N Tommerup
Overview
Explore the profile of N Tommerup including associated specialties, affiliations and a list of published articles.
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Articles
179
Citations
4069
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0
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Recent Articles
1.
Karstensen H, Mang Y, Fark T, Hummel T, Tommerup N
Clin Genet
. 2014 Aug;
88(3):293-6.
PMID: 25156905
Isolated congenital anosmia (ICA) is a rare disorder, where otherwise healthy individuals present with an inability to smell since birth. A list of studies have described the genes involved in...
2.
Moller R, Jensen L, Maas S, Filmus J, Capurro M, Hansen C, et al.
Hum Genet
. 2013 Dec;
133(5):625-38.
PMID: 24326587
Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include...
3.
Hellung-Larsen P, Leick V, Tommerup N, Kronborg D
Eur J Protistol
. 2012 Dec;
25(3):229-33.
PMID: 23195969
Chemotaxis - that is oriented locomotion of single cells - was shown by motion analysis of Tetrahymena thermophila. An electronic registration of swimming tracks was carried out in gradients of...
4.
Jakobsen L, Pfeiffer P, Andersen M, Eiberg H, Hansen L, Mang Y, et al.
Am J Med Genet A
. 2012 Jul;
158A(8):2021-6.
PMID: 22786797
Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part...
5.
Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, et al.
Clin Genet
. 2012 Jul;
83(5):446-51.
PMID: 22775483
Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families...
6.
Karstensen H, Tommerup N
Clin Genet
. 2011 Sep;
81(3):210-5.
PMID: 21895637
Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and...
7.
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson C, et al.
Clin Genet
. 2011 Aug;
82(3):248-55.
PMID: 21801163
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Corpus callosum abnormalities are common brain malformations with a wide clinical spectrum ranging from severe...
8.
Wesolowska A, Dalgaard M, Borst L, Gautier L, Bak M, Weinhold N, et al.
Leukemia
. 2011 Mar;
25(6):1001-6.
PMID: 21415851
Genetic variants, including single-nucleotide polymorphisms (SNPs), are key determiners of interindividual differences in treatment efficacy and toxicity in childhood acute lymphoblastic leukemia (ALL). Although up to 13 chemotherapeutic agents are...
9.
Brudzewsky D, Pedersen A, Claesson M, Gad M, Kristensen N, Lage K, et al.
Scand J Immunol
. 2009 Jun;
69(5):437-46.
PMID: 19508375
Inflammatory bowel disease (IBD) is a multifactorial disorder with an unknown aetiology. The aim of this study is to employ a murine model of IBD to identify pathways and genes,...
10.
Scheibye-Alsing K, Hoffmann S, Frankel A, Jensen P, Stadler P, Mang Y, et al.
Comput Biol Chem
. 2009 Jan;
33(2):121-36.
PMID: 19152793
Despite the rapidly increasing number of sequenced and re-sequenced genomes, many issues regarding the computational assembly of large-scale sequencing data have remain unresolved. Computational assembly is crucial in large genome...