben; Nielsen Nete M; Rostgaard Klaus; Tommerup Niels; Frisch Morten
Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements.
Arthritis and rheumatism 2007;56(7):2402-9.
2007: Jakobsen Linda P; Ullmann Reinhard; Christensen Steen B; Jensen Karl Erik; Mølsted Kirsten; Henriksen Karen F; Hansen Claus; Knudsen Mary A; Larsen Lars A; Tommerup Niels; Tümer Zeynep
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.
Journal of medical genetics 2007;44(6):381-6.
2007: Belloso Jose M; Bache Iben; Guitart Miriam; Caballin Maria Rosa; Halgren Christina; Kirchhoff Maria; Ropers Hans-Hilger; Tommerup Niels; Tümer Zeynep
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: Kalscheuer Vera M; FitzPatrick David; Tommerup Niels; Bugge Merete; Niebuhr Erik; Neumann Luitgard M; Tzschach Andreas; Shoichet Sarah A; Menzel Corinna; Erdogan Fikret; Arkesteijn Ger; Ropers Hans-Hilger; Ullmann Reinhard
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Human genetics 2007;121(3-4):501-9.
2007: Olesen C; Nyeng P; Kalisz M; Jensen T H; Møller M; Tommerup N; Byskov A G
Global gene expression analysis in fetal mouse ovaries with and without meiosis and comparison of selected genes with meiosis in the testis.
Cell and tissue research 2007;328(1):207-21.
2007: Bache Iben; Brondum-Nielsen Karen; Tommerup Niels
Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(3):185-7.
2007: Hansen Christian Pilebaek; Møller Rikke; Tümer Zeynep; Tommerup Niels;
[The genetic basis of epilepsy. The Danish Epilepsy Society]
Ugeskrift for laeger 2007;169(12):1102.
2007: Lage Kasper; Karlberg E Olof; Størling Zenia M; Olason Páll I; Pedersen Anders G; Rigina Olga; Hinsby Anders M; Tümer Zeynep; Pociot Flemming; Tommerup Niels; Moreau Yves; Brunak Søren
A human phenome-interactome network of protein complexes implicated in genetic disorders.
Nature biotechnology 2007;25(3):309-16.
2007: Silahtaroglu Asli N; Nolting Dorrit; Dyrskjøt Lars; Berezikov Eugene; Møller Morten; Tommerup Niels; Kauppinen Sakari
Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification.
Nature protocols 2007;2(10):2520-8.
2006: Bak Mads; Conley Lene; Hedegaard Jakob; Larsen Lars Allan; Sørensen Peter; Bendixen Christian; Tommerup Niels
Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA.
Analytical biochemistry 2006;358(1):111-9.
2006: Cingoz S; Bisgaard A M; Bache I; Bryndorf T; Kirchoff M; Petersen W; Ropers H-H; Maas N; Van Buggenhout G; Tommerup N; Tümer Z
4q35 deletion and 10p15 duplication associated with immunodeficiency.
American journal of medical genetics. Part A 2006;140(20):2231-5.
2006: Bisgaard Anne-Marie; Kirchhoff Maria; Tümer Zeynep; Jepsen Birgit; Brøndum-Nielsen Karen; Cohen Monika; Hamborg-Petersen Bente; Bryndorf Thue; Tommerup Niels; Skovby Flemming
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: Vestergaard Janni; Pedersen Mikkel W; Pedersen Nina; Ensinger Christian; Tümer Zeynep; Tommerup Niels; Poulsen Hans Skovgaard; Larsen Lars Allan
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: Gilling Mette; Dullinger Jörn S; Gesk Stefan; Metzke-Heidemann Simone; Siebert Reiner; Meyer Thomas; Brondum-Nielsen Karen; Tommerup Niels; Ropers Hans-Hilger; Tumer Zeynep; Kalscheuer Vera M; Thomas N Simon
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
American journal of human genetics 2006;78(5):878-83.
2006: Wu Qingfa; Tommerup Niels; Ming Wang San; Hansen Lars
A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens.
Gene 2006;371(2):167-73.
2006: Bache Iben; Hjorth Mads; Bugge Merete; Holstebroe Søren; Hilden Jørgen; Schmidt Lone; Brondum-Nielsen Karen; Bruun-Petersen Gert; Jensen Peter K A; Lundsteen Claes; Niebuhr Erik; Rasmussen Kirsten; Tommerup Niels
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases.
European journal of human genetics : EJHG 2006;14(4):410-7.
2006: Jakobsen Linda P; Knudsen Mary A; Lespinasse James; García Ayuso Carmen; Ramos Carmen; Fryns Jean-Pierre; Bugge Merete; Tommerup Niels
The genetic basis of the Pierre Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(2):155-9.
2006: Baekvad-Hansen Marie; Tümer Zeynep; Delicado Alicia; Erdogan Fikret; Tommerup Niels; Larsen Lars A
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: Bache Iben; Hasle Henrik; Tommerup Niels; Olsen Jørgen H
Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement.
Genes, chromosomes & cancer 2006;45(3):231-46.
2006: Kjaer K W; Eiberg H; Hansen L; van der Hagen C B; Rosendahl K; Tommerup N; Mundlos S
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
Journal of medical genetics 2006;43(3):225-31.
2006: Tzschach A; Hoffmann K; Hoeltzenbein M; Bache I; Tommerup N; Bommer C; Körner H; Kalscheuer V; Ropers H H
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris.
Clinical genetics 2006;69(2):189-93.
2006: Dlugaszewska B; Silahtaroglu A; Menzel C; Kübart S; Cohen M; Mundlos S; Tümer Z; Kjaer K; Friedrich U; Ropers H-H; Tommerup N; Neitzel H; Kalscheuer V M
Breakpoints around the HOXD cluster result in various limb malformations.
Journal of medical genetics 2006;43(2):111-8.
2006: Hagens Olivier; Dubos Aline; Abidi Fatima; Barbi Gotthold; Van Zutven Laura; Hoeltzenbein Maria; Tommerup Niels; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; van Bokhoven Hans; Gécz Jozef; Dollfus Hélène; Ropers Hans-Hilger; Schwartz Charles E; de Cassia Stocco Dos Santos Rita; Kalscheuer Vera; Hanauer André
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
2006: Zhang Litu; Tümer Zeynep; Jacobsen Joes Ramsøe; Andersen Paal Skytt; Tommerup Niels; Larsen Lars Allan
Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.
Genetic testing 2006;10(4):277-80.
2005: Kjaer Klaus W; Hansen Lars; Eiberg Hans; Utkus Algirdas; Skovgaard Lene T; Leicht Pernille; Opitz John M; Tommerup Niels
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
American journal of medical genetics. Part A 2005;138(4):328-39.
2005: Shoichet Sarah A; Kunde Stella-Amrei; Viertel Petra; Schell-Apacik Can; von Voss Hubertus; Tommerup Niels; Ropers Hans-Hilger; Kalscheuer Vera M
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
Human genetics 2005;117(6):536-44.
2005: Kjaer Klaus W; Hansen Lars; Eiberg Hans; Christensen Knud Stenild; Opitz John M; Tommerup Niels
Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG.
American journal of medical genetics. Part A 2005;137(2):148-52.
2005: Borg Isabella; Freude Kristine; Kübart Sabine; Hoffmann Kirsten; Menzel Corinna; Laccone Franco; Firth Helen; Ferguson-Smith Malcolm A; Tommerup Niels; Ropers Hans-Hilger; Sargan David; Kalscheuer Vera M
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
European journal of human genetics : EJHG 2005;13(8):921-7.
2005: Tümer Z; Henriksen A M; Bache I; Brixen K; Kalscheuer V; Illum N; Rasmussen K; Larsen L A; Tommerup N
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: Sogaard Marie; Tümer Zeynep; Hjalgrim Helle; Hahnemann Johanne; Friis Birgitte; Ledaal Paal; Pedersen Vibeke Faurholt; Baekgaard Peter; Tommerup Niels; Cingöz Sultan; Duno Morten; Brondum-Nielsen Karen
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: Kjaer K W; Hansen L; Schwabe G C; Marques-de-Faria A P; Eiberg H; Mundlos S; Tommerup N; Rosenberg T
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
Journal of medical genetics 2005;42(4):292-8.
2005: Lindquist S G; Kirchhoff M; Lundsteen C; Pedersen W; Erichsen G; Kristensen K; Lillquist K; Smedegaard H H; Skov L; Tommerup N; Brøndum-Nielsen K
Further delineation of the 22q13 deletion syndrome.
Clinical dysmorphology 2005;14(2):55-60.
2005: Boonen S E; Stahl D; Kreiborg S; Rosenberg T; Kalscheuer V; Larsen L A; Tommerup N; Brøndum-Nielsen K; Tümer Z
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
American journal of medical genetics. Part A 2005;132A(3):324-8.
2004: Bache Iben; Assche Elvire Van; Cingoz Sultan; Bugge Merete; Tümer Zeynep; Hjorth Mads; Lundsteen Claes; Lespinasse James; Winther Kirsten; Niebuhr Anita; Kalscheuer Vera; Liebaers Inge; Bonduelle Maryse; Tournaye Herman; Ayuso Carmen; Barbi Gotthold; Blennow Elisabeth; Bourrouillou Georges; Brondum-Nielsen Karen; Bruun-Petersen Gert; Croquette Marie-Francoise; Dahoun Sophie; Dallapiccola Bruno; Davison Val; Delobel Bruno; Duba Hans-Christoph; Duprez Laurence; Ferguson-Smith Malcolm; Fitzpatrick David R; Grace Elizabeth; Hansmann Ingo; Hultén Maj; Jensen Peter Ka; Jonveaux Philippe; Kristoffersson Ulf; Lopez-Pajares Isidora; McGowan-Jordan Jean; Murken Jan; Orera Maria; Parkin Tony; Passarge Eberhard; Ramos Carmen; Rasmussen Kirsten; Schempp Werner; Schubert Regine; Schwinger Eberhard; Shabtai Fiorella; Smith Kim; Stallings Raymond; Stefanova Margarita; Tranebjerg Lisbeth; Turleau Catherine; van der Hagen Carl Birger; Vekemans Michel; Vokac Nadja Kokalj; Wagner Klaus; Wahlstroem Jan; Zelante Leopoldo; Tommerup Niels
An excess of chromosome 1 breakpoints in male infertility.
European journal of human genetics : EJHG 2004;12(12):993-1000.
2004: Tümer Z; Harboe T L; Blennow E; Kalscheuer V M; Tommerup N; Brøndum-Nielsen K
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
American journal of medical genetics. Part A 2004;130A(4):340-4.
2004: Silahtaroglu A N; Jensen L R; Harboe T L; Horn P; Bendixen C; Tommerup N; Tümer Z
Sequencing and mapping of the porcine CCS gene.
Animal genetics 2004;35(4):353-4.
2004: Bak Mads; Hansen Claus; Henriksen Karen Friis; Hansen Lars; Pakkenberg Henning; Eiberg Hans; Tommerup Niels
Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.
Brain research. Molecular brain research 2004;126(2):207-11.
2004: Kjaer Klaus W; Hansen Lars; Eiberg Hans; Leicht Pernille; Opitz John M; Tommerup Niels
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
American journal of medical genetics. Part A 2004;127A(2):152-7.
2004: Hertz J M; Sivertsen B; Silahtaroglu A; Bugge M; Kalscheuer V; Weber A; Wirth J; Ropers H-H; Tommerup N; Tümer Z
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: Midro Alina T; Panasiuk Barbara; Tümer Zeynep; Stankiewicz Pawel; Silahtaroglu Asli; Lupski James R; Zemanova Zuzana; Stasiewicz-Jarocka Beata; Hubert Ewa; Tarasów Eugeniusz; Famulski Waldemar; Zadrozna-Tolwinska Barbara; Wasilewska Ewa; Kirchhoff Marie; Kalscheuer Vera; Michalova Kyra; Tommerup Niels
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: Henriksen Ann Marie; Tümer Zeynep; Tommerup Niels; Tranebjaerg Lisbeth; Larsen Lars Allan
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.
Genetic testing 2004;8(4):404-6.
2004: Silahtaroglu A; Pfundheller H; Koshkin A; Tommerup N; Kauppinen S
LNA-modified oligonucleotides are highly efficient as FISH probes.
Cytogenetic and genome research 2004;107(1-2):32-7.
2003: Silahtaroglu Asli N; Tommerup Niels; Vissing Henrik
FISHing with locked nucleic acids (LNA): evaluation of different LNA/DNA mixmers.
Molecular and cellular probes 2003;17(4):165-9.
2003: Olesen Christian; Silber Joachim; Eiberg Hans; Ernst Erik; Petersen Karsten; Lindenberg Svend; Tommerup Niels
Mutational analysis of the human FATE gene in 144 infertile men.
Human genetics 2003;113(3):195-201.
2003: Bak Mads; Hansen Claus; Tommerup Niels; Larsen Lars Allan
The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.
Pharmacogenomics 2003;4(4):411-29.
2003: Kalscheuer Vera M; Tao Jiong; Donnelly Andrew; Hollway Georgina; Schwinger Eberhard; Kübart Sabine; Menzel Corinna; Hoeltzenbein Maria; Tommerup Niels; Eyre Helen; Harbord Michael; Haan Eric; Sutherland Grant R; Ropers Hans-Hilger; Gécz Jozef
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
American journal of human genetics 2003;72(6):1401-11.
2003: Harboe T L; Jensen L R; Hansen C; Horn P; Bendixen C; Tommerup N; Tümer Z
Cloning, characterization and chromosomal localization of the Sus scrofa SLC31A1 gene.
Animal genetics 2003;34(1):59-61.
2002: Poulsen T S; Silahtaroglu A N; Gisselø C G; Tommerup N; Johnsen H E
Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B cell malignancies using end sequenced probes.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2002;16(10):2148-55.
2002: Kjaer Klaus Wilbrandt; Hedeboe Jess; Bugge Merete; Hansen Claus; Friis-Henriksen Karen; Vestergaard Maria Baeksted; Tommerup Niels; Opitz John M
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
American journal of medical genetics 2002;110(2):116-21.
2002: Borg I; Squire M; Menzel C; Stout K; Morgan D; Willatt L; O'Brien P C M; Ferguson-Smith M A; Ropers H H; Tommerup N; Kalscheuer V M; Sargan D R
A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation.
Journal of medical genetics 2002;39(6):391-9.
2002: Tümer Zeynep; Croucher Peter J P; Jensen Lars Riff; Hampe Jochen; Hansen Claus; Kalscheuer Vera; Ropers Hans Hilger; Tommerup Niels; Schreiber Stefan
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.
2002: Silahtaroglu Asli N; Brondum-Nielsen Karen; Gredal Ole; Werdelin Lene; Panas Marios; Petersen Michael B; Tommerup Niels; Tümer Zeynep
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
BMC genetics 2002;3():5.
2002: Harboe T L; Tommerup N; Tümer N
Assignment of Zfp100 to murine chromosome 4 band D3/E1 with radiation hybrid mapping.
Cytogenetic and genome research 2002;97(3-4):276A.
2002: Aarenstrup Lene; Falch Anne Marie; Jakobsen Kirsten K; Neve Søren; Henriksen L Linda Ø; Tommerup Niels; Leffers Henrik; Kristiansen Karsten
Expression and post-translational modification of human 4-hydroxy-phenylpyruvate dioxygenase.
Cell biology international 2002;26(7):615-25.
2001: Ehrlich M; Buchanan K L; Tsien F; Jiang G; Sun B; Uicker W; Weemaes C M; Smeets D; Sperling K; Belohradsky B H; Tommerup N; Misek D E; Rouillard J M; Kuick R; Hanash S M
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.
Human molecular genetics 2001;10(25):2917-31.
2001: Olesen C; Larsen N J; Byskov A G; Harboe T L; Tommerup N
Human FATE is a novel X-linked gene expressed in fetal and adult testis.
Molecular and cellular endocrinology 2001;184(1-2):25-32.
2001: Poulsen T S; Silahtaroglu A N; Gisselø C G; Gaarsdal E; Rasmussen T; Tommerup N; Johnsen H E
Detection of illegitimate rearrangement within the immunoglobulin locus on 14q32.3 in B-cell malignancies using end-sequenced probes.
Genes, chromosomes & cancer 2001;32(3):265-74.
2001: Kitsos G; Eiberg H; Economou-Petersen E; Wirtz M K; Kramer P L; Aspiotis M; Tommerup N; Petersen M B; Psilas K
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.
European journal of human genetics : EJHG 2001;9(6):452-7.
2001: Nothwang H G; Kim H G; Aoki J; Geisterfer M; Kübart S; Wegner R D; van Moers A; Ashworth L K; Haaf T; Bell J; Arai H; Tommerup N; Ropers H H; Wirth J
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
Human molecular genetics 2001;10(8):797-806.
2001: Nielsen J B; Henriksen K F; Hansen C; Silahtaroglu A; Schwartz M; Tommerup N
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
European journal of human genetics : EJHG 2001;9(3):178-84.
2001: Tommerup N
[Genetic variation and disease of human beings. The Danish Society of Medical Genetics]
Ugeskrift for laeger 2001;163(12):1711.
2001: Borck G; Wirth J; Hardt T; Tönnies H; Brøndum-Nielsen K; Bugge M; Tommerup N; Nothwang H G; Ropers H H; Haaf T
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.
Journal of medical genetics 2001;38(2):117-21.
2001: Wirth J; Back E; Hüttenhofer A; Nothwang H G; Lich C; Gross S; Menzel C; Schinzel A; Kioschis P; Tommerup N; Ropers H H; Horsthemke B; Buiting K
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
Human molecular genetics 2001;10(3):201-10.
2001: Rendtorff N D; Frödin M; Attié-Bitach T; Vekemans M; Tommerup N
Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation.
Genomics 2001;71(1):40-52.
2001: Olesen C; Hansen C; Bendsen E; Byskov A G; Schwinger E; Lopez-Pajares I; Jensen P K; Kristoffersson U; Schubert R; Van Assche E; Wahlstroem J; Lespinasse J; Tommerup N
Identification of human candidate genes for male infertility by digital differential display.
Molecular human reproduction 2001;7(1):11-20.
2001: Bak M; Hansen C; Friis Henriksen K; Tommerup N
The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21-->q31.3.
Cytogenetics and cell genetics 2001;92(3-4):300-3.
2000: Bugge M; Bruun-Petersen G; Brøndum-Nielsen K; Friedrich U; Hansen J; Jensen G; Jensen P K; Kristoffersson U; Lundsteen C; Niebuhr E; Rasmussen K R; Rasmussen K; Tommerup N
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.
Journal of medical genetics 2000;37(11):858-65.
2000: Kirchhoff M; Rose H; Maahr J; Gerdes T; Bugge M; Tommerup N; Tümer Z; Lespinasse J; Jensen P K; Wirth J; Lundsteen C
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: Tommerup N
[Sequencing of the first human chromosome. The Danish Society of Medical Genetics]
Ugeskrift for laeger 2000;162(12):1710.
2000: Nothwang H G; Schröer A; van der Maarel S; Kübart S; Schneider S; Riesselmann L; Menzel C; Hinzmann B; Vogt D; Rosenthal A; Fryns J; Tommerup N; Haaf T; Ropers H H; Wirth J
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.
Cytogenetics and cell genetics 2000;90(1-2):126-33.
2000: Rendtorff N D; Vissing H; Tümer Z; Silahtaroglu A; Tommerup N
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: Harboe T L; Tümer Z; Hansen C; Jensen N A; Tommerup N
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: Xu G L; Bestor T H; Bourc'his D; Hsieh C L; Tommerup N; Bugge M; Hulten M; Qu X; Russo J J; Viegas-Péquignot E
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
Nature 1999;402(6758):187-91.
1999: Echwald S M; Sørensen T I; Andersen T; Hansen C; Tommerup N; Pedersen O
Sequence variants in the human cocaine and amphetamine-regulated transcript (CART) gene in subjects with early onset obesity.
Obesity research 1999;7(6):532-6.
1999: Bondurand N; Kuhlbrodt K; Pingault V; Enderich J; Sajus M; Tommerup N; Warburg M; Hennekam R C; Read A P; Wegner M; Goossens M
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
Human molecular genetics 1999;8(9):1785-9.
1999: Johnstone R W; Tommerup N; Hansen C; Vissing H; Shi Y
Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1.
Immunogenetics 1999;49(10):900-5.
1999: Madsen P; Anant S; Rasmussen H H; Gromov P; Vorum H; Dumanski J P; Tommerup N; Collins J E; Wright C L; Dunham I; MacGinnitie A J; Davidson N O; Celis J E
Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1.
The Journal of investigative dermatology 1999;113(2):162-9.
1999: Jacobsen J; Nielsen E B; Brøndum-Nielsen K; Christensen M E; Olin H B; Tommerup N; Rassing M R
Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability.
European journal of oral sciences 1999;107(2):138-46.
1999: Wirth J; Nothwang H G; van der Maarel S; Menzel C; Borck G; Lopez-Pajares I; Brøndum-Nielsen K; Tommerup N; Bugge M; Ropers H H; Haaf T
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Journal of medical genetics 1999;36(4):271-8.
1999: Silahtaroglu A; Hol F A; Jensen P K; Erdel M; Duba H C; Geurds M P; Knoers N V; Mariman E C; Tümer Z; Utermann G; Wirth J; Bugge M; Tommerup N
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
European journal of human genetics : EJHG 1999;7(1):68-76.
1998: Wandall A; Tranebjaerg L; Tommerup N
A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores.
Chromosoma 1998;107(6-7):359-65.
1998: Johnstone R W; Tommerup N; Hansen C; Vissing H; Shi Y
Mapping of the human PAWR (par-4) gene to chromosome 12q21.
Genomics 1998;53(2):241-3.
1998: Rendtorff N D; Hansen C; Silahtaroglu A; Henriksen K F; Tommerup N
Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1.
Genomics 1998;53(1):114-6.
1998: Silahtaroglu A N; Hacihanefioglu S; Güven G S; Cenani A; Wirth J; Tommerup N; Tümer Z
Not para-, not peri-, but centric inversion of chromosome 12.
Journal of medical genetics 1998;35(8):682-4.
1998: Hasle H; Olsen J H; Hansen J; Friedrich U; Tommerup N
Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities.
Cancer genetics and cytogenetics 1998;105(1):39-42.
1998: Gromov P S; Celis J E; Hansen C; Tommerup N; Gromova I; Madsen P
Human rab11a: transcription, chromosome mapping and effect on the expression levels of host GTP-binding proteins.
FEBS letters 1998;429(3):359-64.
1998: Kozyraki R; Kristiansen M; Silahtaroglu A; Hansen C; Jacobsen C; Tommerup N; Verroust P J; Moestrup S K
The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.
Blood 1998;91(10):3593-600.
1998: Johnstone R W; Wang J; Tommerup N; Vissing H; Roberts T; Shi Y
Ciao 1 is a novel WD40 protein that interacts with the tumor suppressor protein WT1.
The Journal of biological chemistry 1998;273(18):10880-7.
1998: Jensen D E; Proctor M; Marquis S T; Gardner H P; Ha S I; Chodosh L A; Ishov A M; Tommerup N; Vissing H; Sekido Y; Minna J; Borodovsky A; Schultz D C; Wilkinson K D; Maul G G; Barlev N; Berger S L; Prendergast G C; Rauscher F J
BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression.
Oncogene 1998;16(9):1097-112.
1998: Okamoto K; Morison I M; Reeve A E; Tommerup N; Wiedemann H R; Friedrich U
Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?
Journal of medical genetics 1998;35(1):86.
1997: Schulze A; Hansen C; Baekgaard P; Blichfeldt S; Petersen M B; Tommerup N; Brøndum-Nielsen K
Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect.
Acta paediatrica (Oslo, Norway : 1992) 1997;86(8):906-10.
1997: Helin K; Holm K; Niebuhr A; Eiberg H; Tommerup N; Hougaard S; Poulsen H S; Spang-Thomsen M; Norgaard P
Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(13):6933-8.
1997: Riise R; Andréasson S; Borgaström M K; Wright A F; Tommerup N; Rosenberg T; Tornqvist K
Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.
The British journal of ophthalmology 1997;81(5):378-85.
1997: Senger G; Chudoba I; Friedrich U; Tommerup N; Claussen U; Brøndum-Nielsen K
Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection.
Prenatal diagnosis 1997;17(4):369-74.
1997: Bruford E A; Riise R; Teague P W; Porter K; Thomson K L; Moore A T; Jay M; Warburg M; Schinzel A; Tommerup N; Tornqvist K; Rosenberg T; Patton M; Mansfield D C; Wright A F
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
Genomics 1997;41(1):93-9.
1997: Hasle H; Nir M; Tommerup N
Prolonged extreme thrombocytosis associated with neurofibromatosis type 1.
The Journal of pediatrics 1997;130(2):317-9.
1997: Petersen C M; Nielsen M S; Nykjaer A; Jacobsen L; Tommerup N; Rasmussen H H; Roigaard H; Gliemann J; Madsen P; Moestrup S K
Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography.
The Journal of biological chemistry 1997;272(6):3599-605.
1997: Brøndum-Nielsen K; Beck B; Gyftodimou J; Hørlyk H; Liljenberg U; Petersen M B; Pedersen W; Petersen M B; Sand A; Skovby F; Stafanger G; Zetterqvist P; Tommerup N
Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
Human genetics 1997;99(1):56-61.
1997: Nothwang H G; Wirth J; Brandl B; Haaf T; Nielsen K B; Tommerup N; Ropers H H
Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.
Cytogenetics and cell genetics 1997;79(3-4):293-7.
1997: Wagner T; Tommerup N; Wirth J; Leffers H; Zimmer J; Back E; Weissenbach J; Scherer G
A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3.
Cytogenetics and cell genetics 1997;76(3-4):172-5.
1996: Jacobsen L; Madsen P; Moestrup S K; Lund A H; Tommerup N; Nykjaer A; Sottrup-Jensen L; Gliemann J; Petersen C M
Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein.
The Journal of biological chemistry 1996;271(49):31379-83.
1996: Lund A; Knudsen S M; Vissing H; Clark B; Tommerup N
Assignment of human elongation factor 1alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3.
Genomics 1996;36(2):359-61.
1996: Hasle H; Olsen J H; Nielsen J; Hansen J; Friedrich U; Tommerup N
Occurrence of cancer in women with Turner syndrome.
British journal of cancer 1996;73(9):1156-9.
1996: Schulze A; Hansen C; Skakkebaek N E; Brøndum-Nielsen K; Ledbeter D H; Tommerup N
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
Nature genetics 1996;12(4):452-4.
1996: Tommerup N; Leffers H
Assignment of the human genes encoding 14,3-3 Eta (YWHAH) to 22q12, 14-3-3 zeta (YWHAZ) to 2p25.1-p25.2, and 14-3-3 beta (YWHAB) to 20q13.1 by in situ hybridization.
Genomics 1996;33(1):149-50.
1996: Junker S; Brøndum-Nielsen K; Newell J W; Matthias P; Tommerup N
Assignment of the human gene for Oct-binding factor-1 (OBF1), a B-cell-specific coactivator of octamer-binding transcription factors 1 and 2, to 11q23.1 by somatic cell hybridization and in situ hybridization.
Genomics 1996;33(1):143-5.
1996: Tommerup N; Leffers H
Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.
Genomics 1996;32(2):297-8.
1996: Hofstra R M; Cheng N C; Hansen C; Stulp R P; Stelwagen T; Clausen N; Tommerup N; Caron H; Westerveld A; Versteeg R; Buys C H
No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma.
Human genetics 1996;97(3):362-4.
1996: Bugge M; Blennow E; Friedrich U; Petersen M B; Pedeutour F; Tsezou A; Orum A; Hermann S; Lyngbye T; Sarri C; Avramopoulos D; Kitsiou S; Lambert J C; Guzda M; Tommerup N; Brøndum-Nielsen K
Tetrasomy 18p de novo: parental origin and different mechanisms of formation.
European journal of human genetics : EJHG 1996;4(3):160-7.
1996: Børglum A D; Flint T; Tommerup N; Fleckner J; Justesen J; Kruse T A
Assignment of the human tryptophanyl-tRNA synthetase gene (WARS) to chromosome 14q32.2 --> q32.32.
Cytogenetics and cell genetics 1996;73(1-2):99-103.
1995: Honoré B; Rasmussen H H; Vorum H; Dejgaard K; Liu X; Gromov P; Madsen P; Gesser B; Tommerup N; Celis J E
Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.
The Journal of biological chemistry 1995;270(48):28780-9.
1995: Lothe R A; Peltomäki P; Tommerup N; Fosså S D; Stenwig A E; Børresen A L; Nesland J M
Molecular genetic changes in human male germ cell tumors.
Laboratory investigation; a journal of technical methods and pathology 1995;73(5):606-14.
1995: Vissing H; Meyer W K; Aagaard L; Tommerup N; Thiesen H J
Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins.
FEBS letters 1995;369(2-3):153-7.
1995: Petrij F; Giles R H; Dauwerse H G; Saris J J; Hennekam R C; Masuno M; Tommerup N; van Ommen G J; Goodman R H; Peters D J
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
Nature 1995;376(6538):348-51.
1995: Brøndum-Nielsen K; Tommerup N
[Identification of cancer genes. The need for diagnosis and counseling of families with cancer]
Ugeskrift for laeger 1995;157(24):3462-3.
1995: Tommerup N; Vissing H
Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.
Genomics 1995;27(2):259-64.
1995: Hertz J M; Tommerup N; Sørensen F B; Henriques U V; Nielsen A; Therkelsen A J
Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.
Clinical genetics 1995;47(5):231-5.
1995: Orstavik R E; Tommerup N; Eiklid K; Orstavik K H
Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome.
American journal of medical genetics 1995;56(2):210-4.
1994: Vissing H; Aagaard L; Tommerup N; Boel E
Localization of the human gene for advanced glycosylation end product-specific receptor (AGER) to chromosome 6p21.3.
Genomics 1994;24(3):606-8.
1994: Sutcliffe J S; Nakao M; Christian S; Orstavik K H; Tommerup N; Ledbetter D H; Beaudet A L
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics 1994;8(1):52-8.
1994: Schwartz C E; Dean J; Howard-Peebles P N; Bugge M; Mikkelsen M; Tommerup N; Hull C; Hagerman R; Holden J J; Stevenson R E
Obstetrical and gynecological complications in fragile X carriers: a multicenter study.
American journal of medical genetics 1994;51(4):400-2.
1993: Tommerup N; Brandt C A; Pedersen S; Bolund L; Kamper J
Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).
Journal of medical genetics 1993;30(11):958-61.
1993: Tommerup N; Aagaard L; Lund C L; Boel E; Baxendale S; Bates G P; Lehrach H; Vissing H
A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.
Human molecular genetics 1993;2(10):1571-5.
1993: Tommerup N; Mortensen E; Nielsen M H; Wegner R D; Schindler D; Mikkelsen M
Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.
Human genetics 1993;92(4):339-46.
1993: Tommerup N
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
Journal of medical genetics 1993;30(9):713-27.
1993: Tommerup N; Schempp W; Meinecke P; Pedersen S; Bolund L; Brandt C; Goodpasture C; Guldberg P; Held K R; Reinwein H
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.
Nature genetics 1993;4(2):170-4.
1993: Tommerup N; Tümer Z; Tønnesen T; Horn N
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: Fannemel M; Riise R; Lofterød B; Tommerup N
High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome.
Clinical genetics 1993;43(2):111-2.
1993: Breuning M H; Dauwerse H G; Fugazza G; Saris J J; Spruit L; Wijnen H; Tommerup N; van der Hagen C B; Imaizumi K; Kuroki Y; van den Boogaard M J; de Pater J M; Mariman E C; Hamel B C; Himmelbauer H; Frischauf A M; Stallings R; Beverstock G C; van Ommen G J; Hennekam R C
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
American journal of human genetics 1993;52(2):249-54.
1993: Chelly J; Tümer Z; Tønnesen T; Petterson A; Ishikawa-Brush Y; Tommerup N; Horn N; Monaco A P
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
Nature genetics 1993;3(1):14-9.
1993: Silahtaroglu A N; Tümer Z; Kristensen T; Sottrup-Jensen L; Tommerup N
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: Tommerup N; Lothe R
Constitutional ring chromosomes and tumour suppressor genes.
Journal of medical genetics 1992;29(12):879-82.
1992: Tommerup N
A holder for critical point drying of large numbers of EM-grids.
Microscopy research and technique 1992;23(4):353-4.
1992: Orstavik K H; Tangsrud S E; Kiil R; Hansteen I L; Steen-Johnsen J; Cassidy S B; Martony A; Anvret M; Tommerup N; Bröndum-Nielsen K
Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.
American journal of medical genetics 1992;44(4):534-8.
1992: Tommerup N; Warburg M; Gieselmann V; Hansen B R; Koch J; Petersen G B
Ring chromosome 22 and neurofibromatosis.
Clinical genetics 1992;42(4):171-7.
1992: Tümer Z; Chelly J; Tommerup N; Ishikawa-Brush Y; Tønnesen T; Monaco A P; Horn N
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: Tommerup N; van der Hagen C B; Heiberg A
Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).
American journal of medical genetics 1992;44(2):237-41.
1992: Tümer Z; Tommerup N; Tønnesen T; Kreuder J; Craig I W; Horn N
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.
1991: Rousseau F; Heitz D; Biancalana V; Blumenfeld S; Kretz C; Boué J; Tommerup N; Van Der Hagen C; DeLozier-Blanchet C; Croquette M F
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
The New England journal of medicine 1991;325(24):1673-81.
1991: Lüdecke H J; Johnson C; Wagner M J; Wells D E; Turleau C; Tommerup N; Latos-Bielenska A; Sandig K R; Meinecke P; Zabel B
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.
American journal of human genetics 1991;49(6):1197-206.
1991: Vortkamp A; Thias U; Gessler M; Rosenkranz W; Kroisel P M; Tommerup N; Krüger G; Götz J; Pelz L; Grzeschik K H
A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.
Genomics 1991;11(3):737-43.
1991: Gemmill R M; Varella-Garcia M; Smith D I; Erickson P; Golembieski W; Miller Y; Coyle-Morris J; Tommerup N; Drabkin H A
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome.
Genomics 1991;11(1):93-102.
1991: Tommerup N; Søndergaard F; Hanauer A; Oberle I; Bang J; Barbi B; Bech B; Davies K; Froster-Iskenius U; Gustavson K H
Early prenatal diagnosis of the fragile site at Xq27.3 associated with Martin-Bell syndrome.
Prenatal diagnosis 1991;11(8):609-19.
1991: Bell M V; Hirst M C; Nakahori Y; MacKinnon R N; Roche A; Flint T J; Jacobs P A; Tommerup N; Tranebjaerg L; Froster-Iskenius U
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.
Cell 1991;64(4):861-6.
1991: Carlsen N L; Mortensen B T; Andersson P K; Larsen J K; Nielsen O H; Tommerup N
Chromosome abnormalities, cellular DNA content, oncogene amplification and growth pattern in agar culture of human neuroblastomas.
Anticancer research 1991;11(1):353-8.
1991: Tommerup N
A familial X;autosome translocation associated with Becker type muscular dystrophy?
Journal of medical genetics 1991;28(1):65.
1991: Sørensen P D; Lomholt B; Frederiksen S; Tommerup N
Fine mapping of human 5S rRNA genes to chromosome 1q42.11----q42.13.
Cytogenetics and cell genetics 1991;57(1):26-9.
1990: Warburg M; Tommerup N; Vestermark S; Parving A; Weismann K; Russell B; Thomsen H K
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.
Ophthalmic paediatrics and genetics 1990;11(3):201-7.
1990: Andersen L B; Tommerup N; Koch J
Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis.
Cytogenetics and cell genetics 1990;53(4):206-10.
1989: Clausen N; Andersson P; Tommerup N
Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome.
Acta paediatrica Scandinavica 1989;78(5):736-41.
1989: Tommerup N
[Retinoblastoma: model for heredity and cancer]
Ugeskrift for laeger 1989;151(13):857-8.
1989: Tommerup N
Induction of the fragile X on BrdU-substituted chromosomes with direct visualization of sister chromatid exchanges on banded chromosomes.
Human genetics 1989;81(4):377-81.
1989: Arheden K; Tantravahi U; Tommerup N; Tranebjaerg L; Mitelman F
Localization in man of fifteen DNA sequences within the chromosome segment 13q12-q22.
Hereditas 1989;110(3):253-65.
1989: Ostergaard G Z; Tommerup N
The 8p-syndrome.
Annales de génétique 1989;32(2):87-91.
1989: Mikkelsen M; Poulsen H; Tommerup N
Genetic risk factors in human trisomy 21.
Progress in clinical and biological research 1989;311():183-97.
1988: Matsuba I; Lernmark A; Madsen O; Michelsen B; Nielsen J H; Scholler J; Vissing H; Welinder B; Tommerup N; Mikkelsen M
Gene probes to detect cross-culture contamination in hormone producing cell lines.
In vitro cellular & developmental biology : journal of the Tissue Culture Association 1988;24(11):1071-6.
1988: Tommerup N; Laing S; Christensen I J; Turner G
Screening for the fragile X: how many cells should we analyse?
American journal of medical genetics 1988;30(1-2):417-22.
1988: Tommerup N
Induction of the fra(X) in amniotic fluid cells by excess thymidine.
American journal of medical genetics 1988;30(1-2):451-3.
1988: Tranebjaerg L; Nielsen K B; Tommerup N; Warburg M; Mikkelsen M
Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.
American journal of medical genetics 1988;29(4):739-53.
1988: Arheden K; Tommerup N; Mandahl N; Heim S; Winther J; Jensen O A; Prause J U; Mitelman F
Amplification of the human putative oncogene INT1 in primary retinoblastoma tumors.
Cytogenetics and cell genetics 1988;48(3):174-7.
1987: Schindler D; Seyschab H; Poot M; Hoehn H; Schinzel A; Fryns J P; Tommerup N; Rabinovitch P S
Screening test for ataxia telangiectasia.
Lancet 1987;2(8572):1398-9.
1987: Winther J; Jensen O A; Prause J U; Tommerup N
Characterization of an intraocular retinoblastoma-like tumour.
Acta ophthalmologica 1987;65(4):491-502.
1987: Vejerslev L O; Larsen J K; Christensen I J; Tommerup N
DNA-aneuploidy in 46,XX hydatidiform moles.
Cancer genetics and cytogenetics 1987;27(2):225-8.
1987: Petersen M B; Tranebjaerg L; Tommerup N; Nygaard P; Edwards H
New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.
Journal of medical genetics 1987;24(2):93-6.
1987: Tommerup N
Triradial configurations indicate that expression of the fragile site at Xq27 is non-lethal.
Annales de génétique 1987;30(4):231-2.
1986: Nielsen K B; Tommerup N; Jespersen B; Nygaard P; Kleif L
Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.
Journal of medical genetics 1986;23(5):446-51.
1986: Vejerslev L O; Hallberg A; Tommerup N
Hydatidiform mole: a chromosomal search for a recessive mutation.
Human reproduction (Oxford, England) 1986;1(5):337-40.
1986: Tommerup N; Tønnesen T; Gustavson K H
Paternal non-disjunction in a 46,XY/47,XXY individual with a fragile 17p12 in the mother.
Clinical genetics 1986;30(1):76-9.
1986: Vejerslev L O; Tommerup N; Hallberg A
Hydatidiform moles: methods for culture and cytogenetic analyses.
Cancer genetics and cytogenetics 1986;22(1):19-27.
1986: Tommerup N; Holmgren G; Steinbach P
Fragile X: carrier detection in pregnancy.
American journal of medical genetics 1986;23(1-2):527-30.
1986: Tommerup N; Aula P; Gustavii B; Heiberg A; Holmgren G; von Koskull H; Leisti J; Mikkelsen M; Mitelman F; Nielsen K B
Second trimester prenatal diagnosis of the fragile X.
American journal of medical genetics 1986;23(1-2):313-24.
1985: Nielsen K B; Bülow S; Tommerup N
Chromosomal studies in familial polyposis coli.
Cancer genetics and cytogenetics 1985;17(4):355-7.
1985: Brünner N; Bastert G B; Poulsen H S; Spang-Thomsen M; Engelholm S A; Vindeløv L; Nielsen A; Tommerup N; Elling F
Characterization of the T61 human breast carcinoma established in nude mice.
European journal of cancer & clinical oncology 1985;21(7):833-43.
1985: Engelholm S A; Vindeløv L L; Spang-Thomsen M; Brünner N; Tommerup N; Nielsen M H; Hansen H H
Genetic instability of cell lines derived from a single human small cell carcinoma of the lung.
European journal of cancer & clinical oncology 1985;21(7):815-24.
1985: Søndergaard F; Kristensen M; Tommerup N
High resolution chromosomes from first trimester trophoblast cultures.
Prenatal diagnosis 1985;5(4):291-4.
1985: Tommerup N; Vejerslev L O
Identification of triploidy by DA/DAPI staining of trophoblastic interphase nuclei.
Placenta 1985;6(4):363-7.
1985: Tommerup N; Nielsen J; Mikkelsen M
A folate sensitive heritable fragile site at 19p13.
Clinical genetics 1985;27(5):510-4.
1985: Tommerup N; Søndergaard F; Tønnesen T; Kristensen M; Arveiler B; Schinzel A
First trimester prenatal diagnosis of a male fetus with fragile X.
Lancet 1985;1(8433):870.
1985: Tommerup N
[Research on prophase and prometaphase chromosomes]
Ugeskrift for laeger 1985;147(5):391-5.
1985: Davies K E; Mattei M G; Mattei J F; Veenema H; McGlade S; Harper K; Tommerup N; Nielsen K B; Mikkelsen M; Beighton P
Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).
Human genetics 1985;70(3):249-55.
1984: Annerén G; Wahlström J; Tommerup N
Marker chromosomes in parents to children with Down's syndrome.
Clinical genetics 1984;25(2):140-7.
1984: Tommerup N
Idoxuridine induction of micronuclei containing the long or short arms of human chromosome 9.
Cytogenetics and cell genetics 1984;38(2):92-8.
1984: Graem N; Dabelsteen E; Tommerup N
Blood group substances, T6 antigen and heterochromatin pattern as species markers in the nude mouse/human skin model.
Experimental cell biology 1984;52(4):251-9.
1984: Nielsen K B; Tommerup N
Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28. Results of folic acid treatment on fra(X) expression.
Human genetics 1984;66(2-3):225-9.
1983: Tommerup N; Nielsen F
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome.
American journal of medical genetics 1983;16(3):313-21.
1983: Nielsen L B; Nielsen K B; Tommerup N
Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium.
Prenatal diagnosis 1983;3(4):367-9.
1983: Brøndum Nielsen K; Tommerup N; Friis B; Hjelt K; Hippe E
Folic acid metabolism in a patient with fragile X.
Clinical genetics 1983;24(3):153-5.
1983: Nielsen K B; Tommerup N; Poulsen H; Jacobsen P; Beck B; Mikkelsen M
Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.
Human genetics 1983;64(3):240-5.
1982: Tommerup N
Precision-bored microcapillaries for microinjection of nano-litre quantities without precalibration.
Experimental cell research 1982;140(2):476-9.
1982: Nielsen K B; Tommerup N; Poulsen H; Mikkelsen M
Apparent homozygosity for the fragile site at Xq28 in a normal female.
Human genetics 1982;61(1):60-2.
1982: Nielsen K B; Tommerup N; Dyggve H V; Schou C
Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28).
Human genetics 1982;61(2):113-7.
1982: Tommerup N
Specific staining of 9h in human somatic interphase cells by D 287/170.
Human genetics 1982;62(4):301-4.
1981: Nielsen K B; Tommerup N
Macroorchidism, mental retardation, and the fragile X.
The New England journal of medicine 1981;305(22):1348.
1981: Tommerup N; Poulsen H; Brøndum-Nielsen K
5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.
Journal of medical genetics 1981;18(5):374-6.
1981: Nielsen K B; Lindholt J; Tommerup N; Poulsen H; Mikkelsen M
[Mental retardation, macroorchidism and hereditary X-chromosome abnormality, fra(X) (q28). A new syndrome]
Ugeskrift for laeger 1981;143(28):1747-51.
1981: Gustavson K H; Holmgren G; Blomquist H K; Mikkelsen M; Nordenson I; Poulsen H; Tommerup N
Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.
Clinical genetics 1981;19(2):101-10.
1981: Nielsen K B; Tommerup N; Poulsen H; Mikkelsen M
X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.
Human genetics 1981;59(1):23-5.
1981: Tommerup N; Nielssen K B; Mikkelsen M
Marker X chromosome induction in fibroblasts by FUdR.
American journal of medical genetics 1981;9(3):263-4.

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