Lut Van Laer

Lut Van Laer

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Lut Van Laer

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Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Bone 2019 04 23;121:191-195. Epub 2019 Jan 23.

Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.bone.2019.01.022DOI Listing
April 2019

Spontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention.

JACC Cardiovasc Interv 2019 Mar 15;12(6):e45-e47. Epub 2018 Nov 15.

Department of Cardiology, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium; Antwerp Cardiovascular Center, ZNA Middelheim, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.jcin.2018.09.007DOI Listing
March 2019

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

BMC Med Genet 2018 08 8;19(1):140. Epub 2018 Aug 8.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0655-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083619PMC
August 2018

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

Eur J Med Genet 2018 Jan 9;61(1):8-10. Epub 2017 Oct 9.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.10.003DOI Listing
January 2018

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Ann Cardiothorac Surg 2017 Nov;6(6):582-594

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.21037/acs.2017.11.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721110PMC
November 2017

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

J Mol Diagn 2017 05 22;19(3):445-459. Epub 2017 Mar 22.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2017.01.010DOI Listing
May 2017

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Genet Res (Camb) 2016 10 11;98:e13. Epub 2016 Oct 11.

Center of Medical Genetics,Faculty of Medicine and Health Sciences,University of Antwerp and Antwerp University Hospital,Antwerp,Belgium.

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http://dx.doi.org/10.1017/S0016672316000112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6865158PMC
October 2016

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.

Hum Mutat 2016 06 14;37(6):524-31. Epub 2016 Mar 14.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22977DOI Listing
June 2016

TGF-β signalopathies as a paradigm for translational medicine.

Eur J Med Genet 2015 Dec 24;58(12):695-703. Epub 2015 Oct 24.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2015.10.010DOI Listing
December 2015

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Am J Hum Genet 2015 Nov 29;97(5):761-8. Epub 2015 Oct 29.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Science for Life Laboratory and Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667130PMC
November 2015

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Hum Mutat 2015 Aug 13;36(8):808-14. Epub 2015 Jun 13.

Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22802DOI Listing
August 2015

VariantDB: a flexible annotation and filtering portal for next generation sequencing data.

Genome Med 2014 2;6(10):74. Epub 2014 Oct 2.

Department of Medical Genetics, University of Antwerp, 2650 Edegem, Antwerp Belgium.

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http://genomemedicine.biomedcentral.com/articles/10.1186/s13
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http://dx.doi.org/10.1186/s13073-014-0074-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210545PMC
October 2014

Intermittent Brugada syndrome in an anorexic adolescent girl.

J Cardiol Cases 2014 Sep 22;10(3):81-84. Epub 2014 Jul 22.

Division of Cardiology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.jccase.2014.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281732PMC
September 2014

Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.

Semin Arthritis Rheum 2014 Aug 5;44(1):101-4. Epub 2014 Mar 5.

Division of Paediatric Immunology and Rheumatology, Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.

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http://dx.doi.org/10.1016/j.semarthrit.2014.03.003DOI Listing
August 2014

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.

Eur J Pediatr 2014 May 26;173(5):671-5. Epub 2013 Nov 26.

Division of Pediatric Cardiology, Department of Pediatrics, Emory University, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322, USA,

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http://dx.doi.org/10.1007/s00431-013-2217-yDOI Listing
May 2014

Loeys-Dietz syndrome.

Adv Exp Med Biol 2014 ;802:95-105

Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital/University of Antwerp, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.

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http://dx.doi.org/10.1007/978-94-007-7893-1_7DOI Listing
May 2014

An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?

Hum Mutat 2014 May 7;35(5):571-4. Epub 2014 Apr 7.

Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22540DOI Listing
May 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Bonekey Rep 2013 4;2:456. Epub 2013 Dec 4.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia ; Department of Endocrinology, Royal Brisbane and Women's Hospital , Herston, Queensland, Australia.

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http://pubmedcentralcanada.ca/pmcc/articles/PMC3909233/pdf/b
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http://www.nature.com/doifinder/10.1038/bonekey.2013.190
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http://dx.doi.org/10.1038/bonekey.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909233PMC
February 2014

A dominant-negative GFI1B mutation in the gray platelet syndrome.

N Engl J Med 2014 Jan 10;370(3):245-53. Epub 2013 Dec 10.

From the Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Nijmegen Center for Molecular Life Sciences (D.M., A.E.M., S.M.B., H.V., G.H., F.P., W.V.H., J.H.J., B.A.V.R.) and the Departments of Pathology (K.M.H., B.W.), Hematology (B.A.P.L.G., M.A.M., G.H.), Cardiology (A.L.D.), and Human Genetics (S.S., M.J.E.K.), Radboud University Medical Center - all in Nijmegen, the Netherlands; the Department of Medical Genetics, Antwerp University Hospital and University of Antwerp (N.A.B., E.F., G.V.C., B.L.L., L.V.L.) and the Statua Center for Statistics, University of Antwerp (E.F.), Antwerp, Belgium; and the Department of Hematology, University Hospital, Essen, Germany (C.K., L.B.).

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http://dx.doi.org/10.1056/NEJMoa1308130DOI Listing
January 2014

Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.

Eur J Pediatr 2013 Aug 17;172(8):997-1005. Epub 2012 Jul 17.

Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650 Antwerp, Edegem, Belgium.

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http://dx.doi.org/10.1007/s00431-012-1773-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722447PMC
August 2013

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility.

Circ Res 2013 Jul;113(3):327-40

Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Belgium.

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http://dx.doi.org/10.1161/CIRCRESAHA.113.300675DOI Listing
July 2013

Marfan syndrome: from gene to therapy.

Curr Opin Pediatr 2012 Aug;24(4):498-504

Laboratory for Aneurysmal Disease Research, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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https://www.med.unc.edu/tarc/events/event-files/Marfans.%20c
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MOP.0b013e3283557d4cDOI Listing
August 2012

DFNA5, a gene involved in hearing loss and cancer: a review.

Ann Otol Rhinol Laryngol 2012 Mar;121(3):197-207

Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1177/000348941212100310DOI Listing
March 2012

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.

Eur J Hum Genet 2011 Sep 27;19(9):965-73. Epub 2011 Apr 27.

Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, Wilrijk, Belgium.

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http://dx.doi.org/10.1038/ejhg.2011.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179363PMC
September 2011

Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population.

Hear Res 2010 Jun 18;265(1-2):1-10. Epub 2010 Mar 18.

Department of Otolaryngology, University (UA) and University Hospital of Antwerp (UZA), Wilrijkstraat 10, 2650 Edegem, Belgium.

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http://dx.doi.org/10.1016/j.heares.2010.03.007DOI Listing
June 2010

Genetic studies on noise-induced hearing loss: a review.

Ear Hear 2009 Apr;30(2):151-9

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1097/AUD.0b013e3181987080DOI Listing
April 2009

Audiometric shape and presbycusis.

Int J Audiol 2009 Apr;48(4):222-32

Department of Otolaryngology, University and University Hospital of Antwerp, Wilrijkstraat 10, 2650 Edegem, Antwerp, Belgium.

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http://dx.doi.org/10.1080/14992020802441799DOI Listing
April 2009

Characterization of the murine Dfna5 promoter and regulatory regions.

Gene 2009 Mar 27;432(1-2):82-90. Epub 2008 Nov 27.

Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerp, Belgium.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119080059
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http://dx.doi.org/10.1016/j.gene.2008.11.017DOI Listing
March 2009

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

Mitochondrion 2008 Dec 26;8(5-6):377-82. Epub 2008 Aug 26.

Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.mito.2008.08.001DOI Listing
December 2008

Human hereditary hearing impairment: mouse models can help to solve the puzzle.

Hum Genet 2008 Nov 11;124(4):325-48. Epub 2008 Sep 11.

Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, 2610, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00439-008-0556-yDOI Listing
November 2008

Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome.

Neurobiol Dis 2006 Oct 26;24(1):28-40. Epub 2006 Jul 26.

Department of Medical Genetics, University of Antwerp, B-2610 Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.nbd.2006.04.016DOI Listing
October 2006

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.

Nat Genet 2006 Jul 25;38(7):770-8. Epub 2006 Jun 25.

Unité de Génétique des Déficits Sensoriels INSERM U587, Institut Pasteur, 25, rue du Docteur Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1038/ng1829DOI Listing
July 2006

Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.

Neurobiol Dis 2005 Aug;19(3):386-99

Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.nbd.2005.01.019DOI Listing
August 2005

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.

Am J Med Genet A 2005 Jun;135(2):126-9

Department of Medical Genetics, University of Antwerp, Universiteitsplein, Antwerp, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.30726DOI Listing
June 2005

The influence of genetic variation in oxidative stress genes on human noise susceptibility.

Hear Res 2005 Apr;202(1-2):87-96

Department of Audiology, Orebro University Hospital, Sweden.

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http://dx.doi.org/10.1016/j.heares.2004.09.005DOI Listing
April 2005

Nonsyndromic hearing loss.

Ear Hear 2003 Aug;24(4):275-88

Department of Medical Genetics, University of Antwerp, Belgium.

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http://dx.doi.org/10.1097/01.AUD.0000079805.04016.03DOI Listing
August 2003

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

Biochim Biophys Acta 2003 Jul;1638(2):179-86

Department of Zoology, University of Oxford, South Parks Road, Oxford OX1 3PS, UK.

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http://dx.doi.org/10.1016/s0925-4439(03)00083-8DOI Listing
July 2003

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

Hum Genet 2003 Apr 31;112(4):329-33. Epub 2003 Jan 31.

Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, 390-8621 Matsumoto, Japan.

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http://link.springer.de/link/service/journals/00439/contents
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http://dx.doi.org/10.1007/s00439-002-0889-xDOI Listing
April 2003

Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects.

Exp Gerontol 2003 Apr;38(4):353-9

Department of Medical Genetics, University of Antwerp (UIA), Universiteitsplein 1, B-2610 Antwerp, Belgium.

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http://dx.doi.org/10.1016/s0531-5565(03)00032-9DOI Listing
April 2003

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells.

Histochem Cell Biol 2003 Mar 19;119(3):247-56. Epub 2003 Feb 19.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00418-003-0495-6DOI Listing
March 2003

Clinical features of DFNA5.

Adv Otorhinolaryngol 2002 ;61:53-9

Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000066800DOI Listing
February 2003

Is DFNA5 a susceptibility gene for age-related hearing impairment?

Eur J Hum Genet 2002 Dec;10(12):883-6

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5200878DOI Listing
December 2002