I. Frohn-Mulder

发表

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

F. T. ten Cate, E. Sijbrands, K. Caliskan, 2010, Circulation. Cardiovascular genetics.

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

P. Heutink, B. Oostra, F. T. ten Cate, 2007, Human Genetics.

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

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

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

G. Schaaf, M. V. van Slegtenhorst, M. Wessels, 2019, Circulation. Genomic and precision medicine.

Aggressive Cardiovascular Phenotype of Aneurysms-osteoarthritis Syndrome Caused by Pathogenic Smad3 Variants

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2022 .

Management of fixed subaortic stenosis: a retrospective study of 57 cases.

A. Bogers, E. Bos, J. Hess, 1992, Journal of the American College of Cardiology.

Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience

M. Michels, F. J. Cate, D. Dooijes, 2007, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

R. Krijger, J. C. Herkert, M. Michels, 2014, European Journal of Human Genetics.

ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype

P. Bauer, A. Bertoli-Avella, C. Beetz, 2020, Clinical genetics.

Maternal Autoantibodies and Congenital Heart Block: No Evidence for the Existence of a Unique Heart Block-associated Anti-Ro/SS-A Autoantibody Profile

P. Stewart, J. Hess, R. Smeenk, 1993 .

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

B. Oostra, M. Lequin, A. Bertoli-Avella, 2009, European heart journal.

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

W. Helbing, A. T. van der Ploeg, B. Cools, 2018, International journal of cardiology.

Endocarditis of a congenital coronary fistula in a child

M. Dalinghaus, T. Krasemann, I. V. van Beynum, 2017, Cardiology in the Young.

Three new families with arterial tortuosity syndrome

C. Catsman-Berrevoets, H. Stroink, M. Breuning, 2004, American journal of medical genetics. Part A.

Prenatal ultrasound diagnosis of MYH7 non‐compaction cardiomyopathy

T. Cohen-Overbeek, D. Dooijes, Y. Hoedemaekers, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Chromosome 22q11 deletions in patients with selected outflow tract malformations.

J. Hess, J. Van Hemel, I. Frohn-Mulder, 1999, Genetic counseling.

A case report on endarteritis in a child with coarctation of aorta

L. Koopman, B. Bartelds, I. Frohn-Mulder, 2019, Echocardiography.

Assessment of ventricular septal defect closure by intraoperative epicardial ultrasound.

G. Sutherland, A. Fraser, O. Stümper, 1990, Journal of the American College of Cardiology.

Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation

J. Wladimiroff, J. Wladimiroff, P. Willems, 2003, American journal of medical genetics. Part A.

Aspects of the aetiology of congenital heart disease.

D. Grobbee, J. Wladimiroff, E. Buskens, 1995, European heart journal.

Juxtaductal pulmonary artery coarctation. An underestimated cause of branch pulmonary artery stenosis in patients with pulmonary atresia or stenosis and a ventricular septal defect.

E. Bos, J. Quaegebeur, N. Elzenga, 1990, The Journal of thoracic and cardiovascular surgery.

Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.

A. Wilde, W. Shimizu, M. Ackerman, 2019, Heart rhythm.

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.

Clinical significance of maternal anti-Ro/SS-A antibodies in children with isolated heart block.

P. Stewart, J. Hess, A. Szatmári, 1994, Journal of the American College of Cardiology.

Autosomal dominant inheritance of left ventricular outflow tract obstruction

J. Roos‐Hesselink, J. Wladimiroff, R. Krijger, 2005, American journal of medical genetics. Part A.

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

J. Belmont, K. Devriendt, Z. Rahimi, 2012, Circulation research.

In utero diagnosis of infra‐diaphragmatic total anomalous pulmonary venous return

I. Frohn-Mulder, J. W. Wladimiroff, M. Wessels, 1996, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Assessment of Ventricular Septal Defect Closure by Intraoperative Epicardial Ultrasound

G. Sutherland, A. Fraser, O. Stümper, 1990, Journal of the American College of Cardiology.

Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI

W. Hop, W. Helbing, A. T. van der Ploeg, 2012, Journal of Inherited Metabolic Disease.

Low agreement between cardiologists diagnosing left ventricular hypertrophy in children with end-stage renal disease

J. H. van der Lee, J. Ottenkamp, J. Groothoff, 2013, BMC Nephrology.

Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia: Disease Penetrance and Expression in Cardiac Ryanodine Receptor Mutation–Carrying Relatives

A. Wilde, M. P. van den Berg, R. Waalewijn, 2012, Circulation. Arrhythmia and electrophysiology.

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation

R. Oldenburg, M. V. van Slegtenhorst, A. Schinkel, 2017, Circulation. Cardiovascular genetics.

Fluorinated steroids do not improve outcome of isolated atrioventricular block.

D. de Bruijn, M. Haak, C. Bilardo, 2016, International journal of cardiology.

Efficacy of routine fetal ultrasound screening for congenital heart disease in normal pregnancy.

D E Grobbee, J Hess, D. Grobbee, 1996, Circulation.

Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

W. Vletter, M. Kroos, M. Geleijnse, 2008, Journal of the Neurological Sciences.

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

R. Hofstra, J. Roos‐Hesselink, K. Lichtenbelt, 2016, Genetics in Medicine.

Health care professionals' experiences with pre-loss care in pediatrics; goals, strategies, obstacles and facilitators.

A. Molderink, P. Boelen, M. Grootenhuis, 2020, Journal of pain and symptom management.

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

R. Sinke, R. Hofstra, J. Saffitz, 2016, Journal of the American College of Cardiology.

Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy

R. Oldenburg, M. V. van Slegtenhorst, S. Baart, 2018, Circulation. Genomic and precision medicine.

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.

Congenital heart defects and pulmonary arterial hypertension

R. Hofstra, J. Roos‐Hesselink, K. Lichtenbelt, 2014 .

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Myrthe van den Born, M. V. van Slegtenhorst, J. H. von der Thüsen, 2018, Circulation. Genomic and precision medicine.

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.

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

J. Jaeken, M. Hagemans, P. Merkus, 2010, Neuromuscular Disorders.

Fluorinated steroids do not improve outcome of isolated atrioventricular block.

M. Haak, C. Bilardo, M. Rijlaarsdam, 2016, International journal of cardiology.