Publications by authors named "Anne-Marie Bisgaard"

32Publications

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

Disabil Rehabil 2019 01 2;41(2):133-141. Epub 2017 Oct 2.

a Department of Health Sciences, Faculty of Medicine , Lund University , Lund , Sweden.

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https://www.tandfonline.com/doi/full/10.1080/09638288.2017.1
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http://dx.doi.org/10.1080/09638288.2017.1381181DOI Listing
January 2019

Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome.

J Child Neurol 2017 Oct;32(12):1009-1013

2 School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1177/0883073817728861DOI Listing
October 2017

Building the repertoire of measures of walking in Rett syndrome.

Disabil Rehabil 2017 09 24;39(19):1926-1931. Epub 2016 Aug 24.

a Department of Health Sciences, Faculty of Medicine , Lund University , Lund, Sweden.

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http://dx.doi.org/10.1080/09638288.2016.1212280DOI Listing
September 2017

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

Disabil Rehabil 2017 05 20;39(9):911-918. Epub 2016 May 20.

a Centre for Rett Syndrome, Kennedy Centre, Department of Clinical Genetics, Rigshospitalet , University of Copenhagen , Glostrup , Denmark.

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http://dx.doi.org/10.3109/09638288.2016.1170896DOI Listing
May 2017

Validating the Rett Syndrome Gross Motor Scale.

PLoS One 2016 22;11(1):e0147555. Epub 2016 Jan 22.

Telethon Kids Institute, The University of Western Australia, Perth, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0147555PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723034PMC
July 2016

[Clinical molecular genetics diagnostics of Rett syndrome in Denmark].

Ugeskr Laeger 2015 06;177(27)

Center for Rett syndrom, Gl. Landevej 7, 2600 Glostrup.

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June 2015

Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012.

Eur J Paediatr Neurol 2015 Nov 21;19(6):679-87. Epub 2015 Jul 21.

Department of Paediatrics, Roskilde Hospital, University of Copenhagen, Køgevej 7-13, 4000 Roskilde, Denmark.

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http://dx.doi.org/10.1016/j.ejpn.2015.07.004DOI Listing
November 2015

Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

Gene 2015 Nov 8;572(1):130-134. Epub 2015 Jul 8.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.07.016DOI Listing
November 2015

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

Epilepsia 2015 Apr 19;56(4):569-76. Epub 2015 Mar 19.

Pediatric Neurology Unit and Rett National Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/epi.12941DOI Listing
April 2015

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

Eur J Med Genet 2014 May-Jun;57(6):284-7. Epub 2014 Apr 13.

Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212140006
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http://dx.doi.org/10.1016/j.ejmg.2014.03.009DOI Listing
February 2015

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.

Am J Med Genet A 2013 Jun 30;161A(6):1447-52. Epub 2013 Apr 30.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.35901DOI Listing
June 2013

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.

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

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.

Eur J Med Genet 2007 Jul-Aug;50(4):256-63. Epub 2007 May 18.

Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK-2100 Copenhagen Ø, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2007.05.001DOI Listing
September 2007

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.

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

Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.

Am J Med Genet A 2006 Mar;140(6):644-8

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.31130
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http://dx.doi.org/10.1002/ajmg.a.31130DOI Listing
March 2006

Systemic activity of inhaled steroids in 1- to 3-year-old children with asthma.

Pediatrics 2002 Mar;109(3):E40

Pulmonary Service, Department of Paediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1542/peds.109.3.e40DOI Listing
March 2002