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Rigshospitalet - a part of Copenhagen University Hospital

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)

Employment

Chief Consultant

Department of Paediatrics and Adolescent Medicine

Rigshospitalet

1 Jan 2017 → present

Consultant, head of the craniofacial team, Rigshospitalet, Copenhagen University Hospital, Denmark

overlæge PH.D. Dr. med

Clincial Genetics, Department of

Rigshospitalet

1 Jan 20101 Jul 2017

Research output

Facial Asymmetry in Nonsyndromic and Muenke Syndrome-Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

Öwall, L., Darvann, T. A., Hove, H. B., Heliövaara, A., Dunø, M., Kreiborg, S. & Hermann, N. V., Jun 2021, In: Cleft Palate-Craniofacial Journal. 58, 6, p. 687-696 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with Marfan Syndrome assessed by HR-pQCT

Folkestad, L., Groth, K. A., Shanbhogue, V., Hove, H., Kyhl, K., Østergaard, J. R., Jørgensen, N. R., Andersen, N. H. & Gravholt, C. H., Dec 2020, In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 35, 12, p. 2335-2344 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

Trimouille, A., Tingaud-Sequeira, A., Lacombe, D., Duelund Hjortshøj, T., Kreiborg, S., Buciek Hove, H. & Rooryck, C., Oct 2020, In: Clinical Genetics. 98, 4, p. 384-389 6 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1

Kjaer, T. K., Andersen, E. W., Olsen, M., Kenborg, L., Bidstrup, P. E., Doser, K., Hove, H., Østergaard, J. R., Johansen, C., Sørensen, S. A., Mulvihill, J. J., Winther, J. F. & Dalton, S. O., Aug 2020, In: European journal of human genetics : EJHG. 28, 8, p. 1028-1033 6 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Unique skeletal manifestations in patients with Primrose syndrome

Arora, V., Leon, E., Diaz, J., Hove, H. B., Carvalho, D. R., Kurosawa, K., Nishimura, N., Nishimura, G., Saxena, R., Ferreira, C., Puri, R. D. & Verma, I. C., Aug 2020, In: European Journal of Medical Genetics. 63, 8, p. 103967

Research output: Contribution to journalJournal articleResearchpeer-review

Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

Doser, K., Andersen, E. W., Kenborg, L., Dalton, S. O., Jepsen, J. R. M., Krøyer, A., Østergaard, J., Hove, H., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Bidstrup, P. E., Jul 2020, In: American Journal of Medical Genetics. Part A. 182, 7, p. 1704-1715 12 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

Kenborg, L., Duun-Henriksen, A. K., Dalton, S. O., Bidstrup, P. E., Doser, K., Rugbjerg, K., Pedersen, C., Krøyer, A., Johansen, C., Andersen, K. K., Østergaard, J. R., Hove, H., Sørensen, S. A., Riccardi, V. M., Mulvihill, J. J. & Winther, J. F., Jun 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 6, p. 1069-1078 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

Bayat, A., Dunø, M., Kirchhoff, M., Jørgensen, F. S., Nishimura, G. & Hove, H. B., Jun 2020, In: Molecular Syndromology. 11, 2, p. 83-89 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Primrose syndrome: Characterization of the phenotype in 42 patients

Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., Sandoval, R. L., Stumpel, C., Stuurman, K. E., Cordeddu, V., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C. & Hennekam, R. C., Jun 2020, In: Clinical Genetics. 97, 6, p. 890-901 12 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Defining the clinical phenotype of Saul-Wilson syndrome

Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., Tiller, G. E., Wolfe, L. A., Merideth, M., Carvalho, D. R., Duker, A. L., Bratke, H., Haug, M. G., Rohena, L., Hove, H. B., Xia, Z-J., Ng, B. G., Freeze, H. H., Gabriel, M., Russi, A. H. S., Brick, L., Kozenko, M., Earl, D. L., Tham, E., Nishimura, G., Phillips, J. A., Gahl, W. A., Hamid, R., Jackson, A. P., Grigelioniene, G. & Bober, M. B., May 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 5, p. 857-866 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, B. R., Risom, L., Svaneby, D., Aagaard, M. M., Vogel, I., Gjørup, H., Davidsen, M., Hellfritzsch, M. B., Lauridsen, E. & Gregersen, P. A., Feb 2020, In: European Journal of Medical Genetics. 63, 2, p. 103650

Research output: Contribution to journalJournal articleResearchpeer-review

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Weiss, K., Lazar, H. P., Kurolap, A., Martinez, A. F., Paperna, T., Cohen, L., Smeland, M. F., Whalen, S., Heide, S., Keren, B., Terhal, P., Irving, M., Takaku, M., Roberts, J. D., Petrovich, R. M., Schrier Vergano, S. A., Kenney, A., Hove, H., DeChene, E., Quinonez, S. C., Colin, E., Ziegler, A., Rumple, M., Jain, M., Monteil, D., Roeder, E. R., Nugent, K., van Haeringen, A., Gambello, M., Santani, A., Medne, L., Krock, B., Skraban, C. M., Zackai, E. H., Dubbs, H. A., Smol, T., Ghoumid, J., Parker, M. J., Wright, M., Turnpenny, P., Clayton-Smith, J., Metcalfe, K., Kurumizaka, H., Gelb, B. D., Baris Feldman, H., Campeau, P. M., Muenke, M., Wade, P. A. & Lachlan, K., Feb 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 2, p. 389-397 9 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Phenotypic variability in Muenke syndrome-observations from five Danish families

Öwall, L., Kreiborg, S., Dunø, M., Hermann, N. V., Darvann, T. A. & Hove, H., 2020, In: Coronary Artery Disease. 29, 1, p. 1-9

Research output: Contribution to journalJournal articleResearchpeer-review

Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry

Kristensen, M. H., Schmidt, S. A. J., Kibsgaard, L., Hove, H., Sommerlund, M. & Koppelhus, U., 2020, In: Clinical Epidemiology. 12, p. 651-657 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Hepp, N., Frederiksen, A. L., Dunø, M., Jørgensen, N. R., Langdahl, B., Hove, H. B., Vedtofte, P., Hindsø, K. & Jensen, J-E. B., Dec 2019, In: Calcified Tissue International. 105, 6, p. 681-686 6 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

Doser, K., Kenborg, L., Andersen, E. W., Bidstrup, P. E., Kroyer, A., Hove, H., Østergaard, J., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Dalton, S. O., Jun 2019, 3 p.

Research output: Other contributionResearch

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

Grímsdóttir, S., Hove, H. B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A. & Hermann, N. V., Jan 2019, In: Clinical Dysmorphology. 28, 1, p. 41-45 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

Luyckx, I., Bolar, N., Diness, B. R., Hove, H. B., Verstraeten, A. & Loeys, B. L., 2019, In: European Journal of Medical Genetics. 62, 2, p. 96-96 1 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

Doser, K., Kenborg, L., Andersen, E. W., Bidstrup, P. E., Kroyer, A., Hove, H., Østergaard, J., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Dalton, S. O., 2019, In: European journal of human genetics : EJHG. 27, 6, p. 857-868 12 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis

Öwall, L., Darvann, T. A., Hove, H. B., Bøgeskov, L., Kreiborg, S. & Hermann, N. V., 2019, In: Cleft Palate-Craniofacial Journal. 56, 7, p. 918-928 11 p.

Research output: Contribution to journalJournal articleResearchpeer-review

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Ferreira, C. R., Xia, Z-J., Clément, A., Parry, D. A., Davids, M., Taylan, F., Sharma, P., Turgeon, C. T., Blanco-Sánchez, B., Ng, B. G., Logan, C. V., Wolfe, L. A., Solomon, B. D., Cho, M. T., Douglas, G., Carvalho, D. R., Bratke, H., Haug, M. G., Phillips, J. B., Wegner, J., Tiemeyer, M., Aoki, K., Nordgren, A., Hammarsjö, A., Duker, A. L., Rohena, L., Hove, H. B., Ek, J., Adams, D., Tifft, C. J., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A. H. S., Brick, L., Kozenko, M., Tham, E., Raymond, K. M., Phillips, J. A., Tiller, G. E., Wilson, W. G., Hamid, R., Malicdan, M. C. V., Nishimura, G., Grigelioniene, G., Jackson, A. & Undiagnosed Diseases Network, 4 Oct 2018, In: American Journal of Human Genetics. 103, 4, p. 553-567 15 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Causes of Mortality in the Marfan Syndrome(from a Nationwide Register Study)

Groth, K. A., Stochholm, K., Hove, H., Andersen, N. H. & Gravholt, C. H., 1 Oct 2018, In: The American journal of cardiology. 122, 7, p. 1231-1235 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

Nyboe, D., Kreiborg, S., Darvann, T., Dunø, M., Nissen, K. R. & Hove, H. B., Jul 2018, In: Clinical Dysmorphology. 27, 3, p. 71-77 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders

Jensen, J. K., Nygaard, R. H., Svensson, R. B., Hove, H. D., Magnusson, S. P., Kjær, M. & Couppé, C., Jul 2018, In: European Journal of Applied Physiology. 118, 7, p. 1301-1307 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

A complex phenotype in a family with a pathogenic SOX3 missense variant

Jelsig, A. M., Diness, B. R., Kreiborg, S., Main, K. M., Larsen, V. A. & Hove, H., 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-72

Research output: Contribution to journalJournal articleResearchpeer-review

Improvement of Facial Symmetry after Surgery in Children with Unilateral Coronal Synostosis (UCS) Analyzed by Spatially Detailed 3D Quantification.

Öwall, B. L. C., Darvann, T. A., Hove, H. B., Hermann, N. V. & Kreiborg, S., 2018.

Research output: Contribution to conferenceConference abstract for conferenceResearch

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

Jeppesen, B. F., Hove, H. B., Kreiborg, S., Hermann, N. V., Darvann, T. A. & Jørgensen, F. S., Jul 2017, In: AACE clinical case reports. 5, 7, p. 1072-1076 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

En sjælden form for overvægt hos børn og unge

Christensen, S. Ø., Holm, K. & Hove, H. B., 20 Feb 2017, In: Ugeskrift for Laeger. 179, 11, p. 985

Research output: Contribution to journalJournal articleResearchpeer-review

Aortic events in a nationwide Marfan syndrome cohort

Groth, K. A., Stochholm, K., Hove, H., Kyhl, K., Gregersen, P. A., Vejlstrup, N., Østergaard, J. R., Gravholt, C. H. & Andersen, N. H., 2017, In: Clinical research in cardiology : official journal of the German Cardiac Society. 106, p. 105-112

Research output: Contribution to journalJournal articleResearchpeer-review

Spatially detailed 3D quantification of improvement of facial symmetry after surgery in children with Unilateral Coronal Synostosis (UCS).

Öwall, B. L. C., Darvann, T. A., Larsen, P., Hove, H. B., Hermann, N. V. & Kreiborg, S., 2017.

Research output: Contribution to conferenceConference abstract for conferenceResearch

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

Boppudi, S., Bögershausen, N., Hove, H. B., Percin, E. F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P. B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M. R., Heindl, L. M. & Zenker, M., Oct 2016, In: Clinical Genetics. 90, 4, p. 334-42 9 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively

Hove, H. D., Dunø, M., Larsen, P. & Kreiborg, S., Apr 2016, In: Clinical Dysmorphology. 25, 2, p. 86-9 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Facial Asymmetry in Children with Unicoronal Synostosis Who Have Undergone Craniofacial Reconstruction in Infancy

Öwall, B. L. C., Darvann, T. A., Larsen, P., Hove, H. D., Hermann, N. V., Bøgeskov, L. & Kreiborg, S., 2016, In: Cleft Palate - Craniofacial Journal. 53, 4, p. 385-93

Research output: Contribution to journalJournal articleResearchpeer-review

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., Vulto-van Silfhout, A. T., Steehouwer, M., Muzny, D. M., Sutton, V. R., Gibbs, R. A., Lupski, J. R., Brunner, H. G., van Bon, B. W. M., Carvalho, C. M. B. & Baylor-Hopkins Center for Mendelian Genomics, 2 Apr 2015, In: American Journal of Human Genetics. 96, 4, p. 612-22 11 p.

Research output: Contribution to journalJournal articleResearchpeer-review

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A. H., Veenstra-Knol, H. E., Herkert, J. C., Lund, A. M., Hennekam, R. C. M., Mégarbané, A., Lees, M. M., Wilson, L. C., Male, A., Hurst, J., Alanay, Y., Annerén, G., Betz, R. C., Bongers, E. M. H. F., Cormier-Daire, V., Dieux, A., David, A., Elting, M. W., van den Ende, J., Green, A., van Hagen, J. M., Hertel, N. T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H. D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E. M., Tobias, E. S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N. V., Coucke, P. & Mortier, G. R., Mar 2015, In: American Journal of Medical Genetics. Part A. 167, 3, p. 461-75 15 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Familial craniosynostosis associated with a microdeletion involving the NFIA gene

Nyboe, D., Kreiborg, S., Kirchhoff, E. M. & Hove, H. B., 24 Feb 2015, In: Clinical Dysmorphology. 24, 3, p. 109-12

Research output: Contribution to journalJournal articleResearchpeer-review

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Groth, K., Hove, H., Kyhl, K., Folkestad, L., Gaustadnes, M., Vejlstrup, N., Stochholm, K., Østergaard, J. R., Andersen, N. & Gravholt, C. H., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 153

Research output: Contribution to journalJournal articleResearchpeer-review

Using CT to validate measurement of facial asymmetry in surface scans of infants with unilateral coronal synostosis.

Darvann, T. A., Öwall, B. L. C., Hermann, N. V., Larsen, P., Hove, H. B. & Kreiborg, S., 2015.

Research output: Contribution to conferenceConference abstract for conferenceResearch

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

Marcos, S., Sarfati, J., Leroy, C., Fouveaut, C., Parent, P., Metz, C., Wolczynski, S., Gérard, M., Bieth, E., Kurtz, F., Verier-Mine, O., Perrin, L., Archambeaud, F., Cabrol, S., Rodien, P., Hove, H., Prescott, T., Lacombe, D., Christin-Maitre, S., Touraine, P., Hieronimus, S., Dewailly, D., Young, J., Pugeat, M., Hardelin, J-P. & Dodé, C., Oct 2014, In: The Journal of clinical endocrinology and metabolism. 99, 10, p. E2138-43

Research output: Contribution to journalJournal articleResearchpeer-review

Facial Asymmetry in Children with Unicoronal Synostosis Who Have Undergone Craniofacial Reconstruction in Infancy.

Öwall, B. L. C., Darvann, T. A., Larsen, P., Hove, H. B., Hermann, N. V., Bøgeskov, L. & Kreiborg, S., 2014.

Research output: Contribution to conferenceConference abstract for conferenceResearch

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

Avila, M., Kirchhoff, E. M., Marle, N., Hove, H. D., Chouchane, M., Thauvin-Robinet, C., Masurel, A., Mosca-Boidron, A-L., Callier, P., Mugneret, F., Kjaergaard, S. & Faivre, L., Jul 2013, In: American Journal of Medical Genetics. Part A. 161A, 7, p. 1594-8 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

The cardiac phenotype in patients with a CHD7 mutation

Corsten-Janssen, N., Kerstjens-Frederikse, W. S., du Marchie Sarvaas, G. J., Baardman, M. E., Bakker, M. K., Bergman, J. E. H., Hove, H. D., Heimdal, K. R., Rustad, C. F., Hennekam, R. C. M., Hofstra, R. M. W., Hoefsloot, L. H., Van Ravenswaaij-Arts, C. M. A. & Kapusta, L., Jun 2013, In: Circulation. Cardiovascular genetics. 6, 3, p. 248-54 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Børn med hypermobilitet

Juul-Kristensen, B., Hove, H. D. & Remvig, L., 18 Mar 2013, Pædiatrisk Fysioterapi. Harboe, H. & Stegger, H. (eds.). 1. ed. Akademisk Forlag, p. 205-222

Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

Bisschoff, I. J., Zeschnigk, C., Horn, D., Wellek, B., Rieß, A., Wessels, M., Willems, P., Jensen, P., Busche, A., Bekkebraten, J., Chopra, M., Hove, H. D., Evers, A. C. W., Heimdal, K., Kaiser, A-S., Kunstmann, E., Robinson, K. L., Linné, M., Martin, P., McGrath, J., Pradel, W., Prescott, K. E., Roesler, B., Rudolf, G., Siebers-Renelt, U., Tyshchenko, N., Wieczorek, D., Wolff, G., Dobyns, W. B. & Morris-Rosendahl, D. J., Jan 2013, In: Human Mutation. 34, 1, p. 237-47 11 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption

Risom, L., Christoffersen, L., Daugaard-Jensen, J., Hove, H. D., Andersen, H. S., Andresen, B. S., Kreiborg, S. & Duno, M., 2013, In: P L o S One. 8, 9, p. e74601

Research output: Contribution to journalJournal articleResearchpeer-review

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

Holman, S., Morgan, T., Baujat, G., Cormier-Daire, V., Cho, T-J., Lees, M., Samanich, J., Tapon, D., Hove, H. B., Hing, A., Hennekam, R. & Robertson, S., 2013, In: Clinical Genetics. 83, 3, p. 251-256

Research output: Contribution to journalJournal articleResearchpeer-review

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

Husu, E., Hove, H. B., Farholt, S., Bille, M., Tranebjaerg, L., Vogel, I. & Kreiborg, S., 2013, In: Clinical Genetics. 83, 2, p. 125-134 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings

Nørgaard, P., Hagen, C. P., Hove, H., Dunø, M., Nissen, K. R., Kreiborg, S. & Jørgensen, F. S., 2012, In: Acta Radiologica Short Reports. 1, 4

Research output: Contribution to journalJournal articleResearchpeer-review

Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings

nørgaard, P., Hagen, C., Hove, H. B., Dunø, M., Nissen, K., Kreiborg, S. & Jørgensen, F. S., 2012, In: Acta Radiologica Short Reports. 1, 4, p. 15-18 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

Zeesman, S., Kjaergaard, S., Hove, H. B., Kirchhoff, E. M., Stevens, J. M. & Nowaczyk, M. J. M., 2012, In: American Journal of Medical Genetics. Part A. 158A, 8, p. 1832-6 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Plexiform neurofibroma of the eye region occurring in patients without neurofibromatosis type 1

Bechtold, D., Hove, H. B., Prause, J. U., Heegaard, S. & Toft, P. B., 2012, In: Ophthalmic Plastic and Reconstructive Surgery. 28, 6, p. 413-5 3 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Hastings, R., Cobben, J-M., Gillessen-Kaesbach, G., Goodship, J., Hove, H. B., Kjærgaard, S., Kemp, H., Kingston, H., Lunt, P., Mansour, S., McGowan, R., Metcalfe, K., Murdoch-Davis, C., Ray, M., Rio, M., Smithson, S., Tolmie, J., Turnpenny, P., van Bon, B., Wieczorek, D. & Newbury-Ecob, R., 2011, In: European Journal of Human Genetics. 19, 5, p. 513-9 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

Saadi, I., Alkuraya, F. S., Gisselbrecht, S. S., Goessling, W., Cavallesco, R., Turbe-Doan, A., Petrin, A. L., Harris, J., Siddiqui, U., Grix, A. W., Hove, H. B., Leboulch, P., Glover, T. W., Morton, C. C., Richieri-Costa, A., Murray, J. C., Erickson, R. P. & Maas, R. L., 2011, In: American Journal of Human Genetics. 89, 1, p. 44-55 12 p.

Research output: Contribution to journalJournal articleResearchpeer-review

RUNX2 analysis of Danish cleidocranial dysplasia families

Hansen, L., Riis, A. K., Silahtaroglu, A., Hove, H. B., Lauridsen, E., Eiberg, H. R. L. & Kreiborg, S., 2011, In: Clinical Genetics. 79, 3, p. 254-63 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

Remvig, L., Duhn, P., Ullman, S., Arokoski, J., Jurvelin, J., Safi, A., Jensen, F., Farholt, S., Hove, H. & Juul-Kristensen, B., 1 Nov 2010, In: Scandinavian Journal of Rheumatology. 39, 6, p. 511-7 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Prenatal 3D ultrasound diagnostics in cleidocranial dysplasia

Hermann, N. V., Hove, H. D., Jørgensen, C., Larsen, P., Darvann, T. A., Kreiborg, S. & Sundberg, K., 2009, In: Fetal Diagnosis and Therapy. 25, 1, p. 36-9 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

Kiholm Lund, A-B., Hove, H. D. & Kirchhoff, M., 30 Aug 2008, In: European Journal of Medical Genetics. 51, 6, p. 520-6 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities

Hove, H. D., Bisgaard, A-M., Nissen, K. R. & Kirchhoff, M., Apr 2008, In: Clinical Dysmorphology. 17, 2, p. 121-2 2 p.

Research output: Contribution to journalJournal articleResearchpeer-review

An echo-poor spine at 13 weeks: an early sign of cleidocranial dysplasia

Hove, H. D., Hermann, N. V., Jørgensen, C., Kreiborg, S. & Sundberg, K., 2008, In: Fetal Diagnosis and Therapy. 24, 2, p. 103-5 3 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Craniofacial morphology in Muenke syndrome

Keller, M. K., Hermann, N. V., Darvann, T. A., Larsen, P., Hove, H. D., Christensen, L., Schwartz, M., Marsh, J. L. & Kreiborg, S., Mar 2007, In: The Journal of craniofacial surgery. 18, 2, p. 374-86 13 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

Rendtorff, N. D., Bjerregaard, B., Frödin, M., Kjaergaard, S., Hove, H., Skovby, F., Brøndum-Nielsen, K., Schwartz, M. & Danish Tuberous Sclerosis Group, Oct 2005, In: Human Mutation. 26, 4, p. 374-83 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Svaer obstruktiv søvnapnø hos et barn med kraniofacial anomali

Qvist, J., Hove, H. D., Welling, K-L. K. & Kreiborg, S., 16 Aug 2004, In: Ugeskrift for Laeger. 166, 34, p. 2910-2 3 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Livstruende subgaleal blødning hos nyfødt

Dahl, K. W., Hove, H. D. & Albertsen, P., 18 Nov 2002, In: Ugeskrift for Laeger. 164, 47, p. 5525-6 2 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Lactic acid bacteria and the human gastrointestinal tract

Hove, H., Nørgaard, H. & Mortensen, P. B., May 1999, In: European Journal of Clinical Nutrition. 53, 5, p. 339-50 12 p.

Research output: Contribution to journalReviewpeer-review

Colonic production of butyrate in patients with previous colonic cancer during long-term treatment with dietary fibre (Plantago ovata seeds)

Nordgaard, I., Hove, H., Clausen, M. R. & Mortensen, P. B., Oct 1996, In: Scandinavian Journal of Gastroenterology. 31, 10, p. 1011-20 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Antibiotic-associated diarrhoea, Clostridium difficile, and short-chain fatty acids

Hove, H., Tvede, M. & Mortensen, P. B., Jul 1996, In: Scandinavian Journal of Gastroenterology. 31, 7, p. 688-93 6 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Short-chain fatty acids in the non-adapted and adapted pelvic ileal pouch

Hove, H. & Mortensen, P. B., Jun 1996, In: Scandinavian Journal of Gastroenterology. 31, 6, p. 568-74 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Stimulation of butyrate absorption in the human rectum in vivo

Holtug, K., Hove, H. & Mortensen, P. B., Oct 1995, In: Scandinavian Journal of Gastroenterology. 30, 10, p. 982-8 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Influence of intestinal inflammation (IBD) and small and large bowel length on fecal short-chain fatty acids and lactate

Hove, H. & Mortensen, P. B., Jun 1995, In: American Journal of Digestive Diseases. 40, 6, p. 1372-80 9 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Butyrate absorption and lactate secretion in ulcerative colitis

Hove, H., Holtug, K., Jeppesen, P. B. & Mortensen, P. B., May 1995, In: Diseases of the Colon and Rectum. 38, 5, p. 519-25 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Colonic lactate metabolism and D-lactic acidosis

Hove, H. & Mortensen, P. B., Feb 1995, In: American Journal of Digestive Diseases. 40, 2, p. 320-30 11 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Faecal DL-lactate concentration in 100 gastrointestinal patients

Hove, H., Nordgaard-Andersen, I. & Mortensen, P. B., Mar 1994, In: Scandinavian Journal of Gastroenterology. 29, 3, p. 255-9 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Effect of lactic acid bacteria on the intestinal production of lactate and short-chain fatty acids, and the absorption of lactose

Hove, H., Nordgaard-Andersen, I. & Mortensen, P. B., Jan 1994, In: The American journal of clinical nutrition. 59, 1, p. 74-9 6 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Colonic fermentation of ispaghula, wheat bran, glucose, and albumin to short-chain fatty acids and ammonia evaluated in vitro in 50 subjects

Mortensen, P. B., Clausen, M. R., Bonnén, H., Hove, H. & Holtug, K., 1 Sep 1992, In: Journal of Parenteral and Enteral Nutrition. 16, 5, p. 433-9 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

The colon in carbohydrate malabsorption: short-chain fatty acids, pH, and osmotic diarrhoea

Holtug, K., Clausen, M. R., Hove, H., Christiansen, J. & Mortensen, P. B., Jul 1992, In: Scandinavian Journal of Gastroenterology. 27, 7, p. 545-52 8 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Fermentation to short-chain fatty acids and lactate in human faecal batch cultures. Intra- and inter-individual variations versus variations caused by changes in fermented saccharides

Mortensen, P. B., Hove, H., Clausen, M. R. & Holtug, K., Dec 1991, In: Scandinavian Journal of Gastroenterology. 26, 12, p. 1285-94 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Activities

Achondroplasia - an up-date

Hanne Buciek Hove (Lecturer)

21 Jan 2019

Prader-Willi syndrom

Hanne Buciek Hove (Lecturer)

6 Apr 2018

Nordic Skeletal Dysplasia Symposium

Hanne Buciek Hove (Organizer)

8 Mar 20189 Mar 2018

Nordic network for Rare Disease (External organisation)

Hanne Buciek Hove (Member)

20172019

4th Nordic Conference on Rare Diseases.

Hanne Buciek Hove (Lecturer)

Sep 2016

National Strategie for Sjældne Sygdomme

Hanne Buciek Hove (Consultant)

20122014

ID: 50611132