Publications by authors named "Jakob Ek"

30Publications

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Sci Rep 2020 06 18;10(1):9909. Epub 2020 Jun 18.

Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark.

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http://dx.doi.org/10.1038/s41598-020-66588-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303179PMC
June 2020

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

JIMD Rep 2019 Mar 14;46(1):35-45. Epub 2019 Mar 14.

Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.

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http://dx.doi.org/10.1002/jmd2.12007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498822PMC
March 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.

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

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.

Eur J Hum Genet 2018 10 19;26(10):1512-1520. Epub 2018 Jun 19.

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

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http://dx.doi.org/10.1038/s41431-018-0204-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138752PMC
October 2018

A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.

Eur J Hum Genet 2018 09 24;26(9):1388-1391. Epub 2018 May 24.

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

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http://www.nature.com/articles/s41431-018-0184-5
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http://dx.doi.org/10.1038/s41431-018-0184-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117349PMC
September 2018

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome.

Eur J Paediatr Neurol 2015 Nov 29;19(6):719-21. Epub 2015 Jul 29.

Department of Children and Youth, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.07.010DOI Listing
November 2015

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Eur J Hum Genet 2013 Jun 10;21(6):626-9. Epub 2012 Oct 10.

Memory Disorders Research Group, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://www.nature.com/doifinder/10.1038/ejhg.2012.231
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http://dx.doi.org/10.1038/ejhg.2012.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658194PMC
June 2013

Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study.

Invest Ophthalmol Vis Sci 2010 May 10;51(5):2317-21. Epub 2009 Dec 10.

Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.

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http://dx.doi.org/10.1167/iovs.09-4482DOI Listing
May 2010

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Invest Ophthalmol Vis Sci 2009 Mar 5;50(3):1058-64. Epub 2008 Dec 5.

edical Genetics Laboratory Center, Kennedy Center, Glostrup, Denmark.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.08-2639DOI Listing
March 2009

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

Pediatr Diabetes 2008 Aug 5;9(4 Pt 2):367-72. Epub 2008 Mar 5.

Department of Paediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1111/j.1399-5448.2008.00379.xDOI Listing
August 2008

Oculocutaneous albinism.

Orphanet J Rare Dis 2007 Nov 2;2:43. Epub 2007 Nov 2.

Kennedy Center, National Research Center for Genetics, visual Impairment and Mental Retardation, Gl, Landevej 7, 2600 Glostrup, Denmark.

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http://dx.doi.org/10.1186/1750-1172-2-43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211462PMC
November 2007

Association between neuromedin U gene variants and overweight and obesity.

J Clin Endocrinol Metab 2006 Dec 19;91(12):5057-63. Epub 2006 Sep 19.

Department of Pediatrics, Carles University, Czech Republic.

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http://dx.doi.org/10.1210/jc.2006-1442DOI Listing
December 2006

Novel variants in the putative peroxisome proliferator-activated receptor {gamma} promoter and relationships with obesity in men.

Obes Res 2005 Jun;13(6):953-8

Department of Human Nutrition, LMC Royal Veterinary and Agricultural University, Rolighedsvej 30, 1958 Frederiksberg C, Denmark.

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http://dx.doi.org/10.1038/oby.2005.110DOI Listing
June 2005

Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.

J Clin Endocrinol Metab 2005 Jun 29;90(6):3629-37. Epub 2005 Mar 29.

Steno Diabetes Center and Hagedorn Research Institute, Niels Steensens Vej 2, DK-2820 Gentofte, Denmark.

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http://dx.doi.org/10.1210/jc.2004-1942DOI Listing
June 2005

The functional Thr130Ile and Val255Met polymorphisms of the hepatocyte nuclear factor-4alpha (HNF4A): gene associations with type 2 diabetes or altered beta-cell function among Danes.

J Clin Endocrinol Metab 2005 May 22;90(5):3054-9. Epub 2005 Feb 22.

Steno Diabetes Center and Hagedorn Research Institute, Niels Steensens Vej 6, NSK1.14, DK-2820 Gentofte, Denmark.

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http://dx.doi.org/10.1210/jc.2004-2159DOI Listing
May 2005

Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?

Transplantation 2004 Apr;77(8):1298-301

Diabetes Center, Institute for Clinical and Experimental Medicine, Praha, Czech Republic.

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http://dx.doi.org/10.1097/01.tp.0000119721.35506.a7DOI Listing
April 2004