Lars Allan Larsen
Professor
- 1997
- Published
High-throughput analysis of Fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis
Larsen, Lars Allan, Grønskov, K., Nørgaard-Pedersen, B., Brøndum-Nielsen, K., Hasholt, Lis Frydenreich & Vuunst, J., 1997, In: Human Genetics. 100, p. 564-568Research output: Contribution to journal › Journal article › Research › peer-review
- 1998
- Published
Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome
Kanters, Jørgen K., Larsen, Lars Allan, Orholm, M., Agner, E., Andersen, P. S., Vuust, J. & Christiansen, M., 1 Jan 1998, In: Journal of Cardiovascular Electrophysiology. 9, 6, p. 620-624 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2001
- Published
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: Implications for acquired and congenital long QT syndrome
Larsen, Lars Allan, Andersen, P. S., Kanters, Jørgen K., Svendsen, I. H., Jacobsen, J. R., Vuust, J., Wetrell, G., Tranebjærg, Lisbeth & Christiansen, M., 2001, In: Clinical Chemistry. 47, 8, p. 1390-1395Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel: Implications for acquired and congenital long Q-T syndrome
Larsen, Lars Allan, Andersen, P. S., Kanters, Jørgen K., Svendsen, I. H., Jacobsen, J. R., Vuust, J., Wettrell, G., Tranebjærg, Lisbeth, Bathen, J. & Christiansen, M., 6 Aug 2001, In: Clinical Chemistry. 47, 8, p. 1390-1395 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2003
- Published
Capillary electrophoresis-based single stand dna conformation analysis in high-throughput mutation screening
Andersen, P. S., Jespersgaard, C., Vuust, J., Christiansen, M. & Larsen, Lars Allan, 2003, In: Human Mutation. Vol. 21, p. 455-65Research output: Contribution to journal › Journal article › Research › peer-review
- Published
High-througput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method
Andersen, P. S., Jespersgaard, C., Vuust, J., Christiansen, M. & Larsen, Lars Allan, 2003, In: Human Mutation. Vol. 21, p. 116-122Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations
Havndrup, O., Bundgaard, H., Andersen, P. S., Larsen, Lars Allan, Vuust, J., Kjeldsen, K. & Christiansen, M., 2003, In: Cardiovascular Research. Vol. 57, p. 298-301Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The Hedgehog signaling pathway - implications for drug targets in cancer and neurodegenerative disorders
Bak, M., Hansen, C., Tommerup, Niels & Larsen, Lars Allan, 2003, In: Pharmacogenomics. Vol. 4, p. 411-429Research output: Contribution to journal › Journal article › Research › peer-review
- 2004
- Published
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome
Boonen, S. E., Stahl, D., Kreiborg, Sven, Rosenberg, T., Kalscheuer, V., Larsen, Lars Allan, Tommerup, Niels, Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 132A, p. 324-328Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Does KCNE5 play a role in long QT syndrome?
Hofman-Bang, J., Jespersen, Thomas, Grunnet, Morten, Larsen, Lars Allan, Andersen, P. S., Kanters, Jørgen K., Kjeldsen, K. & Christiansen, M., 2004, In: Clinica Chimica Acta. 345, 1-2, p. 49-53 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment
Grønskov, K., Larsen, Lars Allan, Rendtorff, N. D., Parving, A., Nørgaard-Pedersen, B. & Brøndum-Nielsen, K., 2004, In: Genet Test. Vol. 8, p. 181-184Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency
Andersen, P. S., Havndrup, O., Bundgaard, H., Larsen, Lars Allan, Vuust, J., Pedersen, A. K., Kjeldsen, K. & Christiansen, M., 2004, In: European Journal of Human Genetics. Vol. 12, p. 673-677Research output: Contribution to journal › Journal article › Research › peer-review
- Published
High Throughput Mutation Screening
Andersen, P. S. & Larsen, Lars Allan, 2004, Molecular Analysis and Genome Discovery. New York: IEEE Computer Society Press, p. chap. 5Research output: Chapter in Book/Report/Conference proceeding › Report chapter › Research
- Published
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family
Henriksen, A. M., Tümer, Asuman Zeynep, Tommerup, Niels, Tranebjærg, Lisbeth & Larsen, Lars Allan, 2004, In: Genetic Testing. 8, 4, p. 404-6 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome
Kanters, J. K., Fanoe, S., Larsen, Lars Allan, Bloch-Thomsen, P. E., Toft, E. & Christansen, M., 2004, In: Heart Rhythm. Vol. 1, p. 285-292Research output: Contribution to journal › Journal article › Research › peer-review
- 2005
- Published
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome
Boonen, S. E., Stahl, D., Kreiborg, S., Rosenberg, T., Kalscheuer, V., Larsen, Lars Allan, Tommerup, Niels & Brøndum-Nielsen, K., 2005, In: American Journal of Medical Genetics. Part A. Vol. 132, p. 324-328Research output: Contribution to journal › Journal article › Research › peer-review
- Published
High Throughput Single-Strand Conformation Polymorphism Analysis on a Microfabricated Capillary Array Electrophoresis Dervice
Tian, H., Emrich, C. A., Scherer, J., Mathies, R. A., Andersen, P. S., Larsen, Lars Allan & Christiansen, M., 2005, In: Electrophoresis. Vol. 26, p. 1834-1842Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutations in the HERG ion channel: A novel link between long QT syndrome and sudden death syndrome
Christiansen, M., Tønder, N., Larsen, Lars Allan, Andersen, P. S., Simonsen, H. B., Øyen, N., Kanters, J. K., Jacobsen, J. R., Fosdal, I., Wettrell, G. & Kjeldsen, K., 2005, In: American Journal of Cardiology. Vol. 95, p. 433-434Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutations in the genes KCND2 and KCND3 encoding the ion-channels Kv 4.2. and Kv 4.3, conducting the cardiac fast transient outward current ( ITo,f), are not a frequent cause of Long QT syndrome
Frank-Hansen, R., Larsen, Lars Allan, Andersen, P. S., Jespersgård, C. & Christiansen, M., 2005, In: Clinica Chimica Acta. Vol. 351, p. 95-100Research output: Contribution to journal › Journal article › Research › peer-review
- Published
One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region
Hougs, L., Havndrup, O., Bundgård, Henning, Køber, Lars Valeur, Vuust, J., Larsen, Lars Allan, Christiansen, M. & Andersen, P. S., 2005, In: European Journal of Human Genetics. 13, 2, p. 161-5 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
One-third of Danish hyperytrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region
Hougs, L., Havndrup, O., Bundgaard, H., Køber, L., Vuust, J., Larsen, Lars Allan, Christiansen, M. & Andersen, P. S., 2005, In: European Journal of Human Genetics. Vol. 13, p. 161-165Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Potassium Must Be Considered in Congenital Long QT Syndrome
Christiansen, M., Kjeldsen, K., Wettrell, G., Larsen, Lars Allan, Lundkvist, L., Andersen, P. S., Tran, C. T., Kanters, J. K. & Vuust, J., 2005, In: Cardiology. Vol. 5, p. 54-58Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The 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
Tümer, Asuman Zeynep, Henriksen, A. M., Bache, Iben, Larsen, Lars Allan, Brixen, K., Illum, N., Rasmussen, K. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 135A, p. 339-341Research output: Contribution to journal › Journal article › Research › peer-review
- 2006
- Published
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
Baekvad-Hansen, M., Tümer, Asuman Zeynep, Delicado, A., Erdogan, F., Tommerup, Niels & Larsen, Lars Allan, 2006, In: American Journal of Medical Genetics. Part A. 140A, 5, p. 427-433 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA.
Bak, M., Conley, L., Hedegaard, J., Larsen, Lars Allan, Sørensen, P., Bendixen, C. & Tommerup, Niels, 2006, In: Analytical Biochemistry. 358, 1, p. 111-9 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Hedgehog signaling in small-cell lung cancer: Frequent in vivo but a rare event in vitro
Vestergaard, J., Pedersen, M. W., Pedersen, N., Ensinger, C., Tümer, Asuman Zeynep, Tommerup, Niels, Poulsen, H. S. & Larsen, Lars Allan, 2006, In: Lung Cancer. 52, 3, p. 281-290 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics
Jespersgaard, C., Larsen, Lars Allan, Baba, S., Kukita, Y., Tahira, T., Christiansen, M., Vuust, J., Hayashi, K. & Andersen, P. S., 2006, In: Electrophoresis. 27, 19, p. 3816-3822 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening for fragilt X-syndrom. Internationale erfaringer
Vuust, J., Larsen, Lars Allan, Gronskov, K., Norgaard-Pedersen, B. & Brondum-Nielsen, K., 2006, In: Ugeskrift for læger. 168, 43, p. 3704-3709 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening of 99 Danish patients with congenital heart disease for GATA4 mutations
Zhang, L., Tümer, Asuman Zeynep, Jacobsen, J. R., Andersen, P. S., Tommerup, Niels & Larsen, Lars Allan, 2006, In: Genetic Testing. 10, 4, p. 277-80 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2007
- Published
A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome
Dahl, C., Grønskov, K., Larsen, Lars Allan, Guldberg, P. & Brøndum-Nielsen, K., 2007, In: Clinical Chemistry. 53, 4, p. 790-793 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients.
Nielsen, N. H., Winkel, B. G., Kanters, Jørgen K., Schmitt, Nicole, Hofman-Bang, J., Jensen, H. S., Bentzen, Bo Hjorth, Sigurd, B., Larsen, Lars Allan, Andersen, P. S., Kjeldsen, K., Grunnet, Morten, Christiansen, M., Olesen, Søren-Peter & Haunsø, Stig, 2007, In: Biochemical and Biophysical Research Communications. 354, 3, p. 776-82 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
Jakobsen, L. P., Ullmann, R., Christensen, S. B., Jensen, K. E., Molsted, K., Henriksen, K. F., Hansen, C., Knudsen, M. A. F., Larsen, Lars Allan, Tommerup, Niels & Tümer, Asuman Zeynep, 2007, In: Journal of Medical Genetics. 44, 6, p. 381-386 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Single-strand conformation polymorphism analysis using capillary array electrophoresis for large-scale mutation detection
Larsen, Lars Allan, Jespersgaard, C. & Andersen, P. S., 2007, In: Nature Protocols (Print Edition). 2, 6, p. 1458-1466 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
YKL-40 protein expression in the early developing human musculoskeletal system
Johansen, J. S., Høyer, P. E., Larsen, Lars Allan, Price, P. A. & Møllgård, Kjeld, 2007, In: Journal of Histochemistry & Cytochemistry. 55, 12, p. 1213-1228 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2008
- Published
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
Andersen, P. S., Havndrup, O., Hougs, L., Sørensen, K. M., Jensen, M., Larsen, Lars Allan, Hedley, P., Bie Thomsen, A. R., Moolman-Smook, J., Christiansen, M. & Bundgård, Henning, 2008, In: Human Mutation. 30, 3, p. 363-370 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly
Erdogan, F., Belloso, J. M., Gabau, E., Ajbro, K. D., Guitart, M., Ropers, H. H., Tommerup, Niels, Ullmann, R., Tümer, Asuman Zeynep & Larsen, Lars Allan, 2008, In: European Journal of Medical Genetics. 51, 1, p. 81-6 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells
Vestergaard, J., Lind-Thomsen, A., Pedersen, M. W., Jarmer, H. O., Bak, M., Hasholt, Lis Frydenreich, Tommerup, Niels, Tümer, Asuman Zeynep & Larsen, Lars Allan, 2008, In: DNA and Cell Biology. 27, 5, p. 251-U16Research output: Contribution to journal › Journal article › Research › peer-review
- Published
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
Erdogan, F., Larsen, Lars Allan, Zhang, L., Tümer, Asuman Zeynep, Tommerup, Niels, Chen, W., Jacobsen, J. R., Schubert, M., Jurkatis, J., Tzschach, A., Ropers, H. & Ullmann, R., 2008, In: Journal of Medical Genetics. 45, 11, p. 704-709 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
Buysse, K., Crepel, A., Menten, B., Pattyn, F., Antonacci, F., Veltman, J. A., Larsen, Lars Allan, Tümer, Asuman Zeynep, de Klein, A., van de Laar, I., Devriendt, K., Mortier, G. & Speleman, F., 2008, In: Journal of Medical Genetics. 45, 10, p. 672-678 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material
Sørensen, K., Andersen, P., Larsen, Lars Allan, Schwartz, M., Schouten, J. & Nygren, A., 2008, In: Analytical Chemistry. 80, p. 9363-9368 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2009
- Published
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
Zhang, L., Tümer, Asuman Zeynep, Møllgård, Kjeld, Barbi, G., Rossier, E., Bendsen, E., Møller, R. S., Ullmann, R., He, J., Papadopoulos, N., Tommerup, Niels & Larsen, Lars Allan, 2009, In: European Journal of Human Genetics.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development
Jakobsen, L. P., Borup, R., Vestergaard, J., Larsen, Lars Allan, Lage, K., Maroun, L. L., Kjær, Inger, Niemann, C. U., Andersen, M., Knudsen, M. A., Møllgård, Kjeld & Tommerup, Niels, 2009, In: Experimental & Molecular Medicine. 41, 2, p. 77-85 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genome-wide gene expression profiling of SCID mice with T-cell-mediated Colitis
Brudzewsky, D., Pedersen, Anders Elm, Claesson, Mogens Helweg, Gad, M., Kristensen, N. N., Lage, K., Jensen, T., Tommerup, Niels, Larsen, Lars Allan, Knudsen, S. & Tümer, Asuman Zeynep, 2009, In: Scandinavian Journal of Immunology. 69, 5, p. 437-46 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24
Hilhorst-Hofstee, Y., Tümer, Asuman Zeynep, Born, P., Knijnenburg, J., Hansson, K., Yatawara, V., Steensberg, J., Ullmann, R., Arkesteijn, G., Tommerup, Niels & Larsen, Lars Allan, 2009, In: American Journal of Medical Genetics. Part A. 149A, 8, p. 1830-3 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation
Clement, C. A., Kristensen, S. G., Møllgård, Kjeld, Pazour, G. J., Yoder, B. K., Larsen, Lars Allan & Christensen, Søren Tvorup, 2009, In: Journal of Cell Science. 122, Pt 17, p. 3070-82 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Using Nucleofection of siRNA Constructs for Knockdown of Primary Cilia in P19.CL6 Cancer Stem Cell Differentiation into Cardiomyocytes
Clement, C. A., Larsen, Lars Allan & Christensen, Søren Tvorup, 2009, Methods in Cell Biology. Sloboda, R. D. (ed.). Academic Press, Vol. 94. p. 181-197Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research
- 2010
- Published
Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples
Sørensen, K. M., Agergaard, P., Olesen, C., Andersen, P. S., Larsen, Lars Allan, Ostergaard, J. R., Schouten, J. P. & Christiansen, M., 2010, In: Journal of Molecular Diagnostics. 12, 2, p. 147-51 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Dissecting spatio-temporal protein networks driving human heart development and related disorders
Hansen, K. L., Møllgård, K., Greenway, S., Wakimoto, H., Gorham, J. M., Workman, C. T., Bendsen, E., Hansen, N. T., Rigina, O., Roque, F. S., Wiese, C., Christoffels, V. M., Roberts, A. E., Smoot, L. B., Pu, W. T., Donahoe, P. K., Tommerup, N., Brunak, S., Seidman, C. E., Seidman, J. G. & 1 others, , 2010, In: Molecular Systems Biology. 6, p. 381Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Haploinsufficiency of TAB2 causes congenital heart defects in humans
Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L., Van Loo, P., Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Asuman Zeynep, van Engelen, K., Menten, B., Mortier, G., Waggoner, D., Gewillig, M., Moreau, Y., Devriendt, K. & Larsen, Lars Allan, 2010, In: American Journal of Human Genetics. 86, 6, p. 839-49 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Recombinant Adeno-Associated Virus-Mediated microRNA Delivery into the Postnatal Mouse Brain Reveals a Role for miR-134 in Dendritogenesis in Vivo
Christensen, M., Larsen, Lars Allan, Kauppinen, S. & Schratt, G., 2010, In: Frontiers in Neural Circuits. 3, p. 16Research output: Contribution to journal › Journal article › Research › peer-review
- 2011
- Published
Kromosomforandringer ved medfødt hjertemisdannelse
Larsen, Lars Allan, 17 Jan 2011, In: Ugeskrift for Laeger. 173, 3, p. 194-6 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2012
- Published
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development
Hansen, K. L., Greenway, S. C., Rosenfeld, J. A., Wakimoto, H., Gorham, J. M., Segrè, A. V., Roberts, A. E., Smoot, L. B., Pu, W. T., C Pereira, A., Mesquita, S. M., Tommerup, Niels, Brunak, Søren, Ballif, B. C., Shaffer, L. G., Donahoe, P. K., Daly, M. J., Seidman, J. G., Seidman, C. E. & Larsen, Lars Allan, 2012, In: Proceedings of the National Academy of Sciences USA (PNAS). 109, 35, p. 14035-40 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients
Sørensen, K. M., El-Segaier, M., Fernlund, E., Errami, A., Bouvagnet, P., Nehme, N., Steensberg, J., Hjortdal, V. E., Soller, M., Behjati, M., Werge, Thomas, Kirchoff, M., Schouten, J., Tommerup, Niels, Andersen, P. S. & Larsen, Lars Allan, Mar 2012, In: American Journal of Medical Genetics. Part A. 158A, 4, p. 720-5 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
YKL-40 is differentially expressed in human embryonic stem cells and in cell progeny of the three germ layers
Brøchner, Christian Beltoft, Johansen, Julia Sidenius, Larsen, Lars Allan, Bak, M., Mikkelsen, H. B., Byskov, A. G., tcg964, tcg964 & Møllgård, Kjeld, Mar 2012, In: Journal of Histochemistry and Cytochemistry. 60, 3, p. 188-204 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2013
- Published
TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium
Clement, C. A., Ajbro, K. D., Koefoed, K., Vestergaard, M. L., Veland, I. R., Perestrello Ramos H de Jesus, M., Pedersen, Lotte Bang, Benmerah, A., tcg964, tcg964, Larsen, Lars Allan & Christensen, Søren Tvorup, 2013, In: Cell Reports. 3, 6, p. 1806-1814 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2014
- Published
Cilia and coordination of signaling networks during heart development
Koefoed, K., Veland, I. R., Pedersen, Lotte Bang, Larsen, Lars Allan & Christensen, Søren Tvorup, 2014, In: Organogenesis. 10, 1, p. 108-125 18 p.Research output: Contribution to journal › Review › Research › peer-review
- Published
Sequence analysis of 17 NRXN1 deletions
Hoeffding, L. K. E., Hansen, T., Ingason, A., Doung, L., Thygesen, J. H., Møller, R. S., Tommerup, Niels, Kirov, G., Rujescu, D., Larsen, Lars Allan & Werge, Thomas, Jan 2014, In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 165, 1, p. 52-61 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Of mice and men: molecular genetics of congenital heart disease
Andersen, T. A., Troelsen, K. D. L. L. & Larsen, Lars Allan, Apr 2014, In: Cellular and molecular life sciences : CMLS. 71, 8, p. 1327-1352 26 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Brain Barriers and a Subpopulation of Astroglial Progenitors of Developing Human Forebrain Are Immunostained for the Glycoprotein YKL-40
Holst, Camilla Bjørnbak, Brøchner, Christian Beltoft, Larsen, Lars Allan, Johansen, Julia Sidenius & Møllgård, Kjeld, May 2014, In: Journal of Histochemistry and Cytochemistry. 62, 5, p. 369-88 20 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2015
- Published
Coordination of TGFβ/BMP signaling is associated with the primary cilium
Lindbæk, L., Warzecha, C. B., Koefoed, K., Mogensen, J. B., Schmid, F., Pedersen, Lotte Bang, Larsen, Lars Allan & Christensen, Søren Tvorup, 2015, In: Cilia. 4, Suppl. 1, 1 p., P17.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- 2016
- Published
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family
Farooq, M., Fatima, A., Mang, Y., Hansen, Lars, Kjaer, K. W., Baig, S. M., Larsen, Lars Allan & Tommerup, Niels, Mar 2016, In: Journal of Human Genetics. 61, 3, p. 271-273 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
How Suitable Are Registry Data for Recurrence Risk Calculations? Validation of Diagnoses on 1,593 Families With Congenital Heart Disease
Ellesøe, S. G., Jensen, A. B., Ängquist, Lars, Hjortdal, V. E., Larsen, Lars Allan & Brunak, Søren, Mar 2016, In: World journal for pediatric & congenital heart surgery. 7, 2, p. 169-77 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature
Ellesøe, S. G., Johansen, M. M., Bjerre, J. V., Hjortdal, V. E., Brunak, Søren & Larsen, Lars Allan, 1 May 2016, In: Congenital Heart Disease. 11, 3, p. 283–290 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2017
- Published
Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis
Andersen, M. R., Farooq, M., Rasmussen, K. K., Kjaer, K. W., Simony, A., Christensen, Søren Tvorup & Larsen, Lars Allan, 2017, In: Spine. 42, 12, p. E702–E707 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia
Marthin, J. K., Stevens, E. M., Larsen, Lars Allan, Christensen, Søren Tvorup & Nielsen, Kim G., 23 Mar 2017, In: Cilia. 6, 9 p., 3.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
Abdullah, U., Farooq, M., Mang, Y., Marriam Bakhtiar, S., Fatima, A., Hansen, Lars, Kjaer, K. W., Larsen, Lars Allan, Faryal, S., Tommerup, Niels & Mahmood Baig, S., Dec 2017, In: European Journal of Medical Genetics. 60, 12, p. 627-630 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2018
- Published
CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium
Mönnich, M., Borgeskov, L., Breslin, L., Jakobsen, L., Rogowski, M., Doganli, Canan, Schrøder, J. M., Mogensen, J. B., Blinkenkjær, L., Harder, L. M., Lundberg, E., Geimer, S., Christensen, Søren Tvorup, Andersen, J. S., Larsen, Lars Allan & Pedersen, Lotte Bang, 2018, In: Cell Reports. 22, 10, p. 2584-2592 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Challenges for the sustainability of university-run biobanks
Kongsholm, Nana Cecilie Halmsted, Christensen, Søren Tvorup, Herrmann, Janne Rothmar, Larsen, Lars Allan, Minssen, Timo, Pedersen, Lotte Bang, Rajam, N., Tommerup, Niels, Tupasela, A. M. & Schovsbo, Jens Hemmingsen, 2018, In: Biopreservation and Biobanking. 16, 4, p. 312-321 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases
Schmid, F. M., Schou, K. B., Vilhelm, M. J., Holm, M. S., Breslin, L., Farinelli, P., Larsen, Lars Allan, Andersen, J. S., Pedersen, Lotte Bang & Christensen, Søren Tvorup, 2018, In: Journal of Cell Biology. 217, 1, p. 151-161 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The E3 ubiquitin ligase SMURF1 regulates cell-fate specification and outflow tract septation during mammalian heart development
Rasmussen, K. K., Skat-Rørdam, Josephine, Andersen, P., Warzecha, C. B., Pye, M., Andersen, T. A., Ajbro, K. D., Bendsen, E., Narimatsu, M., Vilhardt, Frederik, Pedersen, Lotte Bang, Wrana, J. L., Anderson, R. H., Møllgård, Kjeld, Christensen, Søren Tvorup & Larsen, Lars Allan, 2018, In: Scientific Reports. 8, 1, 14 p., 9542.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Familial co-occurrence of congenital heart defects follows distinct patterns
Ellesøe, S. G., Workman, C. T., Bouvagnet, P., Loffredo, C. A., McBride, K. L., Hinton, R. B., van Engelen, K., Gertsen, E. C., Mulder, B. J. M., Postma, A. V., Anderson, R. H., Hjortdal, V. E., Brunak, Søren & Larsen, Lars Allan, Mar 2018, In: European Heart Journal. 39, 12, p. 1015–1022Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
Haploinsufficiency of ARHGAP42 is associated with hypertension
Fjorder, A. S., Rasmussen, Malene Bøgehus, Mehrjouy, M. M., Nazaryan, Lusine, Hansen, C., Bak, M., Grarup, Niels, Nørremølle, Anne, Larsen, Lars Allan, drb459, drb459, Hansen, Torben, Tommerup, Niels & Bache, Iben, 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Model system identification of novel congenital heart disease gene candidates: focus on RPL13
Schroeder, A. M., Allahyari, M., Vogler, G., Missinato, M. A., Nielsen, T., Yu, M. S., Theis, J. L., Larsen, Lars Allan, Goyal, P., Rosenfeld, J. A., Nelson, T. J., Olson, T. M., Colas, A. R., Grossfeld, P. & Bodmer, R., 2019, In: Human Molecular Genetics. 28, 23, p. 3954-3969 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Patterns of co-occurrence of congenital heart defects follows distinct patterns
Ellesøe, S. G., Workman, C. T., Bouvagnet, P., Loffredo, C. A., McBride, K. L., Hinton, R. B., van Engelen, K., Gertsen, E. C., Mulder, B. J. M., Postma, A. V., Anderson, R. H., Hjortdal, Vibeke Elisabeth, Brunak, Søren & Larsen, Lars Allan, 2019, In: European Journal of Human Genetics. 26, p. 106 1 p.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- 2020
- Published
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
Farooq, M., Lindbæk, L., Krogh, N., Doganli, C., Keller, C., Mönnich, M., Gonçalves, A. B., Sakthivel, S., Mang, Y., Fatima, A., Andersen, V. S., Hussain, M. S., Eiberg, H., Hansen, L., Kjaer, K. W., Gopalakrishnan, J., Pedersen, L. B., Møllgård, K., Nielsen, H., Baig, S. M. & 3 others, , 2020, In: Nature Communications. 11, 16 p., 5816.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
Izarzugaza, J. M. G., Ellesøe, S. G., Doganli, Canan, Ehlers, Natasja Spring, Dalgaard, M. D., Audain, E., Dombrowsky, G., Banasik, Karina, Sifrim, A., Wilsdon, A., Thienpont, B., Breckpot, J., Gewillig, M., Brook, J. D., Hitz, M., Larsen, Lars Allan, Brunak, Søren & Competence Network for Congenital Heart Defects, Germany, C. N. F. C. H. D. G., 2020, In: Genome Medicine. 12, 1, 13 p., 76.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Audain, E., Wilsdon, A., Breckpot, J., Izarzugaza, J. M. G., Fitzgerald, T. W., Kahlert, A. K., Sifrim, A., Wünnemann, F., Perez-Riverol, Y., Abdul-Khaliq, H., Bak, M., Bassett, A. S., Benson, W. D., Berger, F., Daehnert, I., Devriendt, K., Dittrich, S., Daubeney, P. E. F., Garg, V., Hackmann, K. & 30 others, , 2021, In: PLOS Genetics. 17, 7, e1009679.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutation burden in patients with small unrepaired atrial septal defects☆
Nielsen, A. K. M., Nyboe, C., Ovesen, A. S. L., Udholm, S., Larsen, M. M. M., Hjortdal, Vibeke Elisabeth & Larsen, Lars Allan, 2021, In: International Journal of Cardiology Congenital Heart Disease. 4, 6 p., 100164.Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- Published
Comparison of Outcome in Patients With Familial Versus Spontaneous Atrial Septal Defect
Nielsen, A. K. M., Ellesøe, S. G., Larsen, Lars Allan, Hjortdal, Vibeke Elisabeth & Nyboe, C., 2022, In: The American Journal of Cardiology. 173, p. 128-131Research output: Contribution to journal › Journal article › Research › peer-review
- Published
MCPH1: A Novel Case Report and a Review of the Literature
Caraffi, S. G., Pollazzon, M., Farooq, M., Fatima, A., Larsen, Lars Allan, Zuntini, R., Napoli, M. & Garavelli, L., 2022, In: Genes. 13, 4, 634.Research output: Contribution to journal › Review › Research › peer-review
- 2023
- Published
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement
Munch, Tina Nørgaard, Hedley, P. L., Hagen, C. M., Baekvad-Hansen, M., Geller, F., Bybjerg-Grauholm, J., Nordentoft, Merete, Borglum, A. D., Werge, Thomas, Melbye, M., Hougaard, D. M., Larsen, Lars Allan, Christensen, Søren Tvorup & Christiansen, M., 2023, In: Brain Communications. 5, 1, 14 p., fcad004.Research output: Contribution to journal › Journal article › Research › peer-review
- 2024
- Published
TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant
Møller Nielsen, A. K., Dehn, A. M., Hjortdal, Vibeke Elisabeth & Larsen, Lars Allan, 2024, In: European Journal of Medical Genetics. 68, 6 p., 104920.Research output: Contribution to journal › Review › Research › peer-review
- Published
Pericardial delta like non-canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition
Jensen, C. H., Johnsen, R. H., Eskildsen, T., Baun, C., Ellman, D. G., Fang, S., Bak, S. T., Hvidsten, S., Larsen, Lars Allan, Rosager, A. M., Riber, L. P., Schneider, M., De Mey, J., Thomassen, Mads, Burton, M., Uchida, S., Laborda, J. & Andersen, D. C., 2024, In: Clinical and Translational Medicine. 14, 2, 18 p., e1565.Research output: Contribution to journal › Journal article › Research › peer-review
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CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium
Research output: Contribution to journal › Journal article › Research › peer-review
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TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium
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Challenges for the sustainability of university-run biobanks
Research output: Contribution to journal › Journal article › Research › peer-review
Published