M. Baars

发表

Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem

Lidewij Henneman, L. Henneman, L. P. Kate, 2005, Genetics in Medicine.

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature

B. Mulder, R. Versteeg, H. Caron, 2008, European Journal of Pediatrics.

Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union.

J. Schmidtke, M. Cornel, Hillary Harris, 2009, Genetic testing and molecular biomarkers.

Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands.

L. Henneman, M. Baars, L. T. ten Kate, 2004, Genetic testing.

The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective

E. Smets, B. Mulder, A. Postma, 2013, American journal of medical genetics. Part A.

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia

A. Moorman, B. Mulder, B. Keavney, 2010, Heart.

tetralogy of Fallot and pulmonary atresia under-recognised in adult patients with 22 q 11 . 2 Deletion Syndrome is

A. Moorman, B. Mulder, B. Keavney, 2022 .

Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial

A. Zwinderman, B. Mulder, M. Groenink, 2010, Trials.

Ebstein ’ s anomaly may be caused by mutations in the sarcomere protein gene MYH 7

A. Moorman, B. Mulder, B. Keavney, 2013 .

Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7

A. Moorman, B. Mulder, B. Keavney, 2011, Netherlands Heart Journal.

Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7

B. Mulder, B. Keavney, A. Postma, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Adults with congenital heart disease: Patients' knowledge and concerns about inheritance

E. Smets, B. Mulder, E. T. van der Velde, 2011, American journal of medical genetics. Part A.

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

A. Moorman, A. Wilde, B. Mulder, 2011, European Journal of Human Genetics.

Abstract 1772: 22q11 Deletions in Adults With Tetralogy of Fallot Are Highly Under Recognized

A. Moorman, B. Mulder, B. Keavney, 2009 .

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

J. Roos‐Hesselink, J. Bekkers, M. Kempers, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice

V. de Waard, P. Krijnen, S. Hibender, 2022, Vascular biology.

The Authors' reply

B. Mulder, A. Postma, K. van Engelen, 2011, Heart.

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.

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 .

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

M. Huynen, R. Rodenburg, M. Huigsloot, 2011, American journal of human genetics.

Functional characterisation of the TSC 1 – TSC 2 complex to assess multiple TSC 2 variants identified in single families affected by tuberous sclerosis complex

A. Ouweland, M. Goedbloed, M. Nellist, 2008 .

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

A. V. D. van den Ouweland, M. Goedbloed, M. Nellist, 2008, BMC Medical Genetics.

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

B. Mulder, V. Christoffels, A. Postma, 2012, PloS one.

A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial

A. Baas, J. P. van Tintelen, I. Christiaans, 2021, European Journal of Human Genetics.

A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial

E. Smets, A. Baas, J. P. van Tintelen, 2021, European Journal of Human Genetics.

Spontaneous Intracranial Hypotension as First Symptom of Aneurysms‐Osteoarthritis Syndrome: A Case Report

H. Koppen, M. Baars, J. C. Vis, 2015, Headache.

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

R. L. Lekanne Deprez, M. Alders, J. M. van Hagen, 2006, Journal of Medical Genetics.

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

M. Groenink, M. Kempers, K. Yeung, 2018, Human mutation.

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Bernard Keavney, Silke R. Sperling, Thomas Pickardt, 2011, Circulation. Cardiovascular genetics.

Beliefs and Self-Perceived Competence of General Practitioners , Gynaecologists and Paediatricians with regard to Genetic Testing

M. Cornel, L. Henneman, M. Baars, 2012 .

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

G. Pals, A. Scholte, B. Hamel, 2010, Human mutation.

Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation

Lidewij Henneman, R. Hennekam, F. Beemer, 2005, Genetics in Medicine.

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

R. Redon, Y. Pinto, A. Wilde, 2014, Journal of the American College of Cardiology.

Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature

B. Mulder, H. Baars, A. Houweling, 2015 .

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1

A. Houweling, M. Baars, E. Overwater, 2019, Netherlands Heart Journal.

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

Floor A. M. Postema, A. Zwinderman, G. Pals, 2022, American journal of medical genetics. Part A.

Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot Reply

B. Mulder, A. Postma, M. Baars, 2011 .

Comparison of activities and attitudes of general practitioners concerning genetic counseling over a 10-year time-span.

H. Adèr, M. Langendam, D. J. de Smit, 2003, Patient education and counseling.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects

B. Mulder, B. Bouma, V. Christoffels, 2014, American journal of medical genetics. Part A.

Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study

M. Jongbloed, B. Mulder, A. G. Gittenberger-de Groot, 2014, Fetal Diagnosis and Therapy.

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

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

Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7

B. Mulder, B. Keavney, A. Postma, 2013, American journal of medical genetics. Part C, Seminars in medical 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.