Publications by authors named "Karen Brondum-Nielsen"

91Publications

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Stem Cell Res 2019 12 4;41:101594. Epub 2019 Nov 4.

Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101594DOI Listing
December 2019

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.

Eur J Med Genet 2020 Jan 21;63(1):103632. Epub 2019 Feb 21.

Odense Pancreas Center (OPAC), Odense University Hospital, Odense, Denmark; Institute of Clinical Research, University of Southern Denmark Odense, Odense, Denmark; Dept. of Pathology, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2019.02.004DOI Listing
January 2020

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.

Stem Cell Res 2018 12 20;33:46-50. Epub 2018 Sep 20.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183023
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http://dx.doi.org/10.1016/j.scr.2018.09.013DOI Listing
December 2018

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Stem Cell Res 2018 08 10;31:235-239. Epub 2018 Aug 10.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.08.005DOI Listing
August 2018

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Am J Hum Genet 2018 06 24;102(6):1090-1103. Epub 2018 May 24.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120PMC
June 2018

Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples.

Prenat Diagn 2016 Jan 13;36(1):100-3. Epub 2015 Dec 13.

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

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http://dx.doi.org/10.1002/pd.4752DOI Listing
January 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

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

A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD.

Psychiatry Res 2015 Feb 30;225(3):268-75. Epub 2014 Dec 30.

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

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https://linkinghub.elsevier.com/retrieve/pii/S01651781140102
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http://dx.doi.org/10.1016/j.psychres.2014.12.028DOI Listing
February 2015

[Presymptomatic genetic testing in minors should only be performed when intervention is possible].

Ugeskr Laeger 2014 Dec;176(52)

Klinisk Genetisk Klinik, Kennedy -Centret, Gamle Landevej 7, 2600 Glostrup.

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December 2014

[The genome in terms of audiology and ophthalmology].

Ugeskr Laeger 2014 Nov;176(46)

Kennedy Centret, Gl. Landevej 7, 2600 Glostrup.

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November 2014

[From intellectual disability to new treatment modalities of fragile X syndrome].

Ugeskr Laeger 2014 Feb;176(9A):V06130350

Center for fragilt X, Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup.

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February 2014

[Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders].

Ugeskr Laeger 2014 Jun;176(26):V02140099

Klinisk Genetisk Klinik, Kennedy Centret, Juliane Marie Centret, Gl. Landevej 7, 2600 Glostrup. E-mail:

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June 2014

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

Clinical utility gene card for: Oculocutaneous albinism.

Eur J Hum Genet 2014 Aug 12;22(8). Epub 2014 Feb 12.

Department of Ophthalmology, Justus-Liebig University, Giessen, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350605PMC
August 2014

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

[Genetic testing and counselling in inherited eye disease].

Ugeskr Laeger 2013 Sep;175(36):2031-4

Klinikken Kennedy Centret, Gl. Landevej 7, Glostrup.

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September 2013

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

Neurogenetics 2013 Nov 29;14(3-4):197-203. Epub 2013 Aug 29.

Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600, Denmark.

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http://dx.doi.org/10.1007/s10048-013-0372-yDOI Listing
November 2013

Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis.

Am J Med Genet A 2013 Sep 2;161A(9):2197-203. Epub 2013 Aug 2.

Department of Pediatrics, Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.36058
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http://dx.doi.org/10.1002/ajmg.a.36058DOI Listing
September 2013

Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.

Am J Med Genet B Neuropsychiatr Genet 2013 Dec 27;162B(8):825-31. Epub 2013 Jul 27.

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

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http://dx.doi.org/10.1002/ajmg.b.32186DOI Listing
December 2013

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

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

Front Genet 2013 16;4:54. Epub 2013 Apr 16.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark ; Section for Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark.

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http://dx.doi.org/10.3389/fgene.2013.00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627139PMC
April 2013

Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus.

Am J Med Genet A 2012 Sep 27;158A(9):2302-8. Epub 2012 Jul 27.

Kennedy Center, Genetic Counseling Clinic, Glostrup, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.35505
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http://dx.doi.org/10.1002/ajmg.a.35505DOI Listing
September 2012

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.

Eur J Hum Genet 2012 Dec 23;20(12):1315-9. Epub 2012 May 23.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Faculty of Health Sciences, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/ejhg.2012.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499750PMC
December 2012

[The genetics of Gilles de la Tourette syndrome].

Ugeskr Laeger 2012 Feb;174(8):484-7

Center for Anvendt Human Molekylærgenetik, Kennedy Centret, Gl. Landevej 7, 2600 Glostrup, Denmark.

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February 2012

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Eur J Hum Genet 2012 Jan 24;20(1):119-21. Epub 2011 Aug 24.

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

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http://dx.doi.org/10.1038/ejhg.2011.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234508PMC
January 2012

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.

Neurobiol Aging 2012 Jan 26;33(1):208.e1-5. Epub 2011 Aug 26.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.07.001DOI Listing
January 2012

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

[Increased nuchal translucency in osteogenesis imperfecta].

Ugeskr Laeger 2011 Mar;173(13):973-4

Kennedy Centret, Genetisk Rådgivningsklinik, Gl. Landevej 6, 2600 Glostrup, Denmark.

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March 2011

A nonsense mutation in FMR1 causing fragile X syndrome.

Eur J Hum Genet 2011 Apr 26;19(4):489-91. Epub 2011 Jan 26.

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

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http://dx.doi.org/10.1038/ejhg.2010.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060329PMC
April 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

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

Normal RNAi response in human fragile x fibroblasts.

BMC Res Notes 2009 Sep 9;2:177. Epub 2009 Sep 9.

The Kennedy Center, Gl, Landevej 7, 2600 Glostrup, Denmark.

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http://dx.doi.org/10.1186/1756-0500-2-177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2746233PMC
September 2009

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

[Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome].

Ugeskr Laeger 2008 Mar;170(14):1152-6

Kennedy Centret, Glostrup Hospital, Gynaekologisk-obstetrisk Afdeling, Glostrup.

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March 2008

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

Eur J Hum Genet 2008 Apr 16;16(4):453-61. Epub 2008 Jan 16.

Genetic Counselling Clinic, Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201993DOI Listing
April 2008

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Eur J Hum Genet 2008 Mar 9;16(3):312-9. Epub 2008 Jan 9.

Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201985DOI Listing
March 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

Risk for cancer in patients with Bardet-Biedl syndrome and their relatives.

Am J Med Genet A 2007 Aug;143A(15):1699-702

Kennedy Institute-National Eye Clinic, Glostrup/Hellerup, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.31805
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http://dx.doi.org/10.1002/ajmg.a.31805DOI Listing
August 2007

Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers.

Genet Med 2007 Mar;9(3):185-7

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1097/gim.0b013e3180314671DOI Listing
March 2007

[Gene therapy. The Danish Society of Medical Genetics].

Ugeskr Laeger 2007 Mar;169(12):1119

Kennedy Instituttet-Statens Øjenklinik, Gl. Landevej 7, DK-2600 Glostrup.

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March 2007

A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.

Clin Chem 2007 Apr 26;53(4):790-3. Epub 2007 Jan 26.

Institute of Cancer Biology, Danish Cancer Society, Copenhagen, Denmark.

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http://dx.doi.org/10.1373/clinchem.2006.080762DOI Listing
April 2007

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?

Am J Med Genet A 2006 Dec;140(24):2709-13

Department of Pediatric Ophthalmology and Handicap, Copenhagen University Hospital, Glostrup, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.31543
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http://dx.doi.org/10.1002/ajmg.a.31543DOI Listing
December 2006

[Fragile X chromosomes and fragile X syndrome].

Ugeskr Laeger 2006 Oct;168(43):3727-8

Kennedy Instituttet-Statens Øjenklinik, Glostrup.

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October 2006

[Screening for fragile X syndrome. International experiences].

Ugeskr Laeger 2006 Oct;168(43):3704-9

Statens Serum Institut, Klinisk Biokemisk Afdeling, Københavns Universitet, Wilhelm Johannsen Center for Funktionel Genomforskning, København S.

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October 2006

[Press, ethics and genetic screening].

Ugeskr Laeger 2006 Oct;168(40):3448; author reply 3448

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October 2006

[Genetic counselling in monogenic cancer syndromes].

Ugeskr Laeger 2006 Jun;168(24):2350-4

Kennedy Instituttet--Statens Øjenklinik, Gl. Landevej 7, DK-2600 Glostrup.

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June 2006

[Genetic epidemiology and cancer].

Ugeskr Laeger 2006 Jun;168(24):2344-8

Kraeftens Bekaempelse, Institut for Epidemiologisk Kraeftforskning, DK-2100 København Ø.

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June 2006

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases.

Eur J Hum Genet 2006 Apr;14(4):410-7

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201592DOI Listing
April 2006

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].

Ugeskr Laeger 2005 May;167(22):2394-8

John F. Kennedy Instituttet--Statens Ojenklinik, Glostrup.

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May 2005

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

Genet Test 2004 ;8(2):181-4

Department of Medical Genetics, John F. Kennedy Institute, DK-2600 Glostrup, Denmark.

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http://dx.doi.org/10.1089/gte.2004.8.181DOI Listing
February 2005

Screening of the ARX gene in 682 retarded males.

Eur J Hum Genet 2004 Sep;12(9):701-5

Medical Genetics Laboratory, John F Kennedy Institute, Glostrup DK-2600, Denmark.

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http://www.nature.com/articles/5201222
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http://dx.doi.org/10.1038/sj.ejhg.5201222DOI Listing
September 2004

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.

Eur J Hum Genet 2004 Jun;12(6):447-54

Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, CMM L8:02, Stockholm SE-17176, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201175DOI Listing
June 2004

Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.

Am J Med Genet A 2004 Jan;124A(1):74-8

Department of Medical Genetics, The John F. Kennedy Institute, Gl. Landevej 7, DK-2600 Glostrup, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.20380DOI Listing
January 2004

[Marriages between cousins].

Ugeskr Laeger 2003 Apr;165(18):1849

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April 2003

[Genetic counseling and genetic services].

Ugeskr Laeger 2003 Feb;165(8):777-9

John F. Kennedy Instituttet, Gl. Landevej 7, DK-2600 Glostrup.

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February 2003

[Mitochondrial diseases. Clinical features, investigation and genetics].

Ugeskr Laeger 2003 Feb;165(7):663-8

John F. Kennedy Instituttet, Gl. Landevej 7, DK-2600 Glostrup.

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February 2003

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

BMC Genet 2002 Apr 19;3. Epub 2002 Apr 19.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC107843PMC
http://dx.doi.org/10.1186/1471-2156-3-5DOI Listing
April 2002