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Publications

Scientific Articles, Media, Meetings & Abstracts

List of Publications

List of Publications

Articles  and Abstracts

Duno M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet 2004;115:459-467.

Rendtorff ND, Bjerregaard B, Frodin M, Kjaergaard S, Hove H, Skovby F, Brondum-Nielsen K, Schwartz M, Danish Tuberous Sclerosis Group. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MPLA, and TSC1 long-range PCR sequencing and report of 28 novel mutations. Hum Mutat 2005;26:374-383.

Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F. Transmitted cytogenetic abnormalities in patients with mental retardation: disease-causing or normal genomic variants. Eur J Med Genet. 2007 Jul-Aug;50(4):243-55.

Keller M, Hermann NV, Darvann T, Larsen P, Hove H, Christensen L, Schwartz M, March J, Kreiborg S. Craniofacial morphology in Muenke syndrome. J Craniofac Surg 2007 Mar;18(2):374-86.

Hove H, Hermann NV, Jørgensen C, Kreiborg S, Sundberg K. An echo-poor sine at thirteen weeks – an early sign of cleidocranial dysplasia.  Fetal Diagn Ther. 2008;24(2):103-5. doi: 10.1159/000142137. Epub 2008 Jul 17.

Hermann NV, Hove H, Jørgensen C, Larsen P, Darvann TA, Kreiborg S, Sundberg K. Prenatal 3D ultrasound diagnostics in Cleidocranial Dysplasia. Fetal Diagn Ther. 2009;25(1):36-9. doi: 10.1159/000195634. Epub 2009 Jan 23.

Hove H, Bisgaard AM, Nissen KR, Kirchhoff M. Facial asymmetry associated with small & large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities. Clin Dysmorphol. 2008 Apr;17(2):121-2. doi: 10.1097/MCD.0b013e3280fa834e. No abstract available.

Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. Clin Genet. 2013 Feb;83(2):125-34


Raredis presentations

Database meeting – Rome October 2012 ,  Raredis presented by Ketil Heimdal

Rare Disease Conference – Reykjavik June 2012, http://www.greining.is/media/nordic-conference-2012/nordicconfernce2012linkar.pdf

Databases CrossBorders – Oslo June 2012,   Arbejdsmøte: Hans Petter Aarseth og Ragnar Skjold

Nordisk Database for Rare Diseases at the 34th Congress of the Scandinavian Association of  Plastic Surgeons (13-16.6.2012) last year. Arja Heliovaara.

Ekspertgruppemøde om muligheder og rammer  for etablering af fælles nordiske databaser/registre, Sundhedsstyrelsen (SST) November 2012


Arbejdsgruppen vedr. National strategi for Sjældne Sygdomme – SST November 2012.  Raredis presented by Hanne Hove

 

Media coverage:

 

 

  1.  Hove H. Dagens Medicin. April 2007. Fællesnordisk satsning på database for sjældne sygdomme. Journalist Niels-Bjørn Albinus
  2.  Hove H. Nyhedsavisen. September 2007. En sjælden læge. Journalist Lars Igum Rasmussen.
  3.  Hove H. IndenRigs (Nyhedsavis for Rigshospitalets medarbejdere). December 2007. Styrket  forskning i sjældne sygdomme. Journalist Ulf Joel Jensen.
  4.  Hove H. Hovedsagen, Region Hovedsagens medarbejderavis. Flere penge til forskning i sjældne handicap. Nr. 2; 8. Februar, 2008. Journalist Ulf Joel Jensen.

 

 

Handlinger tilknyttet webside

RAREDIS 2009 Årsrapport

The RAREDIS 2009 year report (available in Danish only)

PDF document icon 20100408_aarsrapport_2009 Mikkel.pdf — PDF document, 1266 kB (1297071 bytes)

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RAREDIS presentation Rome March 2014

Microsoft PowerPoint presentation icon Ketil_ROM_Marts2014 (1).ppt — Microsoft PowerPoint presentation, 931 kB (953344 bytes)

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Årsrapport 2013

PDF document icon Aarsrapport_2013.pdf — PDF document, 1121 kB (1148107 bytes)

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Årsrapport 2016

PDF document icon ÅrsrapportRAREDIS2016.pdf — PDF document, 1065 kB (1091243 bytes)

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Årsrapport 2018

PDF document icon Årsrapport 2018.pdf — PDF document, 1092 kB (1119035 bytes)

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Dokumentalistrapport 2018

PDF document icon Dokumentalistrapport.pdf — PDF document, 834 kB (854200 bytes)

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