Publications by authors named "Lisbeth Tranebjaerg"

81Publications

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.

Laryngoscope 2019 11;129(11):2574-2579

Department of Otorhinolaryngology, Head and Neck Surgery and Audiology Rigshospitalet/Gentofte, Hellerup.

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http://dx.doi.org/10.1002/lary.27319DOI Listing
November 2019

Functional assessment of variants associated with Wolfram syndrome.

Hum Mol Genet 2019 11;28(22):3815-3824

Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/hmg/ddz212DOI Listing
November 2019

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Eur J Med Genet 2020 Mar 23;63(3):103733. Epub 2019 Aug 23.

The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Institute of Clinical Medicine, The Panum Institute, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2019.103733DOI Listing
March 2020

The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct.

Otol Neurotol 2019 03;40(3):e178-e185

Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Rigshospitalet/Gentofte, Hellerup.

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http://dx.doi.org/10.1097/MAO.0000000000002140DOI Listing
March 2019

Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.

Cochlear Implants Int 2019 03 28;20(2):100-103. Epub 2018 Nov 28.

c Department of Otorhinolaryngology, Head & Neck Surgery and Audiology , Copenhagen University Hospital Rigshospitalet/Gentofte Hospital , København , Denmark.

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https://www.tandfonline.com/doi/full/10.1080/14670100.2018.1
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http://dx.doi.org/10.1080/14670100.2018.1550849DOI Listing
March 2019

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Parkinsonism Relat Disord 2019 04 15;61:245-247. Epub 2018 Oct 15.

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

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http://dx.doi.org/10.1016/j.parkreldis.2018.10.017DOI Listing
April 2019

Adaptive Processes in Hearing.

Trends Hear 2018 Jan-Dec;22:2331216518762261

1 Hearing Systems, Department of Electrical Engineering, Technical University of Denmark, Lyngby, Denmark.

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http://dx.doi.org/10.1177/2331216518762261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858676PMC
March 2019

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Mol Genet Genomic Med 2016 Sep 28;4(5):527-539. Epub 2016 Jun 28.

Applied Human GeneticsKennedy CenterDepartment of Clinical GeneticsCopenhagen UniversityRigshospitaletGlostrupDenmark; Department of Cellular and Molecular MedicineThe Faculty of Health SciencesUniversity of Copenhagen2200CopenhagenDenmark; Department of Science Systems and Models (NSM)Roskilde UniversityDK 4000RoskildeDenmark.

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http://dx.doi.org/10.1002/mgg3.228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023938PMC
September 2016

Individual Hearing Loss: Characterization, Modelling, Compensation Strategies.

Trends Hear 2016 08 26;20. Epub 2016 Aug 26.

Hearing Systems, Department of Electrical Engineering, Technical University of Denmark, Kgs. Lyngby, Denmark.

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http://dx.doi.org/10.1177/2331216516655890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006294PMC
August 2016

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hear Res 2016 09 16;339:60-8. Epub 2016 Jun 16.

Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.06.008DOI Listing
September 2016

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Hum Genet 2016 Mar 2;135(3):345-57. Epub 2016 Feb 2.

Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00439-016-1635-0DOI Listing
March 2016

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Eur J Hum Genet 2015 Dec 25;23(12):1646-51. Epub 2015 Mar 25.

Clinical Genetics Clinic, The Kennedy Center, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2015.54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795208PMC
December 2015

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

Gene 2015 May 11;563(1):10-6. Epub 2015 Feb 11.

Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, DK-2400 Copenhagen NV, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119150015
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http://dx.doi.org/10.1016/j.gene.2015.02.022DOI Listing
May 2015

[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

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Eur J Hum Genet 2015 Jun 24;23(6):729-35. Epub 2014 Sep 24.

1] Institute for Health Economics and Health Care Management, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany [2] Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Clinical Center, Ludwig Maximilians University, Munich, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795066PMC
June 2015

Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure.

J Pediatr 2014 Feb 16;164(2):413-5. Epub 2013 Nov 16.

Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.10.024DOI Listing
February 2014

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Eur J Hum Genet 2013 Jun;21 Suppl 1:S1-5

Section Community Genetics, Department of Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660957PMC
June 2013

Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.

Mitochondrion 2013 Nov 6;13(6):841-5. Epub 2013 Jun 6.

Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.mito.2013.05.013DOI Listing
November 2013

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://doi.wiley.com/10.1007/s10545-012-9579-6
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http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Mov Disord 2012 Jul 26;27(8):1034-40. Epub 2012 Jun 26.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, NSW 2145, Australia.

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http://dx.doi.org/10.1002/mds.25033DOI Listing
July 2012

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Hum Mutat 2012 Aug 11;33(8):1251-60. Epub 2012 May 11.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22106DOI Listing
August 2012

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Hum Mutat 2012 Aug 16;33(8):1149-60. Epub 2012 Apr 16.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22086DOI Listing
August 2012

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.

Int J Audiol 2012 Jun 27;51(6):433-6. Epub 2012 Feb 27.

Department of Otolaryngology, Head & Neck Surgery, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.3109/14992027.2012.660575DOI Listing
June 2012

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.

Hum Mol Genet 2012 Jan 7;21(2):287-99. Epub 2011 Oct 7.

Interfaculty Institute of Biochemistry, University of Tübingen, 72076 Tübingen, Germany.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddr458DOI Listing
January 2012

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

Eur J Med Genet 2012 Jan 23;55(1):37-42. Epub 2011 Sep 23.

Yuzuncu Yil University, School of Medicine, Department of Pediatric Endocrinology, Van, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2011.08.005DOI Listing
January 2012

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

J Mol Diagn 2011 Jul 29;13(4):416-26. Epub 2011 Apr 29.

Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2011.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123795PMC
July 2011

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.

Int J Pediatr Otorhinolaryngol 2011 Jan 5;75(1):89-94. Epub 2010 Nov 5.

Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

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http://dx.doi.org/10.1016/j.ijporl.2010.10.016DOI Listing
January 2011

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.

Pediatr Nephrol 2010 Jul 4;25(7):1343-8. Epub 2010 Feb 4.

Department of Pediatrics, Saiseikai Yahata General Hospital, 5-9-27, Haruno-machi, Yahatahigashi-ku, Kitakyushu, Fukuoka, 805-0050, Japan.

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http://dx.doi.org/10.1007/s00467-010-1445-xDOI Listing
July 2010

Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.

Audiol Neurootol 2010 5;15(4):211-20. Epub 2009 Nov 5.

Department of Otorhinolaryngology, Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1159/000255339DOI Listing
August 2010

Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss.

Otol Neurotol 2008 Aug;29(5):601-6

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114-3096, USA.

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http://dx.doi.org/10.1097/MAO.0b013e3181778245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587055PMC
August 2008

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.

Am J Med Genet A 2008 Apr;146A(8):1017-25

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

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http://dx.doi.org/10.1002/ajmg.a.32174DOI Listing
April 2008

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

Eur J Hum Genet 2008 Aug 20;16(8):961-9. Epub 2008 Feb 20.

Folkhälsan Institute of Genetics and Neuroscience Center, Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2008.22DOI Listing
August 2008

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Hum Mutat 2008 Mar;29(3):451

Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO-9037 Tromsø, Norway.

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http://dx.doi.org/10.1002/humu.9524DOI Listing
March 2008

Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome.

Int J Pediatr Otorhinolaryngol 2008 Jan 15;72(1):121-6. Epub 2007 Oct 15.

Department of Surgery, Division of Pediatric Surgery, University of Calgary, Calgary, Alberta, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S016558760700408
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http://dx.doi.org/10.1016/j.ijporl.2007.08.019DOI Listing
January 2008

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

Eur J Hum Genet 2007 Nov 18;15(11):1121-31. Epub 2007 Jul 18.

Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201900DOI Listing
November 2007

Non-disjunction of chromosome 13.

Hum Mol Genet 2007 Aug 21;16(16):2004-10. Epub 2007 Jun 21.

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/10.1093/hmg/ddm148DOI Listing
August 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

Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.

J Biol Chem 2006 Jul 10;281(29):20129-39. Epub 2006 May 10.

Department of Biochemistry, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1074/jbc.M601514200DOI Listing
July 2006

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Eur J Hum Genet 2005 Dec;13(12):1275-84

The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

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http://www.nature.com/articles/5201491
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http://dx.doi.org/10.1038/sj.ejhg.5201491DOI Listing
December 2005

Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

Int J Audiol 2005 May;44(5):307-16

The Sahlgrenska Academy, Institute of Selected Clinical Sciences, Dept. of Audiology, Box 452, SE-405 30 Gothenburg, Sweden.

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http://dx.doi.org/10.1080/14992020500060610DOI Listing
May 2005

Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.

Genet Test 2004 ;8(4):404-6

Willhelm Johansen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.

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http://dx.doi.org/10.1089/gte.2004.8.404DOI Listing
May 2005

The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.

Hum Mol Genet 2004 Sep 14;13(18):2101-11. Epub 2004 Jul 14.

Department of Chemistry and Biochemistry, UCLA, Los Angeles, CA 90095-15691, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddh217DOI Listing
September 2004

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.

Hum Genet 2003 Aug 17;113(3):293-5. Epub 2003 Jun 17.

Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK-2400, Copenhagen NV, Denmark.

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http://dx.doi.org/10.1007/s00439-003-0967-8DOI Listing
August 2003

Deoxyribonucleic acid contamination in archival human temporal bones: a potentially significant problem.

Otol Neurotol 2002 Sep;23(5):789-92

Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/00129492-200209000-00030DOI Listing
September 2002

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.

Hum Mol Genet 2002 Mar;11(5):477-86

Department of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los Angeles, CA 90095-1569, USA.

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http://dx.doi.org/10.1093/hmg/11.5.477DOI Listing
March 2002