Research output per year
Research output per year
Personal profile
Expertises
Rare congenital disorders, including craniofacial syndroms and skeletal dysplasias. Neurofibromatosis von Recklinghausen; Osteogenesis Imperfecta, and other congential syndromes.
Main research areas
Craniofacial disorders, including on-going research field of the aspects of facial and cranial asymmetry.
Skeletal Dysplasias, In-born connective tissue defects; Neurofibromatosis von Recklinghausen (participation with
Danish Cancer Society Research Center)
Current research
Head of the Nordic database for Rare Disorders, Raredis; Descriptional study on Neurofibromatosis von Recklinghausen (participation with Danish Cancer Society Research Center): aspects of living with NF1.
Potential conflicts of interest
None.
Fingerprint
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
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Endocrine morbidity in neurofibromatosis 1: A nationwide, register-based cohort study
Kenborg, L., Ebbehoj, A., Ejerskov, C., Handrup, M. M., Østergaard, J. R., Hove, H., Doser, K., Krøyer, A., Mulvihill, J. J., Winther, J. F. & Stochholm, K., 2 Aug 2023, In: European Journal of Endocrinology. 189, 2, p. 190-198 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Cohort profile: life with neurofibromatosis 1 - the Danish NF1 cohort
Doser, K., Hove, H., Østergaard, J. R., Bidstrup, P. E., Dalton, S. O., Handrup, M. M., Ejerskov, C., Krøyer, A., Doherty, M. A., Møllegaard Jepsen, J. R., Mulvihill, J. J., Winther, J. F. & Kenborg, L., 20 Sep 2022, In: BMJ Open. 12, 9, p. e065340 e065340.Research output: Contribution to journal › Journal article › Research › peer-review
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Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
Schönewolf-Greulich, B., Karstensen, H. G., Hjortshøj, T. D., Jørgensen, F. S., Harder, K. M., Frevert, S., Hove, H. & Diness, B. R., Oct 2022, In: European Journal of Medical Genetics. 65, 10, 104590.Research output: Contribution to journal › Journal article › Research › peer-review
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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia
Lines, M. A., Goldenberg, P., Wong, A., Srivastava, S., Bayat, A., Hove, H., Karstensen, H. G., Anyane-Yeboa, K., Liao, J., Jiang, N., May, A., Guzman, E., Morleo, M., D'Arrigo, S., Ciaccio, C., Pantaleoni, C., Castello, R., McKee, S., Ong, J., Zibdeh-Lough, H., & 12 others, Jun 2022, In: American Journal of Medical Genetics. Part A. 188, 6, p. 1667-1675 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study
Kenborg, L., Boschini, C., Bidstrup, P. E., Dalton, S. O., Doser, K., Nielsen, T. T., Krøyer, A., Johansen, C., Frederiksen, K., Sørensen, S. A., Hove, H., Østergaard, J. R., Mulvihill, J. J. & Winther, J. F., Mar 2022, In: Journal of Medical Genetics. 59, 3, p. 237-242 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus)
Activities
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Achondroplasia - an up-date
Hanne Buciek Hove (Lecturer)
21 Jan 2019Activity: Talk or presentation › Lecture and oral contribution
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Prader-Willi syndrom
Hanne Buciek Hove (Lecturer)
6 Apr 2018Activity: Talk or presentation › Lecture and oral contribution
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Nordic Skeletal Dysplasia Symposium
Hanne Buciek Hove (Organizer)
8 Mar 2018 → 9 Mar 2018Activity: Participating in or organising an event › Organisation of and participation in conference
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Nordic network for Rare Disease (External organisation)
Hanne Buciek Hove (Member)
2017 → 2019Activity: Membership › Membership in board of company or public organisation
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4th Nordic Conference on Rare Diseases.
Hanne Buciek Hove (Lecturer)
Sep 2016Activity: Talk or presentation › Lecture and oral contribution