Kirstine Ravn

Kirstine Ravn

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Kirstine Ravn

Kirstine Ravn

Publications by authors named "Kirstine Ravn"

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De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.

BMC Med Genet 2018 10 11;19(1):184. Epub 2018 Oct 11.

Gillberg Neuropsychiatric Centre, Sahlgrenska University of Gothenburg, Kungsgatan 12, 41119, Gothenburg, Sweden.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0700-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180591PMC
October 2018

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.

Scand J Clin Lab Invest 2017 Dec 16;77(8):617-621. Epub 2017 Oct 16.

g Medical Endocrinology , Rigshospitalet, Copenhagen University , Denmark.

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http://dx.doi.org/10.1080/00365513.2017.1390782DOI Listing
December 2017

Hearing impairment and renal failure associated with RMND1 mutations.

Am J Med Genet A 2016 Jan 23;170A(1):142-7. Epub 2015 Sep 23.

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

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http://dx.doi.org/10.1002/ajmg.a.37399DOI Listing
January 2016

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

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

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.

JIMD Rep 2016 25;25:65-70. Epub 2015 Jun 25.

Department of Neurology, Copenhagen Neuromuscular Center, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059218PMC
http://dx.doi.org/10.1007/8904_2015_459DOI Listing
June 2015

[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

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Mol Genet Metab Rep 2015 Jun 20;3:5-10. Epub 2015 Feb 20.

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

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http://dx.doi.org/10.1016/j.ymgmr.2015.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750589PMC
June 2015

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

J Med Genet 2015 Mar 20;52(3):203-7. Epub 2015 Jan 20.

Department of Neurology and Neuromuscular Research Unit, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102914
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http://dx.doi.org/10.1136/jmedgenet-2014-102914DOI Listing
March 2015

Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis.

Pediatr Res 2014 Apr 27;75(4):551-8. Epub 2013 Dec 27.

Department of Endocrinology, Copenhagen University Hospital, Hvidovre Hospital, Hvidovre, Denmark.

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http://www.nature.com/articles/pr2013252
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http://dx.doi.org/10.1038/pr.2013.252DOI Listing
April 2014

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.

Am J Med Genet A 2013 Sep 25;161A(9):2358-62. Epub 2013 Jul 25.

Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.36099DOI Listing
September 2013

DXA measurements in Rett syndrome reveal small bones with low bone mass.

J Bone Miner Res 2011 Sep;26(9):2280-6

Center for Rett Syndrome, Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1002/jbmr.423DOI Listing
September 2011

Three new loci for determining x chromosome inactivation patterns.

J Mol Diagn 2011 Sep 2;13(5):537-40. Epub 2011 Jul 2.

Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1016/j.jmoldx.2011.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157618PMC
September 2011

Patients with Rett syndrome sustain low-energy fractures.

Pediatr Res 2011 Apr;69(4):359-64

Center for Rett Syndrome, Kennedy Center, Glostrup 2600, Denmark.

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http://dx.doi.org/10.1203/PDR.0b013e31820bc6d3DOI Listing
April 2011

Large genomic rearrangements in MECP2.

Hum Mutat 2005 Mar;25(3):324

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

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http://dx.doi.org/10.1002/humu.9320DOI Listing
March 2005