J. Timmermans

发表

The risk for type B aortic dissection in Marfan syndrome.

A. Zwinderman, G. Pals, A. W. den Hartog, 2015, Journal of the American College of Cardiology.

Influence of Pregnancy on Aortic Diameter in Women with the Turner Syndrome.

J. Timmermans, J. Roos‐Hesselink, M. de Boer, 2020, The American journal of cardiology.

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.

J. Timmermans, D. Smeets, R. Netea-Maier, 2011, The Journal of clinical endocrinology and metabolism.

Troponin I release at rest and after exercise in patients with hypertrophic cardiomyopathy and the effect of betablockade.

J. Timmermans, F. Verheugt, H. Bos, 2006, Archivos de cardiologia de Mexico.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

J. Cruysberg, J. Timmermans, H. J. Schelhaas, 2008, neurogenetics.

Increased prevalence of migraine in Marfan syndrome.

J. Tijssen, R. D. de Bie, J. Timmermans, 2009, International journal of cardiology.

238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018

J. Bourke, G. MacGowan, J. Timmermans, 2019, Neuromuscular Disorders.

Obstetric complications in Marfan syndrome.

J. Timmermans, B. Mulder, M. Groenink, 2006, International journal of cardiology.

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

G. Pals, S. Bierma-Zeinstra, J. Timmermans, 2011, Journal of Medical Genetics.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

J. Cruysberg, J. Timmermans, H. J. Schelhaas, 2008, neurogenetics.

Genome-wide methylation patterns in Marfan syndrome

A. Zwinderman, J. Timmermans, A. Scholte, 2021, Clinical Epigenetics.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

J. Timmermans, M. Kempers, D. Micha, 2018, Journal of Medical Genetics.

Circulating transforming growth factor-β as a prognostic biomarker in Marfan syndrome.

A. Zwinderman, R. Lutter, A. W. den Hartog, 2013, International journal of cardiology.

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

E. Arbustini, J. Timmermans, B. Mulder, 2019, Orphanet Journal of Rare Diseases.

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

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

' s response to reviews Title : Localizing chronic Q fever : a challenging query

W. Oyen, J. Timmermans, T. Sprong, 2013 .

Aortic dilatation and outcome in women with Turner syndrome

J. Timmermans, J. Roos‐Hesselink, M. Kempers, 2018, Heart.

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

J. Timmermans, M. Kempers, B. Loeys, 2013, Genetics in Medicine.

Clinical features differ substantially between Caucasian and Asian populations of Marfan syndrome.

A. Zwinderman, A. W. den Hartog, R. Franken, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Localizing chronic Q fever: a challenging query

W. Oyen, J. Timmermans, T. Sprong, 2013, BMC Infectious Diseases.

Compariso nn of aorti c elasticit y in patient s wit hh the Marfan syndrom e wit h and withou t aorti cc root replacemen t

J. Tijssen, H. Lamb, J. Timmermans, 2007 .

Comparison of aortic elasticity in patients with the marfan syndrome with and without aortic root replacement.

J. Tijssen, H. Lamb, E. E. van der Wall, 2003, The American journal of cardiology.

Pregnancy and aortic root growth in the Marfan syndrome: a prospective study.

G. Boers, J. Timmermans, B. Mulder, 2005, European heart journal.

Pregnancy and aortic root growth in the Marfan syndrome: a prospective study

A. Zwinderman, G. Boers, J. Timmermans, 2005 .

Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome

J. Timmermans, A. Scholte, M. Groenink, 2011, Clinical Genetics.

UvA-DARE ( Digital Academic Repository ) Marfan syndrome : Getting to the root of the problem

A. Zwinderman, G. Pals, R. Franken, 2015 .

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

A. Zwinderman, G. Pals, A. W. den Hartog, 2015, Circulation. Cardiovascular genetics.

Aortic root growth in men and women with the Marfan's syndrome.

P. Engelfriet, J. Timmermans, B. Mulder, 2005, The American journal of cardiology.

High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy

J. Bakker, J. Timmermans, F. Verheugt, 2017, The International Journal of Cardiovascular Imaging.

Serum GDF 15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain , but Not to Disease Progression in Adult m . 3243 A > G Carriers

D. Vriens, J. Timmermans, J. Smeitink, 2018 .

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

D. Vriens, J. Timmermans, J. Smeitink, 2015, JIMD reports.

The Floating‐Harbor syndrome: two affected siblings in a family

J. Timmermans, J. Fryns, H. Berghe, 1996, Clinical genetics.

Exercise and myocardial injury in hypertrophic cardiomyopathy

J. Bakker, J. Timmermans, M. de Boer, 2020, Heart.

Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

C. Saris, J. Timmermans, R. Nijveldt, 2022, Molecular genetics and metabolism.

Defective neutrophil chemotaxis and raised serum ige levels in a child with recurrent bacterial infections and eczema. Influence of levamisole.

J. Timmermans, J. de Cree, R. Eeckels, 1978, Archives of disease in childhood.

Prediction of Extensive Myocardial Fibrosis in Nonhigh Risk Patients With Hypertrophic Cardiomyopathy.

J. Bakker, R. D. de Boer, J. Timmermans, 2018, The American journal of cardiology.

Usefulness of High-Sensitivity Cardiac Troponin T to Predict Long-Term Outcome in Patients with Hypertrophic Cardiomyopathy.

R. D. de Boer, J. Timmermans, F. Verheugt, 2021, The American journal of cardiology.

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

M. Zwarts, S. Overeem, J. Timmermans, 2007, Neuromuscular Disorders.

Case report Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation q

S. Overeem, J. Timmermans, A. Wijngaard, 2007 .

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) a statement from the HTAD working group of VASCERN.

J. Timmermans, M. Groenink, A. Evangelista, 2022, European journal of medical genetics.

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

J. Timmermans, W. Kok, R. L. Lekanne Deprez, 2015, Clinical genetics.

[Turner syndrome in adulthood: the need for multidisciplinary care].

J. Timmermans, H. Timmers, C. Beerendonk, 2007, Nederlands tijdschrift voor geneeskunde.

Familial infantile cortical hyperostosis

J. Timmermans, J. Fryns, L. Emmery, 1983, European Journal of Pediatrics.

Prevalence of histologic otosclerosis: an unbiased temporal bone study in Caucasians.

J. Timmermans, L. Michaels, F. Declau, 2007, Advances in oto-rhino-laryngology.

Prevalence of Otosclerosis in an Unselected Series of Temporal Bones

J. Timmermans, L. Michaels, F. Declau, 2001, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol

D. Stegeman, R. Griggs, C. Saris, 2015, BMC Neurology.

Inflammation Aggravates Disease Severity in Marfan Syndrome Patients

A. Zwinderman, G. Pals, R. Lutter, 2012, PloS one.

University of Groningen Inflammation Aggravates Disease Severity in Marfan Syndrome Patients Radonic,

A. Zwinderman, G. Pals, R. Lutter, 2012 .

Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers

J. Timmermans, J. Fryns, H. Berghe, 1979, Human Genetics.

Dominant mesomelic dwarfism of the hypoplastic tibia, radius type

J. Timmermans, J. Leroy, J. Vos, 1975, Clinical genetics.

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

P. Postema, J. Timmermans, P. Elliott, 2014, International journal of cardiology.

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

E. Fishman, E. Bongers, G. Mortier, 2012, Nature Genetics.

Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria.

G. Boers, J. Timmermans, S. Hutchinson, 2005, Journal of molecular biology.

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials

D. Stegeman, R. Griggs, C. Saris, 2018, JAMA.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Mutations in a TGF- b Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

J. Timmermans, B. Beverloo, L. Pardo, 2015 .

Neuromuscular features in Marfan syndrome

S. Pillen, N. van Alfen, J. Timmermans, 2009, Clinical genetics.

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

G. Vriend, G. Pals, S. Bierma-Zeinstra, 2011, Nature Genetics.

The Wolf-Hirschhorn syndrome. Deletion of the short arm of chromosome 4.

J. Timmermans, J. Fryns, H. van den Berghe, 1979, Acta paediatrica Belgica.

An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

J. Timmermans, M. Kempers, E. Fransen, 2014, Human mutation.

Compound-heterozygous Marfan syndrome.

G. Pals, J. Timmermans, B. Mulder, 2009, European journal of medical genetics.

Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial.

Henk A Marquering, A. Zwinderman, A. W. den Hartog, 2013, European heart journal.

Magneti cc resonanc e imagin g of the main pulmonar yy artery : reliabl e assessmen t of dimension ss in Marfan patient s on a simpl ee axial spin echo image

J. Timmermans, B. Mulder, M. Groenink, 2007 .

Magnetic resonance imaging of the main pulmonary artery: reliable assessment of dimensions in marfan patients on a simple axial spin echo image

E. E. van der Wall, J. Timmermans, B. Mulder, 2003, The International Journal of Cardiovascular Imaging.

The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations

A. Zwinderman, G. Pals, A. W. den Hartog, 2016, Netherlands Heart Journal.

Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial

A. Zwinderman, J. Timmermans, A. Scholte, 2020, European heart journal.

Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion.

J. Timmermans, J. Fryns, H. van den Berghe, 1981, Annales de genetique.

Ring chromosome 15 syndrome

J. Timmermans, J. Fryns, H. Berghe, 1979, Human Genetics.

The clinical spectrum of complete FBN1 allele deletions

G. Pals, J. Timmermans, H. Moll, 2011, European Journal of Human Genetics.

Male–female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases

J. Timmermans, J. Roos‐Hesselink, N. van Royen, 2020, Journal of genetic counseling.

Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.

R. Hauer, D. Atsma, G. Bonsel, 2011, European heart journal.

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms.

J. Timmermans, J. Smeets, B. V. van Engelen, 2014, Functional neurology.

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study

C. D. de Korte, J. Timmermans, J. Smeitink, 2017, Journal of Inherited Metabolic Disease.

High T2-weighted signal intensity is associated with elevated troponin T in hypertrophic cardiomyopathy

J. Bakker, J. Timmermans, F. Verheugt, 2016, Heart.

Association between Lifelong Physical Activity and Disease Characteristics in HCM

P. Thompson, J. Bakker, J. Timmermans, 2019, Medicine and science in sports and exercise.

Progressive Pulmonary Artery Dilatation is Associated with Type B Aortic Dissection in Patients with Marfan Syndrome

J. Timmermans, N. van Royen, B. Loeys, 2019, Journal of clinical medicine.

Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2013, The Annals of thoracic surgery.

Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

J. Osinga, G. Pals, J. Timmermans, 2014, Gene.

Intrinsic biventricular dysfunction in Marfan syndrome

A. Zwinderman, J. Timmermans, A. Scholte, 2011, Heart.

Evaluation of left ventricular dimensions and function in Marfan's syndrome without significant valvular regurgitation.

J. Timmermans, M. P. van den Berg, B. Mulder, 2005, The American journal of cardiology.

Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome.

Henk Marquering, A. Zwinderman, R. Franken, 2015, International journal of cardiology.

Aortic distensibility in Marfan syndrome: a potential predictor of aortic events?

A. Zwinderman, J. Timmermans, A. Scholte, 2021, Open Heart.

University of Groningen Long-term clinical outcomes of losartan in patients with Marfan syndrome

A. Zwinderman, J. Timmermans, A. Scholte, 2020 .

Aortic disease in patients with Marfan syndrome: aortic volume assessment for surveillance.

A. Zwinderman, A. W. den Hartog, R. Franken, 2013, Radiology.

Consensus recommendation on Fabry disease diagnosis in adult patients with left ventricular hypertrophy

P. Postema, J. Timmermans, P. Elliott, 2014 .

Chapter 2 . 3 Mutations in a TGFß ligand , TGFB 3 , cause syndromic aortic aneurysms and dissections Mutations in TGFB 3 cause syndromic aortic aneurysms and dissections

M. Goumans, K. Devriendt, J. Timmermans, 2019 .

Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping.

A. Zwinderman, E. E. van der Wall, J. Timmermans, 2001, Radiology.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

A. Hoischen, J. Timmermans, H. Dietz, 2019, European Journal of Human Genetics.

Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion

J O Barentsz, E E van der Wall, E. E. van der Wall, 2002, Heart.

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

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

Chapter 4e – Turner Syndrome

J. Timmermans, J. Roos‐Hesselink, A. V. D. Hoven, 2017 .

Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion

J. Timmermans, M. Groenink, J. Barentsz, 2002, Heart.

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

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.

G. Boers, J. Timmermans, M. den Heijer, 2004, The Netherlands journal of medicine.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Aortic disease in patients with Marfan syndrome: aortic volume assessment for surveillance.

A. Zwinderman, A. W. den Hartog, R. Franken, 2013, Radiology.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

A. Hoischen, J. Timmermans, H. Dietz, 2019, European Journal of Human Genetics.

Circulating transforming growth factor-β as a prognostic biomarker in Marfan syndrome.

A. Zwinderman, R. Franken, J. Timmermans, 2013, International journal of cardiology.

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

A. Zwinderman, R. Franken, J. Timmermans, 2015, Circulation. Cardiovascular genetics.

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) a statement from the HTAD working group of VASCERN.

J. Timmermans, M. Groenink, A. Evangelista, 2022, European journal of medical genetics.

Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomised controlled trial

A. Zwinderman, R. Franken, J. Timmermans, 2016 .

Defective neutrophil chemotaxis and raised serum ige levels in a child with recurrent bacterial infections and eczema. Influence of levamisole.

J. Timmermans, R. Eeckels, J. Crée, 1978, Archives of disease in childhood.