Hanne Hove

Hanne Hove

UNVERIFIED PROFILE

Are you Hanne Hove?   Register this Author

Register author
Hanne Hove

Hanne Hove

Publications by authors named "Hanne Hove"

Are you Hanne Hove?   Register this Author

43Publications

1152Reads

45Profile Views

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

Eur J Med Genet 2020 Feb 11;63(2):103650. Epub 2019 Apr 11.

Department of Clinical Genetics, Aarhus University Hospital, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Denmark.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183082
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2019.04.007DOI Listing
February 2020

Phenotypic variability in Muenke syndrome-observations from five Danish families.

Clin Dysmorphol 2020 Jan;29(1):1-9

Centre for Rare Diseases, Department of Paediatrics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000300DOI Listing
January 2020

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

Calcif Tissue Int 2019 Dec 5;105(6):681-686. Epub 2019 Sep 5.

Department of Endocrinology, Hvidovre University Hospital Copenhagen, Kettegård Alle 30, 2650, Hvidovre, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-019-00605-1DOI Listing
December 2019

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

Cleft Palate Craniofac J 2019 Aug 7;56(7):918-928. Epub 2019 Jan 7.

1 3D Craniofacial Image Research Laboratory (School of Dentistry, University of Copenhagen; Centre of Head and Orthopedics, Copenhagen University Hospital Rigshospitalet; and Department of Applied Mathematics and Computer Science, Technical University of Denmark), Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665618821821DOI Listing
August 2019

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

Eur J Med Genet 2019 02 12;62(2):96. Epub 2018 Jun 12.

Cardiogenetics, Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.06.008DOI Listing
February 2019

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

Clin Dysmorphol 2019 Jan;28(1):41-45

3D Craniofacial Image Research Laboratory, School of Dentistry.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000244DOI Listing
January 2019

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

Am J Cardiol 2018 10 21;122(7):1231-1235. Epub 2018 Jul 21.

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus,Denmark.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029149183132
Publisher Site
http://dx.doi.org/10.1016/j.amjcard.2018.06.034DOI Listing
October 2018

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

Eur J Appl Physiol 2018 Jul 5;118(7):1301-1307. Epub 2018 Apr 5.

Institute of Sports Medicine, Department of Orthopaedic Surgery M, Bispebjerg Hospital and Center for Healthy Aging, Faculty of Health and Medical Sciences, University of Copenhagen, Bispebjerg Bakke 23, 2400, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00421-018-3862-7DOI Listing
July 2018

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

Eur J Med Genet 2018 Mar 24;61(3):168-172. Epub 2017 Nov 24.

Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.11.012DOI Listing
March 2018

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

Clin Case Rep 2017 07 16;5(7):1072-1076. Epub 2017 May 16.

Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494388PMC
July 2017

Aortic events in a nationwide Marfan syndrome cohort.

Clin Res Cardiol 2017 Feb 22;106(2):105-112. Epub 2016 Aug 22.

Department of Cardiology, Aarhus University Hospital, 8200, Aarhus N, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00392-016-1028-3DOI Listing
February 2017

[A rare type of severe obesity in children and adolescents].

Ugeskr Laeger 2017 Feb;179(8)

View Article

Download full-text PDF

Source
February 2017

Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively.

Clin Dysmorphol 2016 Apr;25(2):86-9

aDepartment of Clinical Genetics bThe RAREDIS Database, Centre for Rare Diseases, Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet c3D Craniofacial Image Research Laboratory (School of Dentistry, University of Copenhagen; Copenhagen University Hospital - Rigshospitalet; and DTU Compute, Technical University of Denmark) dDepartment of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000112DOI Listing
April 2016

Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

Orphanet J Rare Dis 2015 Dec 2;10:153. Epub 2015 Dec 2.

Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0369-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668669PMC
December 2015

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Am J Med Genet A 2015 Nov 24;167A(11):2731-6. Epub 2015 Jun 24.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37227DOI Listing
November 2015

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Clin Dysmorphol 2015 Jul;24(3):109-12

aDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet bDepartment of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences c3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet, University of Copenhagen dDepartment of Clinical Genetics, The RAREDIS Database, Section of Rare Diseases, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000079DOI Listing
July 2015

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

J Clin Endocrinol Metab 2014 Oct 31;99(10):E2138-43. Epub 2014 Jul 31.

EA7331 Faculté des Sciences Pharmaceutiques (S.M., C.D.), 75006 Paris, France; Laboratoire de Biologie et Génétique Moléculaires (J.S., C.L., C.F., C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service de Pédiatrie et de Génétique Médicale (P.P., C.M.), Centre Hospitalier Universitaire Morvan, 29200 Brest, France; Department of Reproduction and Gynecological Endocrinology (S.W.), PL-15-1276 Bialystok, Poland; Service de Génétique (M.G.), Centre Hospitalier Régional Clémenceau, 14033 Caen, France; Service de Génétique Médicale (E.B.), Hôpital Purpan, 31059 Toulouse, France; Service de Pédiatrie (F.K.), Hôpital Bel Air, 57126 Thionville, France; Service d'Edocrinologie (O.V.-M.), Centre Hospitalier, 59322 Valenciennes, France; UF de Génétique Clinique (L.P.), Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Service de Médecine et d'Endocrinologie (F.A.), Hôpital du Cluzeau, 87042 Limoges, France; Service d'Endocrinologie (S.C.), Hôpital Trousseau, and Service d'Endocrinologie (S.C.-M.), Hôpital St Antoine, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France; Service d'Endocrinologie (P.R.), Centre Hospitalier, 49933 Angers, France; Department of Clinical Genetics (H.H.), University Hospital, DK-1165 Copenhagen, Denmark; Department of Medical Genetics (T.P.), Hospital HF Rikshospital, 0424 Oslo, Norway; Service de Génétique Médicale (D.L.), Hôpital Pellegrin, 33076 Bordeaux, France; Service d'Endocrinologie (P.T.), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France; Service d'Endocrinologie (S.H.), Hôpital l'Archet, 06003 Nice, France; Service de Gynécologie Endocrinienne (D.D.), Hôpital Jeanne de Flandre, 59037 Lille, France; Service d'Endocrinologie (J.Y.), Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, 94275 Le Kremlin-Bicêtre, France; and Service d'Endocrinologie (M.P.), Hôpital Neurologiqu

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-2110DOI Listing
October 2014

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

Acta Radiol Short Rep 2012 17;1(4). Epub 2012 May 17.

Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hvidovre Hospital, University of Copenhagen.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1258/arsr.2012.110017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738349PMC
August 2013

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

Ophthalmic Plast Reconstr Surg 2012 Nov-Dec;28(6):413-5

Department of Ophthalmology, Odense University Hospital and Svendborg Hospital, Odense, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IOP.0b013e3182627ea1DOI Listing
March 2013

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

Am J Med Genet A 2012 Aug 29;158A(8):1832-6. Epub 2012 Jun 29.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.35508
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35508DOI Listing
August 2012

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

Eur J Med Genet 2008 Nov-Dec;51(6):520-6. Epub 2008 Aug 7.

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.07.008DOI Listing
March 2009

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

Clin Dysmorphol 2008 Apr;17(2):121-2

Department of Clinical Genetics and Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e3280fa834eDOI Listing
April 2008

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

Eur J Med Genet 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2007.03.004DOI Listing
September 2007

Craniofacial morphology in Muenke syndrome.

J Craniofac Surg 2007 Mar;18(2):374-86

Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, 3D Laboratory, Faculty of Health Sciences, University of Copenhagen, and the Department of Clinical Genetics, The Juliane Marie Centre, Copenhagen University Hospital, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/scs.0b013e31803ffa63DOI Listing
March 2007

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 Nov 18;115(6):459-67. Epub 2004 Sep 18.

Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-004-1174-y
Publisher Site
http://dx.doi.org/10.1007/s00439-004-1174-yDOI Listing
November 2004

[Severe obstructive sleep apnea in a child with craniofacial anomaly].

Ugeskr Laeger 2004 Aug;166(34):2910-2

H:S Rigshospitalet, Neurocentret, Respirationscenter Ost, København.

View Article

Download full-text PDF

Source
August 2004

[Life-threatening subgaleal bleeding in a newborn infant].

Ugeskr Laeger 2002 Nov;164(47):5525-6

Hillerød Sygehus, børneafdeling H.

View Article

Download full-text PDF

Source
November 2002