Bart L Loeys

Bart L Loeys

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Bart L Loeys

Bart L Loeys

Publications by authors named "Bart L Loeys"

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Arterial Tortuosity.

Hypertension 2019 May;73(5):951-960

Division of Cardiology, Cliniques Universitaires Saint-Luc and Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique (A.P.), Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.118.11647DOI Listing
May 2019

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum.

Eur J Med Genet 2019 02 12;62(2):96. Epub 2018 Jun 12.

Cardiogenetics, Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.06.008DOI Listing
February 2019

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

Partial anomalous pulmonary venous return in Turner syndrome.

Eur J Radiol 2017 Oct 4;95:141-146. Epub 2017 Aug 4.

Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejrad.2017.07.024DOI Listing
October 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 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
October 2016

Genetic Testing in Thoracic Aortic Disease--When, Why, and How?

Can J Cardiol 2016 Jan 30;32(1):131-4. Epub 2015 Sep 30.

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

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http://dx.doi.org/10.1016/j.cjca.2015.09.018DOI Listing
January 2016

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

The genetic architecture of non-syndromic thoracic aortic aneurysm.

Heart 2015 Oct 9;101(20):1678-84. Epub 2015 Sep 9.

Laboratory for aneurysmal disease, Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1136/heartjnl-2014-306381DOI Listing
October 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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders?

Authors:
Bart L Loeys

Drug Discov Today 2015 Feb 2;20(2):262-6. Epub 2014 Oct 2.

Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Prins Boudewijnlaan 43, 2650 Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2014.09.022DOI Listing
February 2015

Atenolol versus losartan in children and young adults with Marfan's syndrome.

N Engl J Med 2014 Nov 18;371(22):2061-71. Epub 2014 Nov 18.

From Boston Children's Hospital, Boston (R.V.L., S.D.C., E.S.S.T., J.C.L.); Johns Hopkins University School of Medicine, Baltimore (H.C.D.); New England Research Institutes, Watertown, MA (L.A.S., S.D.C., S.C., G.L.K.); Primary Children's Hospital and the University of Utah, Salt Lake City (A.T.Y.); Hospital for Sick Children, Toronto (T.J.B., E.R.); National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (G.D.P., V.L.P., M.P.S.); Medical University of South Carolina, Charleston (A.M.A.); Cincinnati Children's Medical Center, Cincinnati (D.W.B.); Washington University School of Medicine, St. Louis (A.C.B., A.M.S.); Ghent University Hospital, Ghent, Belgium (J.D.B., B.L.L.); Icahn School of Medicine at Mount Sinai (B.D.G.), Children's Hospital of New York (W.W.L.), and Weill Medical College of Cornell University (M.J.R.) - all in New York; Rady Children's Hospital, University of California, San Diego (P.D.G.); Texas Children's Hospital, Houston (A.L.); Vanderbilt University School of Medicine, Nashville (L.W.M.); Seattle Children's Hospital, Seattle (A.K.O.); Children's Hospital of Philadelphia (S.M.P.) and the University of Pennsylvania (R.E.P.), Philadelphia; Children's Hospital and Clinics of Minnesota, Minneapolis (M.E.P.); Duke University Medical Center, Durham, NC (S.B.W.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (L.T.Y.); and the University of Texas Southwestern Medical Center, Dallas (L.M.).

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http://dx.doi.org/10.1056/NEJMoa1404731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386623PMC
November 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

A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome.

Genet Med 2013 Jul 10;15(7):528-32. Epub 2013 Jan 10.

Department of Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/gim.2012.172DOI Listing
July 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

Bone lessons from Marfan syndrome and related disorders: fibrillin, TGF-B and BMP at the balance of too long and too short.

Pediatr Endocrinol Rev 2013 Jun;10 Suppl 2:417-23

Center for Medical Genetics, University of Antwerp, Antwerp, BE.

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June 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

The diagnostic value of the facial features of Marfan syndrome.

J Child Orthop 2010 Dec 31;4(6):545-51. Epub 2010 Oct 31.

Department of Orthopaedic Surgery, Johns Hopkins Bayview Medical Center, 4940 Eastern Ave., #A665, Baltimore, MD 21224-2780 USA.

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http://dx.doi.org/10.1007/s11832-010-0295-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2981714PMC
December 2010

Musculoskeletal findings of Loeys-Dietz syndrome.

J Bone Joint Surg Am 2010 Aug;92(9):1876-83

Department of Orthopaedic Surgery, Johns Hopkins Bayview Medical Center, 4940 Eastern Avenue, Baltimore, MD 21224-2780, USA.

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http://dx.doi.org/10.2106/JBJS.I.01140DOI Listing
August 2010

Loeys-Dietz syndrome: MDCT angiography findings.

AJR Am J Roentgenol 2007 Jul;189(1):W29-35

Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins School of Medicine, 601 N Caroline St., Rm. 3251, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.2214/AJR.06.1316DOI Listing
July 2007

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.

Hum Mol Genet 2006 Dec 11;15(23):3379-86. Epub 2006 Oct 11.

Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1093/hmg/ddl414DOI Listing
December 2006

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.

Pediatrics 2006 May;117(5):1830-3

Department of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1542/peds.2005-2301DOI Listing
May 2006