Lars Hansen

Lars Hansen

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    1. Published

      A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

      Anjum, I., Eiberg, Hans Rudolf Lytchoff, Baig, S. M., Tommerup, Niels & Hansen, Lars, Mar 2010, In: Molecular Vision. 16, p. 549-55 6 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    2. Published

      Lessons learned from 40 novel PIGA patients and a review of the literature

      Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A. M., Hansen, L. & 34 others, Jezela-Stanek, A., Karsenty, C., Kievit, A., Kooy, F. R., Korff, C. M., Kragh Hansen, J., Larsen, M., Layet, V., Lesca, G., McBride, K. L., Meuwissen, M., Mignot, C., Montomoli, M., Moore, H., Naudion, S., Nava, C., Nougues, M. C., Parrini, E., Pastore, M., Schelhaas, J. H., Skinner, S., Szczałuba, K., Thomas, A., Thomassen, M., Tranebjærg, Lisbeth, van Slegtenhorst, M., Wolfe, L. A., Lal, D., Gardella, E., Bomme Ousager, L., Brünger, T., Helbig, I., Krawitz, P. & Møller, R. S., 2020, In: Epilepsia. 61, 6, p. 1142-1155

      Research output: Contribution to journal › Journal article › Research › peer-review

    3. Published

      Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

      Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, L., Olsen, O. & Nielsen, Jørgen Erik, Nov 2012, In: Clinical Genetics. 82, 3, p. 256-63 8 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    4. Published

      Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.

      Eiberg, Hans Rudolf Lytchoff, Troelsen, J., Boyd, M., Mikkelsen, Annemette Friis, Mengel-From, J., Kjaer, K. W. & Hansen, Lars, 2008, In: Human Genetics. 123, 2, p. 177-87 10 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    5. Published

      Mapping of Hereditary Trichilemmal Cyst (TRICY1) to Chromosome 3p24-p21.2 and Exclusion of β-CATENIN and MLH1

      Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hansen, C., Mohr, J., Teglbjærg, P. S. & Kjaer, K. W., 15 Feb 2005, In: American Journal of Medical Genetics. 133 A, 1, p. 44-47 4 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    6. Published

      A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

      Eiberg, Hans Rudolf Lytchoff, Mikkelsen, Annemette Friis, Bak, M., Tommerup, Niels, Lund, A. M., Wenzel, Anne, Sabarinathan, R., Gorodkin, Jan, Bang-Berthelsen, C. H. & Hansen, Lars, 2019, In: Molecular Vision. 25, p. 1-11 11 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    7. Published

      A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene

      Eiberg, Hans Rudolf Lytchoff, Olsson, J. B., Bak, M., Bang-Berthelsen, C. H., Troelsen, J. T. & Hansen, Lars, 2023, In: European Journal of Human Genetics. 31, p. 1440-1446 7 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    8. Published

      Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

      Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T. & Tranebjaerg, L., 2006, In: Journal of Medical Genetics. 43, 5, p. 435-440 5 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    9. 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, Tommerup, Niels, Christensen, Søren Tvorup & Larsen, Lars Allan, 2020, In: Nature Communications. 11, 16 p., 5816.

      Research output: Contribution to journal › Journal article › Research › peer-review

    10. Published

      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

      Farooq, M., Troelsen, J. T., Boyd, M., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S. M., Tommerup, Niels, Baig, S. M. & Kjaer, K. W., Jun 2010, In: European Journal of Human Genetics. 18, 6, p. 733-6 3 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    11. 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

    12. Published

      Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

      Grønskov, K., Dooley, C. M., Østergaard, Elsebet, Kelsh, R. N., Hansen, Lars, Levesque, M. P., Vilhelmsen, K., Møllgård, Kjeld, Stemple, D. L. & Rosenberg, T., 7 Mar 2013, In: American Journal of Human Genetics. 92, 3, p. 415-21 7 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    13. Published

      RUNX2 analysis of Danish cleidocranial dysplasia families

      Hansen, Lars, Riis, A. K., Silahtaroglu, Asli, Hove, H., Lauridsen, E., Eiberg, Hans Rudolf Lytchoff & Kreiborg, Sven, 2011, In: Clinical Genetics. 79, 3, p. 254-63 10 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    14. Published

      Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

      Hansen, Lars, Tawamie, H., Murakami, Y., Mang, Y., ur Rehman, S., Buchert, R., Schaffer, S., Muhammad, S., Bak, M., Nöthen, M. M., Bennett, Eric Paul, Maeda, Y., Aigner, M., Reis, A., Kinoshita, T., Tommerup, Niels, Baig, S. M. & Abou Jamra, R., 4 Apr 2013, In: American Journal of Human Genetics. 92, 4, p. 575-83 9 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    15. Published

      The barley genes acl1 and Acl3 encoding acyl carrier proteins I and III are located on different chromosomes

      Hansen, Lars & von Wettstein-Knowles, P., Oct 1991, In: MGG Molecular & General Genetics. 229, 3, p. 467-478 12 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    16. Published

      The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

      Hansen, Lars, Comyn, S., Mang, Y., Lind-Thomsen, A., Myhre, L., Jean, F., Eiberg, Hans Rudolf Lytchoff, Tommerup, Niels, Rosenberg, T. & Pilgrim, D., Nov 2014, In: European Journal of Human Genetics. 22, 11, p. 1290-1297 8 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    17. Published

      A mutation map for human glycoside hydrolase genes

      Hansen, Lars, Husein, D. M., Gericke, B., Hansen, Torben, Pedersen, Oluf Borbye, Tambe, M. A., Freeze, H. H., Naim, H. Y., Henrissat, B., Wandall, Hans H., Clausen, Henrik & Bennett, Eric Paul, 2020, In: Glycobiology. 30, 8, p. 500-515 16 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    18. Published

      A glycogene mutation map for discovery of diseases of glycosylation

      Hansen, Lars, Lind-Thomsen, A., Joshi, Hiren Jitendra, Pedersen, N. B., Have, C. T., Kong, Y., Wang, S., Sparso, T., Grarup, Niels, Vester-Christensen, M. B., Schjoldager, Katrine Ter-Borch Gram, Freeze, H. H., Hansen, Torben, Pedersen, Oluf Borbye, Henrissat, B., Mandel, Ulla, Clausen, Henrik, Wandall, Hans H. & Bennett, Eric Paul, 2015, In: Glycobiology. 25, 2, p. 211-224 14 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    19. Published

      Author response: Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation

      Hansen, Lars & Rosenberg, T., 1 Sep 2012, In: Investigative Ophthalmology and Visual Science. 53, 10, 1 p., 6666.

      Research output: Contribution to journal › Comment/debate › Research › peer-review

    20. Published

      Genetic heterogeneity in microcornea-cataract: Five novel mutations in CRYAA, CRYGD, and GJA

      Hansen, Lars, Yao, W. L., Eiberg, Hans Rudolf Lytchoff, Kjær, K. W., Baggesen, K., Hejtmancik, J. F. & Rosenberg, T., 2007, In: Investigative Ophthalmology & Visual Science. 48, 9, p. 3937-3944 7 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    21. Published

      The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

      Hansen, Lars, Yao, W., Eiberg, Hans Rudolf Lytchoff, Funding, M., Riise, R., Kjær, K. W., Hejtmancik, J. F. & Rosenberg, T., 2006, In: Molecular Vision. 12, 116, p. 1033-1039 7 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    22. Published

      Three cDNA clones for barley leaf acyl carrier proteins I and III

      Hansen, Lars, Nov 1987, In: Carlsberg Research Communications. 52, 6, p. 381-392 12 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    23. Published

      Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

      Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Barrett, T., Bek, T., Kjærsgaard, P., Tranebjærg, Lisbeth & Rosenberg, T., 2005, In: European Journal of Human Genetics. 13, 12, p. 1275-1284

      Research output: Contribution to journal › Journal article › Research › peer-review

    24. Published

      Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

      Hansen, Lars, Mikkelsen, Annemette Friis, Nürnberg, P., Nürnberg, G., Anjum, I., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2009, In: Investigative Ophthalmology & Visual Science. 50, 7, p. 3291-303 12 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    25. Published

      Isoform-specific mucin type O-glycosylation maintain epithelial homeostasis

      Bagdonaite, Ieva , E.M.H., P., K., L., Vakhrushev, Sergey, Hansen, Lars, Joshi, Hiren Jitendra, Bennett, Eric Paul, Dabelsteen, Sally & Wandall, Hans H., 2017, In: Glycoconjugate Journal. 34, Suppl. 1, p. S42 1 p., Abstract 78.

      Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

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