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List of works by Bart L Loeys

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

scientific article published on 14 December 2011

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease

scientific article published on 26 October 2015

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

scientific article published on 10 January 2013

A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome.

scientific article published in July 2006

A dominant-negative GFI1B mutation in the gray platelet syndrome

scientific article

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

scientific article (publication date: March 2005)

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

scientific article published in August 2008

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model

scientific article

Aetiology and management of hereditary aortopathy

scientific article published on 19 January 2017

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants

scientific article published on 23 May 2012

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

scientific article

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

scientific article published in January 2015

An integrated framework to quantitatively link mouse-specific hemodynamics to aneurysm formation in angiotensin II-infused ApoE -/- mice

scientific article

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

scientific article published on 07 April 2014

Aneurysm of the Pulmonary Artery, a Systematic Review and Critical Analysis of Current Literature.

scientific article

Aneurysm syndromes caused by mutations in the TGF-beta receptor

scientific article

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

scientific article

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states

scientific article

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

scientific article published on 02 October 2014

Aortic dissection in a young man with Loeys–Dietz syndrome

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

scientific article

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

scientific article published in January 2008

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

scientific article

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

scientific article

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

scientific article published on 01 December 2016

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

scientific article published on 8 September 2014

Bruck syndrome: neonatal presentation and natural course in three patients

scientific article published in October 1998

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

scientific article

Cardiovascular manifestations in men and women carrying a FBN1 mutation

scientific article published on 13 August 2010

Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome

article published in 2015

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

scientific article published on 16 September 2009

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

scientific article

Circulating transforming growth factor-beta in Marfan syndrome

scientific article

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree

scientific article

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

scientific article

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

scientific article

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

scientific article published on 28 October 2015

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

scientific article published on 27 April 2011

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

scientific article published on 7 April 2010

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

scientific article

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

scientific article published in August 2004

Congenital glucose–galactose malabsorption: a novel deletion within the SLC5A1 gene

article

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

scientific article published on 29 February 2008

DUP25 remains unconfirmed

scientific article published on 01 December 2004

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaborat

scientific article published on 12 February 2015

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

scientific article published on 3 August 2010

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence

scientific article published in July 2002

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

scientific article published on 2 November 2016

Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease

scientific article

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

scientific article

Ehlers-Danlos syndromes and Marfan syndrome

scientific article

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

scientific article published on February 2009

Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation

scientific article published on 8 August 2008

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

scientific article published on 21 March 2009

Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

article

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

scientific article

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis

scientific article published in August 1999

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

scientific article

GENETIC FIBRILLINOPATHIES : NEW INSIGHTS IN MOLECULAR DIAGNOSIS AND CLINICAL MANAGEMENT

scientific article published on 01 January 2003

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

scientific article published on 30 September 2015

Genetic variations in toll-like receptor pathway and lung function decline in Cystic fibrosis patients

scientific article published on 29 August 2013

Genetics of sudden cardiac death in the young

scientific article published on 22 November 2014

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

scientific article

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome

scientific article published in November 2001

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

scientific article published in May 2010

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

scientific article

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

scientific article (publication date: September 2002)

Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype

scientific article (publication date: July 2006)

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

scientific article published on 11 October 2016

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome

scientific article published on 30 March 2016

Identification of copy number variants associated with BPES-like phenotypes

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

scientific article (publication date: May 2006)

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

scientific journal article

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms

scientific article published on 01 September 2002

Loeys-Dietz syndrome

scientific article

Loeys-Dietz syndrome: MDCT angiography findings

scientific article published on July 2007

Loeys-Dietz syndrome: a possible solution for Akhenaten's and his family's mystery syndrome

scientific article published on 14 June 2012

Loeys-Dietz syndrome: a primer for diagnosis and management

scientific article

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

scientific article

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

scientific article published on 8 July 2012

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

scientific article published on 15 September 2016

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

scientific article published on 26 February 2016

Marfan syndrome: from gene to therapy

scientific article published on August 2012

Musculoskeletal findings of Loeys-Dietz syndrome.

scientific article published in August 2010

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

scientific article

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

scientific article published on 5 March 2013

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

scientific journal article

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

scientific article published on 26 January 2012

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

scientific article

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

scientific article

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

scientific article published on 30 September 2012

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

scientific article

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

scientific article published in October 2004

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

scientific article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

scientific article

Neuroradiologic manifestations of Loeys-Dietz syndrome type 1.

scientific article

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

scientific article

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

scientific article

Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice

scientific article

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

scientific article published on 9 October 2014

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

scientific article published on 22 June 2016

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

scientific article published on 19 September 2011

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

scientific article published in January 2008

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome

scientific article

PORCN mutations in focal dermal hypoplasia: coping with lethality

scientific article published in May 2009

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

scientific article published on 01 May 2009

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

article by Ingrid M B H van de Laar et al published 13 December 2011 in Journal of Medical Genetics

Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients.

scientific article published on 29 August 2012

Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

scientific article

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

scientific article

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

scientific article published on 19 November 2018

Recent progress towards a molecular understanding of Marfan syndrome

scientific article

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

scientific article published in September 2016

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

scientific article

Replacing vascular corrosion casting by in vivo micro-CT imaging for building 3D cardiovascular models in mice

scientific article

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders

scientific article

Response to Pyeritz et al

article

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

scientific article

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

scientific article

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

scientific article

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

scientific article published in January 2002

TGF-β signalopathies as a paradigm for translational medicine.

scientific article

Telomeric refinement of the MCKD1 locuson chromosome 1q21**See Editorial by Bichet and Fujiwara, p. 864

The 8th international research symposium on the Marfan Syndrome and related conditions

The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers

scientific article published on 15 January 2011

The Loeys-Dietz syndrome: an update for the clinician

scientific article

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto

article

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

scientific article

The diagnostic value of the facial features of Marfan syndrome

scientific article

The genetic architecture of non-syndromic thoracic aortic aneurysm

scientific article published on 09 September 2015

The impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data.

scientific article

The influence of aortic dimensions on calculated wall shear stress in the mouse aortic arch

scientific article published in October 2009

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients

scientific article published in January 2005

The molecular genetics of Marfan syndrome and related disorders

scientific article

The neuromuscular differential diagnosis of joint hypermobility

scientific article published on March 2015

The new Ghent criteria for Marfan syndrome: what do they change?

scientific article

The revised Ghent nosology for the Marfan syndrome

scientific article

The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

article published in 2013

Unusual 8p inverted duplication deletion with telomere capture from 8q.

scientific article

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

scientific article

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

scientific article published in September 2007

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

scientific article

What is new in dilatation of the ascending aorta? Review of current literature and practical advice for the cardiologist

scientific article published on March 2011

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

scientific article published on 04 December 2013

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