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Niels Tommerup

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M Sajid Hussain; Niels Tommerup; S M Baig; K W Kjaer; A A Noegel; I Anjum; Hans Eiberg; M Farooq; E Janzen; S Marriam Bakhtiar; P Nürnberg; M Reza Toliat; Lars Hansen
Genetic heterogeneity in Pakistani microcephaly families.
Lars Hansen; Taroh Kinoshita; Yusuke Maeda; Yuan Mang; Safia Muhammad; Yoshiko Murakami; Markus M Nöthen; André Reis; Stefanie Schaffer; Hasan Tawamie; Niels Tommerup; Shoaib ur Rehman; Michael Aigner; Shahid Mahmood Baig; Mads Bak; Eric P Bennett; Rebecca Buchert; Rami Abou Jamra
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Rikke Steensbjerre Møller; Hiltrud Muhle; Ina-Maria Rückert; Thomas Sander; Stefan Schreiber; Claudia Schurmann; Ulrich Stephani; Niels Tommerup; Holger Trucks; Yvonne G Weber; H-Erich Wichmann; Peter Wolf; Dieter Dennig; Jan P Ernst; Andre Franke; Hans J Grabe; Ingo Helbig; Helle Hjalgrim; Monika Kautza; Laura L Klitten; Wolfram S Kunz; Holger Lerche; Heather C Mefford
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.

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2013: M Sajid Hussain; Niels Tommerup; S M Baig; K W Kjaer; A A Noegel; I Anjum; Hans Eiberg; M Farooq; E Janzen; S Marriam Bakhtiar; P Nürnberg; M Reza Toliat; Lars Hansen
Genetic heterogeneity in Pakistani microcephaly families.
Clinical genetics 2013;83(5):446-51.
2013: Lars Hansen; Taroh Kinoshita; Yusuke Maeda; Yuan Mang; Safia Muhammad; Yoshiko Murakami; Markus M Nöthen; André Reis; Stefanie Schaffer; Hasan Tawamie; Niels Tommerup; Shoaib ur Rehman; Michael Aigner; Shahid Mahmood Baig; Mads Bak; Eric P Bennett; Rebecca Buchert; Rami Abou Jamra
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
American journal of human genetics 2013;92(4):575-83.
2013: Rikke Steensbjerre Møller; Hiltrud Muhle; Ina-Maria Rückert; Thomas Sander; Stefan Schreiber; Claudia Schurmann; Ulrich Stephani; Niels Tommerup; Holger Trucks; Yvonne G Weber; H-Erich Wichmann; Peter Wolf; Dieter Dennig; Jan P Ernst; Andre Franke; Hans J Grabe; Ingo Helbig; Helle Hjalgrim; Monika Kautza; Laura L Klitten; Wolfram S Kunz; Holger Lerche; Heather C Mefford
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Epilepsia 2013;54(2):256-64.
2013: Martin H Berryer; Lionel Carmant; Miriam H Beauchamp; Céline Belhumeur; Sylvia Dobrzeniecka; Christine M Eng; Fadi F Hamdan; Helle Hjalgrim; Ladonna Immken; Laura L Klitten; Jean-Claude Lacaille; Jacek Majewski; Jacques L Michaud; Rikke Steensbjerre Møller; Mathilde Neugnot-Cerioli; Zhiyv Niu; Sylvain Palardy; Gayle Simpson Patel; Lysanne Patry; Daniel Rochefort; Guy A Rouleau; Klaus Scheffzek; Jeremy Schwartzentruber; Mark A Tarnopolsky; Niels Tommerup; Yaping Yang; Graziella Di Cristo
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Human mutation 2013;34(2):385-94.
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: Christina Halgren; Mikkel Wanting Myatt; Claire Marie Anderson; Iben Bache; Mads Bak; Karen Brøndum-Nielsen; Niels Tommerup
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
European journal of human genetics : EJHG 2012;20(12):1315-9.
2012: C Halgren; C Hansen; K F Henriksen; H Hjalgrim; B Isidor; Maria Kirchhoff; S Kjaergaard; Cédric Le Caignec; Francesca Mari; M Mucciolo; M Nielsen; Alessandra Renieri; Claudia Ruivenkamp; Niels Tommerup; R Zannolli; B-M Anderlid; C M Anderson; J Andrieux; Mads Bak; Emilia K Bijlsma; Nicolette S den Hollander; A Dieux; Z El-Schich; Iben Bache
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Clinical genetics 2012;82(3):248-55.
2012: Kasper Lage; Blake C Ballif; Søren Brunak; Mark J Daly; Patricia K Donahoe; Joshua M Gorham; Steven C Greenway; Sonia M Mesquita; William T Pu; Amy E Roberts; Jill A Rosenfeld; Ayellet V Segrè; Christine E Seidman; Jonathan G Seidman; Lisa G Shaffer; Leslie B Smoot; Niels Tommerup; Hiroko Wakimoto; Alexandre C Pereira; Lars A Larsen
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(35):14035-40.
2012: Linda P Jakobsen; L L Klitten; Y Mang; Rikke Steensbjerre Møller; P Pfeiffer; M Andersen; M Bak; Hans Eiberg; Lars Hansen; Niels Tommerup
Genetic studies in congenital anterior midline cervical cleft.
American journal of medical genetics. Part A 2012;158A(8):2021-6.
2012: Sheroy Minocherhomji; Henrik Nielsen; Nickolas Papadopoulos; Stefan Seemann; Mads Bak; Zahra El-Schich; Jan Gorodkin; Claus Hansen; Knud Josefsen; Yuan Mang; Niels Tommerup; Asli N Silahtaroglu
Sequence and expression analysis of gaps in human chromosome 20.
Nucleic acids research 2012;40(14):6660-72.
2012: Karina Meden Sørensen; Jesper Steensberg; Niels Tommerup; Thomas Werge; Nancy Nehme; Jan Schouten; Maria Soller; Paal Skytt Andersen; Mohaddeseh Behjati; Patrice Bouvagnet; Milad El-Segaier; Ab Errami; Eva Fernlund; Vibeke Hjortdal; Maria Kirchoff; Lars Larsen
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.
American journal of medical genetics. Part A 2012;158A(4):720-5.
2012: Linh Duong; Helle Hjalgrim; Andrés Ingason; Klaus D Jakobsen; Laura L Klitten; Rikke Steensbjerre Møller; Celina Skjødt; Michael Didriksen; Thomas Werge; Niels Tommerup
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012;159B(3):354-8.
2012: H G Karstensen; Niels Tommerup
Isolated and syndromic forms of congenital anosmia.
Clinical genetics 2012;81(3):210-5.
2012: Pasi J Eskola; Kirsti Husgafvel-Pursiainen; Danny Chan; Kenneth M C Cheung; Per Kjaer; Susanna Lemmelä; Allan Lind-Thomsen; Minna Männikkö; Dino Samartzis; Svetlana Solovieva; Niels Tommerup; Jaro Karppinen
Genetic association studies in lumbar disc degeneration: a systematic review.
PloS one 2012;7(11):e49995.
2012: Mette Sloth Mogensen; Helle Friis Proschowsky; Karsten Scheibye-Alsing; Niels Tommerup; Mads Bak; Vibeke Frøkjær Jensen; Haja N Kadarmideen; Peter Karlskov-Mortensen; Merete Fredholm
Validation of genome-wide intervertebral disk calcification associations in dachshund and further investigation of the chromosome 12 susceptibility locus.
Frontiers in genetics 2012;3():225.
2012: Agnieszka Podolska; Kerstin Skovgaard; Niels Tommerup; Jan Gorodkin; Peter M H Heegaard; Christian Anthon; Mads Bak; Susanna Cirera; Merete Fredholm
Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae.
BMC genomics 2012;13():459.
2012: Nikolaj Dietrich; Shuchi Agrawal-Singh; Mads Bak; Eskild Landt; Mads Lerdrup; Juri Rappsilber; Erik Södersten; Niels Tommerup; Klaus Hansen
REST-mediated recruitment of polycomb repressor complexes in mammalian cells.
PLoS genetics 2012;8(3):e1002494.
2011: Laura L Klitten; Rikke Steensbjerre Møller; Marina Nikanorova; Asli Silahtaroglu; Helle Hjalgrim; Niels Tommerup
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Epilepsia 2011;52(12):e190-3.
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: Shoaib ur Rehman; Sijad ur Rehman; Naveed Altaf Malik; Niels Tommerup; Ilyas Ahmad; Shahid Mahmood Baig; Hans Eiberg; Lars Hansen
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
Neurogenetics 2011;12(3):247-51.
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: A Wesolowska; K Audouze; M Bak; L Borst; Søren Brunak; M D Dalgaard; Laurent Gautier; L R Helt; H Leffers; J Nersting; B F Nielsen; K Schmiegelow; thomas sicheritz-ponten; Niels Tommerup; N Weinhold; Ramneek Gupta
Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia.
Leukemia 2011;25(6):1001-6.
2011: Sara Bech; Anne Nørremølle; Kristian Winge; Lis Hasholt; Niels Tommerup; Kirsten Svenstrup; Jørgen E Nielsen; Lena E Hjermind
The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders.
Parkinsonism & related disorders 2011;17(5):398-9.
2011: Linda P Jakobsen; Merete Bugge; Reinhard Ullmann; Charlotte K Schjerling; Rehannah Borup; Lars Hansen; Hans Eiberg; Niels Tommerup
500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.
American journal of medical genetics. Part A 2011;155A(3):652-5.
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.
2011: Laura L Klitten; Rikke Steensbjerre Møller; Kirstine Ravn; Helle Hjalgrim; Niels Tommerup
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
European journal of human genetics : EJHG 2011;19(1):1-2.
2011: Roberta Buonincontri; Iben Bache; Asli Silahtaroglu; Carsten Elbro; Anne-Mette Veber Nielsen; Reinhard Ullmann; Ger Arkesteijn; Niels Tommerup
A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.
Behavior genetics 2011;41(1):125-33.
2010: Line T Sehested; Rikke Steensbjerre Møller; Iben Bache; Noemi B Andersen; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features.
American journal of medical genetics. Part A 2010;152A(12):3115-9.
2010: Mette Boyd; Morten Hansen; Tine G K Jensen; Anna Perearnau; Anders K Olsen; Lotte L Bram; Mads Bak; Niels Tommerup; Jørgen Olsen; Jesper T Troelsen
Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2).
The Journal of biological chemistry 2010;285(33):25115-25.
2010: Walter Reisner; Niels B Larsen; Asli Silahtaroglu; Anders Kristensen; Niels Tommerup; Jonas O Tegenfeldt; Henrik Flyvbjerg
Single-molecule denaturation mapping of DNA in nanofluidic channels.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(30):13294-9.
2010: Kasper Lage; Kjeld Møllgård; Steven Greenway; Hiroko Wakimoto; Joshua M Gorham; Christopher T Workman; Eske Bendsen; Niclas T Hansen; Olga Rigina; Francisco S Roque; Cornelia Wiese; Vincent M Christoffels; Amy E Roberts; Leslie B Smoot; William T Pu; Patricia K Donahoe; Niels Tommerup; Søren Brunak; Christine E Seidman; Jonathan G Seidman; Lars A Larsen
Dissecting spatio-temporal protein networks driving human heart development and related disorders.
Molecular systems biology 2010;6():381.
2010: Bernard Thienpont; Litu Zhang; Alex V Postma; Jeroen Breckpot; Léon-Charles Tranchevent; Peter Van Loo; Kjeld Møllgård; Niels Tommerup; Iben Bache; Zeynep Tümer; Klaartje van Engelen; Björn Menten; Geert Mortier; Darrel Waggoner; Marc Gewillig; Yves Moreau; Koen Devriendt; Lars Allan Larsen
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
American journal of human genetics 2010;86(6):839-49.
2010: Muhammad Farooq; Jesper T Troelsen; Mette Boyd; Hans Eiberg; Lars Hansen; Muhammad Sajid Hussain; Shoaib ur Rehman; Aysha Azhar; Amjad Ali; Syeda Marriam Bakhtiar; Niels Tommerup; Shahid Mahmood Baig; Klaus W Kjaer
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
European journal of human genetics : EJHG 2010;18(6):733-6.
2010: Daniela Kleine-Kohlbrecher; Jesper Christensen; Julien Vandamme; Iratxe Abarrategui; Mads Bak; Niels Tommerup; Xiaobing Shi; Or Gozani; Juri Rappsilber; Anna Elisabetta Salcini; Kristian Helin
A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.
Molecular cell 2010;38(2):165-78.
2010: Diego Pasini; Paul A C Cloos; Julian Walfridsson; Linda Olsson; John-Paul Bukowski; Jens V Johansen; Mads Bak; Niels Tommerup; Juri Rappsilber; Kristian Helin
JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells.
Nature 2010;464(7286):306-10.
2010: Kristian T Jørgensen; Klaus Rostgaard; Iben Bache; Robert J Biggar; Nete Munk Nielsen; Niels Tommerup; Morten Frisch
Autoimmune diseases in women with Turner's syndrome.
Arthritis and rheumatism 2010;62(3):658-66.
2010: Muhammad Farooq; Shahid Baig; Niels Tommerup; Klaus W Kjaer
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.
American journal of medical genetics. Part A 2010;152A(2):495-7.
2010: Indumathi Vedarethinam; Maria Dimaki; Pranjul Shah; Niels Tommerup; Zeynep Tumer; Winnie E Svendsen
Metaphase FISH on a chip: miniaturized microfluidic device for fluorescence in situ hybridization.
Sensors (Basel, Switzerland) 2010;10(11):9831-46.
2010: Iram Anjum; Hans Eiberg; Shahid Mahmood Baig; Niels Tommerup; Lars Hansen
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.
Molecular vision 2010;16():549-55.
2009: Y Hilhorst-Hofstee; Zeynep Tümer; Peter Born; Jeroen Knijnenburg; K B M Hansson; Vindhya Yatawara; Jesper Steensberg; Reinhard Ullmann; Ger Arkesteijn; Niels Tommerup; Lars Allan Larsen
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: 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.
2009: Klaus W Kjaer; Mehmet Tiner; Sultan Cingoz; Vasfi Karatosun; Niels Tommerup; Stefan Mundlos; Izge Gunal
A novel subtype of distal symphalangism affecting only the 4th finger.
American journal of medical genetics. Part A 2009;149A(7):1571-3.
2009: Laura L Klitten; Niels Tommerup; Helle Hjalgrim; Rikke Steensbjerre Møller
9q Subtelomeric deletion syndrome with diaphragmatic hernia.
American journal of medical genetics. Part A 2009;149A(5):1086-8.
2009: Farooq Muhammad; Shahid Mahmood Baig; Lars Hansen; Muhammad Sajid Hussain; Iram Anjum Inayat; Muhammad Aslam; Javed Anver Qureshi; Muhammad Toilat; Elisabeth Kirst; Muhammad Wajid; Peter Nürnberg; Hans Eiberg; Niels Tommerup; Klaus W Kjaer
Compound heterozygous ASPM mutations in Pakistani MCPH families.
American journal of medical genetics. Part A 2009;149A(5):926-30.
2009: Linda P Jakobsen; Rehannah Borup; Janni Vestergaard; Lars A Larsen; Kasper Lage; Lisa Leth Maroun; Inger Kjaer; Carsten U Niemann; Mikael Andersen; Mary A Knudsen; Kjeld Møllgård; Niels Tommerup
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: Vera Kalscheuer; Luciana Musante; Cheng Fang; Kirsten Hoffmann; Celine Fuchs; Eloisa Carta; Emma Deas; Kanamarlapudi Venkateswarlu; Corinna Menzel; Reinhard Ullmann; Niels Tommerup; Leda Dalprà; Andreas Tzschach; Angelo Selicorni; Bernhard Lüscher; Hans-Hilger Ropers; Kirsten Harvey; Robert J Harvey
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Human mutation 2009;30(1):61-8.
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: Alexandra Tészás; Rikke Steensbjerre Møller; Richard Kellermayer; Márta Czakó; Klaus W Kjaer; Reinhard Ullmann; Béla Melegh; Niels Tommerup; György Kosztolányi
A cryptic unbalanced translocation resulting in del 13q and dup 15q.
American journal of medical genetics. Part A 2008;146A(19):2570-3.
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: Filipe de Medeiros; Lars Hansen; Evete Mawlad; Hans Eiberg; Camilla Asklund; Niels Tommerup; Linda P Jakobsen
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: 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; Lizette M Schneider; Christian P Hansen; Merete Bugge; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
Epilepsia 2008;49(6):1091-4.
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: Mads Bak; Asli N Silahtaroglu; Morten Møller; Mette Christensen; Martin F Rath; Boris Skryabin; Niels Tommerup; Sakari Kauppinen
MicroRNA expression in the adult mouse central nervous system.
RNA (New York, N.Y.) 2008;14(3):432-44.
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: Elfar Torarinsson; Zizhen Yao; Eric D Wiklund; Jesper B Bramsen; Claus Hansen; Jørgen Kjems; Niels Tommerup; Walter L Ruzzo; Jan Gorodkin
Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions.
Genome research 2008;18(2):242-51.
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: Linda P Jakobsen; Reinhard Ullmann; Klaus W Kjaer; Mary A Knudsen; Niels Tommerup; Hans Eiberg
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: Heather C Mefford; Séverine Clauin; andrew sharp; Rikke Steensbjerre Møller; Reinhard Ullmann; Raj Kapur; Daniel Pinkel; Gregory Cooper; ventura Mario; Hans-Hilger Ropers; Niels Tommerup; Evan E Eichler; Christine Bellanne-Chantelot
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: 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: Merete Bugge; ANDREW COLLINS; Jens Michael Hertz; Hans Eiberg; Claes Lundsteen; Carsten A Brandt; Mads Bak; Claus Hansen; Celia D Delozier; James Lespinasse; Lisbeth Tranebjaerg; Johanne M D Hahnemann; Kirsten Rasmussen; Gert Bruun-Petersen; Laurence Duprez; Niels Tommerup; Michael B Petersen
Non-disjunction of chromosome 13.
Human molecular genetics 2007;16(16):2004-10.
2007: Steen B Laursen; Kjeld Møllgård; Christian Olesen; Roberto S Oliveri; Christian B Brøchner; Anne Grete Byskov; Anders Nyboe Andersen; Poul Erik Høyer; Niels Tommerup; Claus Yding Andersen
Regional differences in expression of specific markers for human embryonic stem cells.
Reproductive biomedicine online 2007;15(1):89-98.
2007: Iben Bache; Nete Munk Nielsen; Klaus Rostgaard; Niels Tommerup; Morten Frisch
Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements.
Arthritis and rheumatism 2007;56(7):2402-9.
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: Vera Kalscheuer; David FitzPatrick; Niels Tommerup; Merete Bugge; Erik Niebuhr; Luitgard M Neumann; Andreas Tzschach; Sarah A Shoichet; Corinna Menzel; Fikret Erdogan; Ger Arkesteijn; Hans-Hilger Ropers; Reinhard Ullmann
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Human genetics 2007;121(3-4):501-9.
2007: Christian Olesen; Pia Nyeng; Mark Kalisz; T H Jensen; M Møller; Niels Tommerup; Anne Grete Byskov
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: 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.
2007: Iben Bache; karen brondum-nielsen; Niels Tommerup
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: Kasper Lage; E Olof Karlberg; Zenia M Størling; Páll I Olason; Anders G Pedersen; Olga Rigina; Anders M Hinsby; Zeynep Tümer; Flemming Pociot; Niels Tommerup; Yves Moreau; Søren Brunak
A human phenome-interactome network of protein complexes implicated in genetic disorders.
Nature biotechnology 2007;25(3):309-16.
2007: Asli N Silahtaroglu; Dorrit Nolting; Lars Dyrskjøt; Eugene Berezikov; Morten Møller; Niels Tommerup; Sakari Kauppinen
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: Mads Bak; Lene Conley; Jakob Hedegaard; Lars Larsen; Peter Sørensen; Christian Bendixen; Niels Tommerup
Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA.
Analytical biochemistry 2006;358(1):111-9.
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: Mette Gilling; Jörn S Dullinger; Stefan Gesk; Simone Metzke-Heidemann; Reiner Siebert; Thomas Meyer; karen brondum-nielsen; Niels Tommerup; Hans-Hilger Ropers; Zeynep Tumer; Vera Kalscheuer; N Simon Thomas
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: Qingfa Wu; Niels Tommerup; San Ming Wang; Lars Hansen
A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens.
Gene 2006;371(2):167-73.
2006: Iben Bache; Mads Hjorth; Merete Bugge; Søren Holstebroe; Jørgen Hilden; Lone Schmidt; karen brondum-nielsen; Gert Bruun-Petersen; Peter Koch Jensen; Claes Lundsteen; Erik Niebuhr; Kirsten Rasmussen; Niels Tommerup
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: Linda P Jakobsen; Mary A Knudsen; James Lespinasse; Carmen García Ayuso; Carmen Ramos; Jean-Pierre Fryns; Merete Bugge; Niels Tommerup
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: 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: Iben Bache; Henrik Hasle; Niels Tommerup; Jørgen H Olsen
Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement.
Genes, chromosomes & cancer 2006;45(3):231-46.
2006: Klaus Wilbrandt Kjaer; Hans Eiberg; Lars Hansen; C B van der Hagen; K Rosendahl; Niels Tommerup; Stefan Mundlos
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: Andreas Tzschach; K Hoffmann; Maria Hoeltzenbein; Iben Bache; Niels Tommerup; Christiane Bommer; H Körner; Vera Kalscheuer; Hans-Hilger Ropers
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris.
Clinical genetics 2006;69(2):189-93.
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.
2006: Olivier Hagens; Aline Dubos; fatima abidi; Gotthold Barbi; Laura Van Zutven; Maria Hoeltzenbein; Niels Tommerup; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans van Bokhoven; Jozef Gécz; Hélène Dollfus; Hans-Hilger Ropers; Charles E Schwartz; Rita de Cassia Stocco Dos Santos; Vera Kalscheuer; André Hanauer
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
2005: Klaus Wilbrandt Kjaer; Lars Hansen; Hans Eiberg; Algirdas Utkus; Lene Theil Skovgaard; Pernille Leicht; John M Opitz; Niels Tommerup
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: Sarah A Shoichet; Stella-Amrei Kunde; Petra Viertel; Can Schell-Apacik; Hubertus von Voss; Niels Tommerup; Hans-Hilger Ropers; Vera Kalscheuer
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
Human genetics 2005;117(6):536-44.
2005: Klaus Wilbrandt Kjaer; Lars Hansen; Hans Eiberg; Knud Stenild Christensen; John M Opitz; Niels Tommerup
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: Isabella Borg; Kristine Freude; Sabine Kübart; Kirsten Hoffmann; Corinna Menzel; Franco Laccone; Helen V Firth; Malcolm A Ferguson-Smith; Niels Tommerup; Hans-Hilger Ropers; David R Sargan; Vera Kalscheuer
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: 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: Klaus Wilbrandt Kjaer; Lars Hansen; Georg C Schwabe; A P Marques-de-Faria; Hans Eiberg; Stefan Mundlos; Niels Tommerup; Thomas Rosenberg
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
Journal of medical genetics 2005;42(4):292-8.
2005: S G Lindquist; Maria Kirchhoff; Claes Lundsteen; W Pedersen; G Erichsen; K Kristensen; K Lillquist; H H Smedegaard; L Skov; Niels Tommerup; Karen Brøndum-Nielsen
Further delineation of the 22q13 deletion syndrome.
Clinical dysmorphology 2005;14(2):55-60.
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: Iben Bache; Elvire Van Assche; Sultan Cingoz; Merete Bugge; Zeynep Tümer; Mads Hjorth; Claes Lundsteen; James Lespinasse; Kirsten Winther; Anita Niebuhr; Vera Kalscheuer; Inge Liebaers; Maryse Bonduelle; Herman Tournaye; Carmen Ayuso; Gotthold Barbi; Elisabeth Blennow; Georges Bourrouillou; karen brondum-nielsen; Gert Bruun-Petersen; Marie-Francoise Croquette; Sophie Dahoun; Bruno Dallapiccola; Val Davison; Bruno Delobel; Hans-Christoph Duba; Laurence Duprez; Malcolm Ferguson-Smith; David R Fitzpatrick; Elizabeth Grace; Ingo Hansmann; Maj Hultén; Peter Ka Jensen; Philippe Jonveaux; Ulf Kristoffersson; Isidora Lopez-Pajares; Jean McGowan-Jordan; Jan Murken; Maria Orera; Tony Parkin; Eberhard Passarge; Carmen Ramos; Kirsten Rasmussen; Werner Schempp; Regine Schubert; Eberhard Schwinger; Fiorella Shabtai; Kim Smith; Raymond Stallings; Margarita Stefanova; Lisbeth Tranebjerg; Catherine Turleau; Carl Birger van der Hagen; Michel Vekemans; Nadja Kokalj Vokac; Klaus Wagner; Jan Wahlstroem; Leopoldo Zelante; Niels Tommerup
An excess of chromosome 1 breakpoints in male infertility.
European journal of human genetics : EJHG 2004;12(12):993-1000.
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: Mads Bak; Claus Hansen; Karen Friis Henriksen; Lars Hansen; Henning Pakkenberg; Hans Eiberg; Niels Tommerup
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: Klaus Wilbrandt Kjaer; Lars Hansen; Hans Eiberg; Pernille Leicht; John M Opitz; Niels Tommerup
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: 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: 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.
2004: Asli N Silahtaroglu; H Pfundheller; Alexei Koshkin; Niels Tommerup; Sakari Kauppinen
LNA-modified oligonucleotides are highly efficient as FISH probes.
Cytogenetic and genome research 2004;107(1-2):32-7.
2003: Asli N Silahtaroglu; Niels Tommerup; Henrik Vissing
FISHing with locked nucleic acids (LNA): evaluation of different LNA/DNA mixmers.
Molecular and cellular probes 2003;17(4):165-9.
2003: Christian Olesen; Joachim Silber; Hans Eiberg; Erik Ernst; Karsten Petersen; svend lindenberg; Niels Tommerup
Mutational analysis of the human FATE gene in 144 infertile men.
Human genetics 2003;113(3):195-201.
2003: Mads Bak; Claus Hansen; Niels Tommerup; Lars Larsen
The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.
Pharmacogenomics 2003;4(4):411-29.
2003: Vera Kalscheuer; Jiong Tao; Andrew Donnelly; Georgina Hollway; Eberhard Schwinger; Sabine Kübart; Corinna Menzel; Maria Hoeltzenbein; Niels Tommerup; Helen Eyre; Michael Harbord; Eric A Haan; Grant R Sutherland; Hans-Hilger Ropers; Jozef Gécz
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: 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: TS Poulsen; Asli N Silahtaroglu; CG Gisselø; Niels Tommerup; Hans E Johnsen
Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B cell malignancies using end sequenced probes.
Leukemia 2002;16(10):2148-55.
2002: Klaus Wilbrandt Kjaer; Jess Hedeboe; Merete Bugge; Claus Hansen; Karen Friis-Henriksen; Maria Baeksted Vestergaard; Niels Tommerup; John M Opitz
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
American journal of medical genetics 2002;110(2):116-21.
2002: I Borg; Michael D Squire; C Menzel; Karen Stout; D Morgan; Lionel Willatt; Patricia C M O'Brien; Malcolm A Ferguson-Smith; Hans-Hilger Ropers; Niels Tommerup; Vera Kalscheuer; David R Sargan
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: 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.
2002: TL Harboe; Niels Tommerup; N Tümer
Assignment of Zfp100 to murine chromosome 4 band D3/E1 with radiation hybrid mapping.
Cytogenetic and genome research 2002;97(3-4):276A.
2002: Lene Aarenstrup; Anne Marie Falch; Kirsten K Jakobsen; Søren Neve; Linda Ø Henriksen L; Niels Tommerup; Henrik Leffers; Karsten Kristiansen
Expression and post-translational modification of human 4-hydroxy-phenylpyruvate dioxygenase.
Cell biology international 2002;26(7):615-25.
2001: Melanie Ehrlich; K L Buchanan; F Tsien; Guanchao Jiang; B Sun; William C Uicker; Corry M R Weemaes; Dominique Smeets; Karl Sperling; B H Belohradsky; Niels Tommerup; David E Misek; Jean-Marie Rouillard; Rork Kuick; Samir M Hanash
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.
Human molecular genetics 2001;10(25):2917-31.
2001: Christian Olesen; N J Larsen; Anne Grete Byskov; TL Harboe; Niels Tommerup
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: TS Poulsen; Asli N Silahtaroglu; CG Gisselø; Eva Gaarsdal; Thomas Rasmussen; Niels Tommerup; Hans E Johnsen
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: Georgios Kitsos; H Eiberg; Effrosini Economou-Petersen; Mary K Wirtz; Patricia L Kramer; Miltiadis Aspiotis; Niels Tommerup; Michael B Petersen; Konstantinos Psilas
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: Hans Gerd Nothwang; H G Kim; J Aoki; M Geisterfer; Sabine Kübart; R D Wegner; A van Moers; L K Ashworth; Thomas Haaf; J Bell; H Arai; Niels Tommerup; Hans-Hilger Ropers; Jutta Wirth
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: Niels Tommerup
[Genetic variation and disease of human beings. The Danish Society of Medical Genetics].
Ugeskrift for laeger 2001;163(12):1711.
2001: J B Nielsen; K F Henriksen; C Hansen; Asli N Silahtaroglu; Marianne Schwartz; Niels Tommerup
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: G Borck; Jutta Wirth; T Hardt; Holger Tönnies; Karen Brøndum-Nielsen; Merete Bugge; Niels Tommerup; Hans Gerd Nothwang; Hans-Hilger Ropers; Thomas Haaf
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: Jutta Wirth; E Back; Alexander Hüttenhofer; Hans Gerd Nothwang; Christina Lich; Stephanie Gross; Corinna Menzel; A Schinzel; P Kioschis; Niels Tommerup; Hans-Hilger Ropers; Bernhard Horsthemke; Karin Buiting
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: Mads Bak; Claus Hansen; Karen Friis-Henriksen; Niels Tommerup
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.
2001: Nanna Dahl Rendtorff; Morten Frödin; T Attié-Bitach; M Vekemans; Niels Tommerup
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: Christian Olesen; C Hansen; Eske Bendsen; Anne Grete Byskov; E Schwinger; I Lopez-Pajares; Peter Koch Jensen; Ulf Kristoffersson; R Schubert; E Van Assche; J Wahlstroem; James Lespinasse; Niels Tommerup
Identification of human candidate genes for male infertility by digital differential display.
Molecular human reproduction 2001;7(1):11-20.
2000: Merete Bugge; Gert Bruun-Petersen; Karen Brøndum-Nielsen; UK Friedrich; J Hansen; G Jensen; Peter Koch Jensen; Ulf Kristoffersson; Claes Lundsteen; Erik Niebuhr; K R Rasmussen; Kirsten Rasmussen; Niels Tommerup
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: 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: Niels Tommerup
[Sequencing of the first human chromosome. The Danish Society of Medical Genetics].
Ugeskrift for laeger 2000;162(12):1710.
2000: Hans Gerd Nothwang; A Schröer; Silvère M van der Maarel; Sabine Kübart; S Schneider; L Riesselmann; Corinna Menzel; B Hinzmann; D Vogt; A Rosenthal; J Fryns; Niels Tommerup; Thomas Haaf; Hans-Hilger Ropers; Jutta Wirth
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: 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: GL Xu; Timothy H Bestor; Déborah Bourc'his; C L Hsieh; Niels Tommerup; M Bugge; M Hulten; X Qu; James J Russo; Evani Viegas-Péquignot
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
Nature 1999;402(6758):187-91.
1999: Søren M Echwald; Thorkild I A Sørensen; Teis Andersen; C Hansen; Niels Tommerup; Oluf Pedersen
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: Nadege Bondurand; Kirsten Kuhlbrodt; Veronique Pingault; Janna Enderich; M Sajus; Niels Tommerup; M Warburg; Raoul Hennekam; A P Read; Michael Wegner; Michel Goossens
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
Human molecular genetics 1999;8(9):1785-9.
1999: Ricky Johnstone; Niels Tommerup; C Hansen; Henrik Vissing; Yang Shi
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: Peder Madsen; Shrikant Anant; HH Rasmussen; Pavel Gromov; Henrik Vorum; J P Dumanski; Niels Tommerup; J E Collins; C L Wright; I Dunham; A J MacGinnitie; Nicholas O Davidson; Julio E Celis
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: J Jacobsen; E B Nielsen; K Brøndum-Nielsen; M E Christensen; H B Olin; Niels Tommerup; Margrethe Rømer Rassing
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: Jutta Wirth; Hans Gerd Nothwang; Silvère M van der Maarel; Corinna Menzel; G Borck; I Lopez-Pajares; Karen Brøndum-Nielsen; Niels Tommerup; Merete Bugge; Hans-Hilger Ropers; Thomas Haaf
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: 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.
1998: A Wandall; Lisbeth Tranebjaerg; Niels Tommerup
A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores.
Chromosoma 1998;107(6-7):359-65.
1998: Ricky Johnstone; Niels Tommerup; C Hansen; Henrik Vissing; Yang Shi
Mapping of the human PAWR (par-4) gene to chromosome 12q21.
Genomics 1998;53(2):241-3.
1998: Nanna Dahl Rendtorff; Claus Hansen; Asli N Silahtaroglu; K F Henriksen; Niels Tommerup
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: 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: Henrik Hasle; J H Olsen; J Hansen; U Friedrich; Niels Tommerup
Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities.
Cancer genetics and cytogenetics 1998;105(1):39-42.
1998: Pavel Gromov; Julio E Celis; C Hansen; Niels Tommerup; Irina Gromova; Peder Madsen
Human rab11a: transcription, chromosome mapping and effect on the expression levels of host GTP-binding proteins.
FEBS letters 1998;429(3):359-64.
1998: Renata Kozyraki; M Kristiansen; A Silahtaroglu; C Hansen; Christian Jacobsen; Niels Tommerup; Pierre J Verroust; Søren K Moestrup
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: Ricky Johnstone; J Wang; Niels Tommerup; Henrik Vissing; T Roberts; Yang Shi
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: DE Jensen; M Proctor; ST Marquis; HP Gardner; Seung I Ha; Lewis A Chodosh; Alexander M Ishov; Niels Tommerup; Henrik Vissing; Yoshitaka Sekido; J Minna; Anna Borodovsky; David C Schultz; Keith Wilkinson; Gerd G Maul; Nickolai A Barlev; Shelley L Berger; George C Prendergast; Frank J Rauscher
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: K Okamoto; Ian M Morison; Anthony E Reeve; Niels Tommerup; H R Wiedemann; U Friedrich
Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?
Journal of medical genetics 1998;35(1):86.
1997: A Schulze; C Hansen; P Baekgaard; S Blichfeldt; M B Petersen; Niels Tommerup; K Brøndum-Nielsen
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: Kristian Helin; K Holm; A Niebuhr; H Eiberg; Niels Tommerup; S Hougaard; Hans Skovgaard Poulsen; Mogens Spang-Thomsen; P Norgaard
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: Ruth Riise; S Andréasson; M K Borgaström; Alan F Wright; Niels Tommerup; Thomas Rosenberg; Kristina Tornqvist
Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.
The British journal of ophthalmology 1997;81(5):378-85.
1997: Gabriele Senger; Ilse Chudoba; UK Friedrich; Niels Tommerup; Uwe Claussen; Karen Brøndum-Nielsen
Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection.
Prenatal diagnosis 1997;17(4):369-74.
1997: E A Bruford; Ruth Riise; Peter Teague; K Porter; K L Thomson; A T Moore; M Jay; M Warburg; A Schinzel; Niels Tommerup; Kristina Tornqvist; Thomas Rosenberg; M Patton; D C Mansfield; Alan F Wright
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: Claus M Petersen; Morten S Nielsen; Anders Nykjaer; Linda Jacobsen; Niels Tommerup; HH Rasmussen; H Roigaard; Jørgen Gliemann; Peder Madsen; Søren K Moestrup
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: H Hasle; M Nir; Niels Tommerup
Prolonged extreme thrombocytosis associated with neurofibromatosis type 1.
The Journal of pediatrics 1997;130(2):317-9.
1997: Hans Gerd Nothwang; Jutta Wirth; B Brandl; Thomas Haaf; K B Nielsen; Niels Tommerup; Hans-Hilger Ropers
Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.
Cytogenetics and cell genetics 1997;79(3-4):293-7.
1997: T Wagner; Niels Tommerup; Jutta Wirth; H Leffers; J Zimmer; E Back; J Weissenbach; Gerd Scherer
A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3.
Cytogenetics and cell genetics 1997;76(3-4):172-5.
1997: Karen Brøndum-Nielsen; B Beck; Jolanda Gyftodimou; H Hørlyk; U Liljenberg; M B Petersen; W Pedersen; Michael B Petersen; A Sand; F Skovby; G Stafanger; P Zetterqvist; Niels Tommerup
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.
1996: Linda Jacobsen; Peder Madsen; Søren K Moestrup; Anders H Lund; Niels Tommerup; Anders Nykjaer; Lars Sottrup-Jensen; Jørgen Gliemann; Claus M Petersen
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: A Lund; S M Knudsen; Henrik Vissing; B Clark; Niels Tommerup
Assignment of human elongation factor 1alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3.
Genomics 1996;36(2):359-61.
1996: Henrik Hasle; J H Olsen; J Nielsen; J Hansen; U Friedrich; Niels Tommerup
Occurrence of cancer in women with Turner syndrome.
British journal of cancer 1996;73(9):1156-9.
1996: A Schulze; C Hansen; N E Skakkebaek; K Brøndum-Nielsen; D H Ledbeter; Niels Tommerup
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
Nature genetics 1996;12(4):452-4.
1996: Niels Tommerup; H Leffers
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: Steffen Junker; K Brøndum-Nielsen; J W Newell; Patrick Matthias; Niels Tommerup
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: Niels Tommerup; H Leffers
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: Robert M W Hofstra; N C Cheng; C Hansen; Rein P Stulp; T Stelwagen; N Clausen; Niels Tommerup; H Caron; Andries Westerveld; Rogier Versteeg; Charles H C M Buys
No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma.
Human genetics 1996;97(3):362-4.
1996: Merete Bugge; Elisabeth Blennow; U Friedrich; Michael B Petersen; F Pedeutour; Aspasia Tsezou; A Orum; S Hermann; T Lyngbye; Catherine Sarri; Dimitrios Avramopoulos; Sophia Kitsiou-Tzeli; J C Lambert; M Guzda; Niels Tommerup; Karen Brøndum-Nielsen
Tetrasomy 18p de novo: parental origin and different mechanisms of formation.
European journal of human genetics : EJHG 1996;4(3):160-7.
1996: Anders D Børglum; Tracey J Flint; Niels Tommerup; J Fleckner; Just Justesen; Torben A Kruse
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: Bent Honoré; HH Rasmussen; Henrik Vorum; K Dejgaard; X Liu; Pavel Gromov; Peder Madsen; Borbala Gesser; Niels Tommerup; Julio E Celis
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: Ragnhild A Lothe; Päivi Peltomäki; Niels Tommerup; Sophie D Fosså; Anna E Stenwig; A L Børresen; Jahn M Nesland
Molecular genetic changes in human male germ cell tumors.
Laboratory investigation; a journal of technical methods and pathology 1995;73(5):606-14.
1995: Henrik Vissing; W K Meyer; L Aagaard; Niels Tommerup; H J Thiesen
Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins.
FEBS letters 1995;369(2-3):153-7.
1995: Fred Petrij; Rachel H Giles; Hans Dauwerse; Jasper J Saris; Raoul Hennekam; Mitsuo Masuno; Niels Tommerup; Gert-Jan B van Ommen; Richard H Goodman; Dorien J M Peters
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
Nature 1995;376(6538):348-51.
1995: K Brøndum-Nielsen; Niels Tommerup
[Identification of cancer genes. The need for diagnosis and counseling of families with cancer].
Ugeskrift for laeger 1995;157(24):3462-3.
1995: Niels Tommerup; Henrik Vissing
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: Jens Michael Hertz; Niels Tommerup; F B Sørensen; U V Henriques; A Nielsen; A J Therkelsen
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: R E Orstavik; Niels Tommerup; Kristin Louise Eiklid; Karen Helene Orstavik
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: Henrik Vissing; L Aagaard; Niels Tommerup; E Boel
Localization of the human gene for advanced glycosylation end product-specific receptor (AGER) to chromosome 6p21.3.
Genomics 1994;24(3):606-8.
1994: James S Sutcliffe; M Nakao; Susan L Christian; K H Orstavik; Niels Tommerup; David Ledbetter; Arthur L Beaudet
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: Charles E Schwartz; J Dean; P N Howard-Peebles; M Bugge; M Mikkelsen; Niels Tommerup; C Hull; Randi J Hagerman; Jeanette J A Holden; Roger E Stevenson
Obstetrical and gynecological complications in fragile X carriers: a multicenter study.
American journal of medical genetics 1994;51(4):400-2.
1993: Niels Tommerup; C A Brandt; S Pedersen; L Bolund; J Kamper
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: Niels Tommerup; L Aagaard; C L Lund; E Boel; S Baxendale; Gillian P Bates; Hans Lehrach; Henrik Vissing
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: Niels Tommerup; E Mortensen; M H Nielsen; R D Wegner; D Schindler; M Mikkelsen
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: Niels Tommerup
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
Journal of medical genetics 1993;30(9):713-27.
1993: Niels Tommerup; W Schempp; P Meinecke; S Pedersen; L Bolund; C Brandt; C Goodpasture; P Guldberg; K R Held; H Reinwein
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: 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: M Fannemel; R Riise; B Lofterød; Niels Tommerup
High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome.
Clinical genetics 1993;43(2):111-2.
1993: Martijn H Breuning; Hans Dauwerse; G Fugazza; Jasper J Saris; Lia Spruit; H Wijnen; Niels Tommerup; C B van der Hagen; K Imaizumi; Y Kuroki; M J van den Boogaard; Joke de Pater; Edwin C M Mariman; Ben C J Hamel; H Himmelbauer; A M Frischauf; R Stallings; Geoffrey C Beverstock; Gert-Jan B van Ommen; Raoul Hennekam
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
American journal of human genetics 1993;52(2):249-54.
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: Niels Tommerup; R Lothe
Constitutional ring chromosomes and tumour suppressor genes.
Journal of medical genetics 1992;29(12):879-82.
1992: Niels Tommerup
A holder for critical point drying of large numbers of EM-grids.
Microscopy research and technique 1992;23(4):353-4.
1992: K H Orstavik; S E Tangsrud; R Kiil; Inger-Lise Hansteen; J Steen-Johnsen; S B Cassidy; A Martony; M Anvret; Niels Tommerup; K Bröndum-Nielsen
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: Niels Tommerup; M Warburg; V Gieselmann; B R Hansen; J Koch; G B Petersen
Ring chromosome 22 and neurofibromatosis.
Clinical genetics 1992;42(4):171-7.
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: Niels Tommerup; C B van der Hagen; A Heiberg
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: 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.
1991: Francois Rousseau; D Heitz; Valérie Biancalana; S Blumenfeld; Christine Kretz; J Boué; Niels Tommerup; C Van Der Hagen; C DeLozier-Blanchet; Marie-Françoise Croquette
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: Hermann-Josef Lüdecke; C Johnson; M J Wagner; Dan E Wells; C Turleau; Niels Tommerup; A Latos-Bielenska; K R Sandig; P Meinecke; Bernhard Zabel
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: A Vortkamp; U Thias; Manfred Gessler; W Rosenkranz; Peter M Kroisel; Niels Tommerup; G Krüger; J Götz; L Pelz; Karl-Heinz Grzeschik
A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.
Genomics 1991;11(3):737-43.
1991: Robert M Gemmill; M Varella-Garcia; David I Smith; Paul F Erickson; W Golembieski; York E Miller; J Coyle-Morris; Niels Tommerup; Harry A Drabkin
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome.
Genomics 1991;11(1):93-102.
1991: Niels Tommerup; F Søndergaard; A Hanauer; I Oberle; J Bang; B Barbi; B Bech; K Davies; U Froster-Iskenius; K H Gustavson
Early prenatal diagnosis of the fragile site at Xq27.3 associated with Martin-Bell syndrome.
Prenatal diagnosis 1991;11(8):609-19.
1991: M V Bell; Mark Hirst; Y Nakahori; R N MacKinnon; A Roche; T J Flint; P A Jacobs; Niels Tommerup; L Tranebjaerg; U Froster-Iskenius
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.
Cell 1991;64(4):861-6.
1991: N L Carlsen; B T Mortensen; P K Andersson; J K Larsen; O H Nielsen; Niels Tommerup
Chromosome abnormalities, cellular DNA content, oncogene amplification and growth pattern in agar culture of human neuroblastomas.
Anticancer research 1991;11(1):353-8.
1991: P D Sørensen; Bodil Lomholt; S Frederiksen; Niels Tommerup
Fine mapping of human 5S rRNA genes to chromosome 1q42.11----q42.13.
Cytogenetics and cell genetics 1991;57(1):26-9.
1991: Niels Tommerup
A familial X;autosome translocation associated with Becker type muscular dystrophy?
Journal of medical genetics 1991;28(1):65.
1990: M Warburg; Niels Tommerup; S Vestermark; A Parving; K Weismann; B Russell; H K Thomsen
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.
Ophthalmic paediatrics and genetics 1990;11(3):201-7.
1990: L B Andersen; Niels Tommerup; J Koch
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: N Clausen; P Andersson; Niels Tommerup
Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome.
Acta paediatrica Scandinavica 1989;78(5):736-41.
1989: Niels Tommerup
[Retinoblastoma: model for heredity and cancer].
Ugeskrift for laeger 1989;151(13):857-8.
1989: Niels Tommerup
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: K Arheden; U Tantravahi; Niels Tommerup; L Tranebjaerg; F Mitelman
Localization in man of fifteen DNA sequences within the chromosome segment 13q12-q22.
Hereditas 1989;110(3):253-65.
1989: G Z Ostergaard; Niels Tommerup
The 8p-syndrome.
Annales de génétique 1989;32(2):87-91.
1989: M Mikkelsen; H Poulsen; Niels Tommerup
Genetic risk factors in human trisomy 21.
Progress in clinical and biological research 1989;311():183-97.
1988: I Matsuba; Ake Lernmark; O Madsen; Birgitte K Michelsen; Jens H Nielsen; J Scholler; Henrik Vissing; B Welinder; Niels Tommerup; M Mikkelsen
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: Niels Tommerup; S Laing; I J Christensen; G Turner
Screening for the fragile X: how many cells should we analyse?
American journal of medical genetics 1988;30(1-2):417-22.
1988: Niels Tommerup
Induction of the fra(X) in amniotic fluid cells by excess thymidine.
American journal of medical genetics 1988;30(1-2):451-3.
1988: L Tranebjaerg; K B Nielsen; Niels Tommerup; M Warburg; M Mikkelsen
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: K Arheden; Niels Tommerup; Nils Mandahl; Sverre Heim; J Winther; O A Jensen; Jan Ulrik Prause; Felix Mitelman
Amplification of the human putative oncogene INT1 in primary retinoblastoma tumors.
Cytogenetics and cell genetics 1988;48(3):174-7.
1987: Detlev Schindler; H Seyschab; M Poot; Holger Hoehn; A Schinzel; J P Fryns; Niels Tommerup; Peter S Rabinovitch
Screening test for ataxia telangiectasia.
Lancet 1987;2(8572):1398-9.
1987: J Winther; O A Jensen; Jan Ulrik Prause; Niels Tommerup
Characterization of an intraocular retinoblastoma-like tumour.
Acta ophthalmologica 1987;65(4):491-502.
1987: L O Vejerslev; J K Larsen; I J Christensen; Niels Tommerup
DNA-aneuploidy in 46,XX hydatidiform moles.
Cancer genetics and cytogenetics 1987;27(2):225-8.
1987: M B Petersen; L Tranebjaerg; Niels Tommerup; P Nygaard; H Edwards
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: Niels Tommerup
Triradial configurations indicate that expression of the fragile site at Xq27 is non-lethal.
Annales de génétique 1987;30(4):231-2.
1986: K B Nielsen; Niels Tommerup; B Jespersen; P Nygaard; L Kleif
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: L O Vejerslev; A Hallberg; Niels Tommerup
Hydatidiform mole: a chromosomal search for a recessive mutation.
Human reproduction (Oxford, England) 1986;1(5):337-40.
1986: Niels Tommerup; T Tønnesen; K H Gustavson
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: L O Vejerslev; Niels Tommerup; A Hallberg
Hydatidiform moles: methods for culture and cytogenetic analyses.
Cancer genetics and cytogenetics 1986;22(1):19-27.
1986: Niels Tommerup; G Holmgren; P Steinbach
Fragile X: carrier detection in pregnancy.
American journal of medical genetics 1986;23(1-2):527-30.
1986: Niels Tommerup; P Aula; B Gustavii; A Heiberg; G Holmgren; H von Koskull; J Leisti; M Mikkelsen; F Mitelman; K B Nielsen
Second trimester prenatal diagnosis of the fragile X.
American journal of medical genetics 1986;23(1-2):313-24.
1985: K B Nielsen; S Bülow; Niels Tommerup
Chromosomal studies in familial polyposis coli.
Cancer genetics and cytogenetics 1985;17(4):355-7.
1985: N Brünner; G B Bastert; H S Poulsen; Mogens Spang-Thomsen; S A Engelholm; Lars L Vindeløv; A Nielsen; Niels Tommerup; F Elling
Characterization of the T61 human breast carcinoma established in nude mice.
European journal of cancer & clinical oncology 1985;21(7):833-43.
1985: Svend A Engelholm; Lars L Vindeløv; Mogens Spang-Thomsen; N Brünner; Niels Tommerup; M H Nielsen; H H Hansen
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: F Søndergaard; M Kristensen; Niels Tommerup
High resolution chromosomes from first trimester trophoblast cultures.
Prenatal diagnosis 1985;5(4):291-4.
1985: Niels Tommerup; L O Vejerslev
Identification of triploidy by DA/DAPI staining of trophoblastic interphase nuclei.
Placenta 1985;6(4):363-7.
1985: Niels Tommerup; J Nielsen; M Mikkelsen
A folate sensitive heritable fragile site at 19p13.
Clinical genetics 1985;27(5):510-4.
1985: Niels Tommerup; F Søndergaard; T Tønnesen; M Kristensen; B Arveiler; A Schinzel
First trimester prenatal diagnosis of a male fetus with fragile X.
Lancet 1985;1(8433):870.
1985: Niels Tommerup
[Research on prophase and prometaphase chromosomes].
Ugeskrift for laeger 1985;147(5):391-5.
1985: K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; Niels Tommerup; K B Nielsen; M Mikkelsen; P Beighton
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: G Annerén; J Wahlström; Niels Tommerup
Marker chromosomes in parents to children with Down's syndrome.
Clinical genetics 1984;25(2):140-7.
1984: Niels Tommerup
Idoxuridine induction of micronuclei containing the long or short arms of human chromosome 9.
Cytogenetics and cell genetics 1984;38(2):92-8.
1984: N Graem; E Dabelsteen; Niels Tommerup
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: K B Nielsen; Niels Tommerup
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: Niels Tommerup; F Nielsen
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: L B Nielsen; K B Nielsen; Niels Tommerup
Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium.
Prenatal diagnosis 1983;3(4):367-9.
1983: K Brøndum Nielsen; Niels Tommerup; B Friis; K Hjelt; E Hippe
Folic acid metabolism in a patient with fragile X.
Clinical genetics 1983;24(3):153-5.
1983: K B Nielsen; Niels Tommerup; H Poulsen; P Jacobsen; B Beck; M Mikkelsen
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: Niels Tommerup
Precision-bored microcapillaries for microinjection of nano-litre quantities without precalibration.
Experimental cell research 1982;140(2):476-9.
1982: K B Nielsen; Niels Tommerup; H Poulsen; M Mikkelsen
Apparent homozygosity for the fragile site at Xq28 in a normal female.
Human genetics 1982;61(1):60-2.
1982: K B Nielsen; Niels Tommerup; H V Dyggve; C Schou
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: Niels Tommerup
Specific staining of 9h in human somatic interphase cells by D 287/170.
Human genetics 1982;62(4):301-4.
1981: K B Nielsen; Niels Tommerup
Macroorchidism, mental retardation, and the fragile X.
The New England journal of medicine 1981;305(22):1348.
1981: Niels Tommerup; H Poulsen; K Brøndum-Nielsen
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: K B Nielsen; J Lindholt; Niels Tommerup; H Poulsen; M Mikkelsen
[Mental retardation, macroorchidism and hereditary X-chromosome abnormality, fra(X) (q28). A new syndrome].
Ugeskrift for laeger 1981;143(28):1747-51.
1981: K H Gustavson; G Holmgren; H K Blomquist; M Mikkelsen; I Nordenson; H Poulsen; Niels Tommerup
Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.
Clinical genetics 1981;19(2):101-10.
1981: K B Nielsen; Niels Tommerup; H Poulsen; M Mikkelsen
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: Niels Tommerup; K B Nielssen; M Mikkelsen
Marker X chromosome induction in fibroblasts by FUdR.
American journal of medical genetics 1981;9(3):263-4.