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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2020
  2. Published

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Krab, L. C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J. B., Bisgaard, A-M., Fitzpatrick, D. R., Gudmundsson, S., Huisman, S. A., Kalayci, T., Maas, S. M., Martinez, F., McKee, S., Menke, L. A., Mulder, P. A., Murch, O. D., Parker, M., Pie, J., Ramos, F. J., Rieubland, C., Rosenfeld Mokry, J. A., Scarano, E., Shinawi, M., Gómez-Puertas, P., Hennekam, R. C. & Tümer, Z., May 2020, In : Human Genetics. 139, 5, p. 575-592 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2019
  4. Published

    Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Sands, T. T., Miceli, F., Lesca, G., Beck, A. E., Sadleir, L. G., Arrington, D. K., Schönewolf-Greulich, B., Moutton, S., Lauritano, A., Nappi, P., Soldovieri, M. V., Scheffer, I. E., Mefford, H. C., Stong, N., Heinzen, E. L., Goldstein, D. B., Perez, A. G., Kossoff, E. H., Stocco, A., Sullivan, J. A., Shashi, V., Gerard, B., Francannet, C., Bisgaard, A-M., Tümer, Z., Willems, M., Rivier, F., Vitobello, A., Thakkar, K., Rajan, D. S., Barkovich, A. J., Weckhuysen, S., Cooper, E. C., Taglialatela, M. & Cilio, M. R., Aug 2019, In : Annals of Neurology. 86, 2, p. 181-192 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

    Stahlhut, M., Downs, J., Aadahl, M., Leonard, H., Bisgaard, A-M. & Nordmark, E., Jan 2019, In : Disability and rehabilitation. 41, 2, p. 133-141 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Analysis of the Phenotypes in the Rett Networked Database

    Frullanti, E., Papa, F. T., Grillo, E., Clarke, A., Ben-Zeev, B., Pineda, M., Bahi-Buisson, N., Bienvenu, T., Armstrong, J., Roche Martinez, A., Mari, F., Nissenkorn, A., Lo Rizzo, C., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A-M., Ravn, K., Bosnjak, V. M., Hayek, J., Khajuria, R., Montomoli, B., Cogliati, F., Pintaudi, M., Hadzsiev, K., Craiu, D., Voinova, V., Djukic, A., Villard, L. & Renieri, A., 2019, In : BMC Genomics. 2019, p. 6956934

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

    Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., 2019, In : Clinical Genetics. 95, 2, p. 221-230 10 p.

    Research output: Contribution to journalReviewResearchpeer-review

  8. Published

    Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

    Stahlhut, M., Esbensen, B. A., Larsen, J. L., Bisgaard, A-M., Downs, J. & Nordmark, E., 2019, In : Qualitative Health Research. 29, 4, p. 609-619 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Schönewolf-Greulich, B., Bisgaard, A-M., Dunø, M., Jespersgaard, C., Rokkjaer, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Z., 2019, In : Clinical Genetics. 95, 3, p. 403-408 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2018
  11. Published

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A-M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. & Hennekam, R. C., Oct 2018, In : Nature Reviews. Genetics. 19, 10, p. 649-666 18 p.

    Research output: Contribution to journalReviewResearchpeer-review

  12. 2017
  13. Published

    Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome

    Stahlhut, M., Hill, K., Bisgaard, A-M., Jensen, A. K., Andersen, M., Leonard, H. & Downs, J., Oct 2017, In : Journal of Child Neurology. 32, 12, p. 1009-1013 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Phenotypes and genotypes in individuals with SMC1A variants

    Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published
  16. Published

    Building the repertoire of measures of walking in Rett syndrome

    Stahlhut, M., Downs, J., Leonard, H., Bisgaard, A-M. & Nordmark, E., 2017, In : Disability and rehabilitation. 39, 19, p. 1926-1931

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Functional abilities in aging women with Rett syndrome - the Danish cohort

    Schönewolf-Greulich, B., Stahlhut, M., Larsen, J. L., Syhler, B. & Bisgaard, A-M., 2017, In : Disability and rehabilitation. 39, 9, p. 911-918

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2016
  19. Published

    The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Schönewolf-Greulich, B., Tejada, M-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A-M. & Tümer, Z., Jun 2016, In : Clinical Genetics. 89, 6, p. 733-8 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

    Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., Munns, C., Motil, K., Tarquinio, D., Shapiro, J. R., Brismar, T., Ben-Zeev, B., Bisgaard, A-M., Coppola, G., Ellaway, C., Freilinger, M., Geerts, S., Humphreys, P., Jones, M., Lane, J., Larsson, G., Lotan, M., Percy, A., Pineda, M., Skinner, S., Syhler, B., Thompson, S., Weiss, B., Witt Engerström, I. & Downs, J., 2016, In : P L o S One. 11, 2, p. e0146824

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Validating the Rett Syndrome Gross Motor Scale

    Downs, J., Stahlhut, M., Wong, K., Syhler, B., Bisgaard, A-M., Jacoby, P. & Leonard, H., 2016, In : P L o S One. 11, 1, p. e0147555

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2015
  23. Published
  24. Published
  25. Published

    Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

    Schönewolf-Greulich, B., Dunø, M., Ravn, K., Brøndum-Nielsen, K. & Bisgaard, A-M., 29 Jun 2015, In : Ugeskrift for Laeger. 177, 27, p. V12140731

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Epilepsy in Rett syndrome--lessons from the Rett networked database

    Nissenkorn, A., Levy-Drummer, R. S., Bondi, O., Renieri, A., Villard, L., Mari, F., Mencarelli, M. A., Lo Rizzo, C., Meloni, I., Pineda, M., Armstrong, J., Clarke, A., Bahi-Buisson, N., Mejaski, B. V., Djuric, M., Craiu, D., Djukic, A., Pini, G., Bisgaard, A-M., Melegh, B., Vignoli, A., Russo, S., Anghelescu, C., Veneselli, E., Hayek, J. & Ben-Zeev, B., Apr 2015, In : Epilepsia. 56, 4, p. 569-76 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Cornelia de Lange Syndrome

    Boyle, M. I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A-M. & Tümer, Z., 2015, In : Clinical Genetics. 572, 1, p. 2015 Nov 1;572(1):130-4.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2014
  29. Published

    Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

    Grønskov, K., Diness, B., Stahlhut, M., Zilmer, M., Tümer, Z., Bisgaard, A-M. & Brøndum-Nielsen, K., 15 Apr 2014, In : European Journal of Medical Genetics. 57, 6, p. 284-7 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 2013
  31. Published
  32. 2012
  33. Published

    Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

    Grillo, E., Villard, L., Clarke, A., Ben Zeev, B., Pineda, M., Bahi-Buisson, N., Hryniewiecka-Jaworska, A., Bienvenu, T., Armstrong, J., Roche-Martinez, A., Mari, F., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A-M., Mejaški Bošnjak, V., Polgár, N., Cogliati, F., Ravn, K., Pintaudi, M., Melegh, B., Craiu, D., Djukic, A. & Renieri, A., 2012, In : Human Mutation. 33, 7, p. 1031-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 2004
  35. Published

    Changes in body water distribution during treatment with inhaled steroid in pre-school children

    Heitmann, B. L., Anhøj, J., Bisgaard, A. M., Ward, L. & Bisgaard, H., 19 Jun 2004, In : Annals of Human Biology. 31, 3, p. 333-41 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 36882873