D. Majoor-Krakauer

发表

State-of-the art review: Noncompaction cardiomyopathy in pediatric patients

K. Caliskan, R. Muslem, S. Rohde, 2021, Heart Failure Reviews.

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.

W. Kamphorst, H. J. Schelhaas, J. V. van Swieten, 2007, Brain : a journal of neurology.

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.

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

A. Wilde, P. Postema, M. Mannens, 2010, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

Arterial elongation and tortuosity leads to detection of a de novo TGFBR2 mutation in a young patient with complex aortic pathology.

H. Verhagen, D. Majoor-Krakauer, F. Bastos Gonçalves, 2013, European heart journal.

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

A. Wilde, R. D. de Haan, J. Oosterwijk, 2011, Neurology.

Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.

F. T. ten Cate, M. Michels, O. Soliman, 2009, European heart journal.

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.

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.

M. P. van den Berg, R. Hofstra, I. Kardys, 2018, Journal of the American College of Cardiology.

Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease

W. Johnson, R. Ottman, L. Rowland, 1994, Neurology.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Y. Pijnenburg, L. H. van den Berg, P. Heutink, 2012, Brain : a journal of neurology.

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R

W. Kamphorst, R. Ravid, P. Heutink, 2003, Annals of neurology.

Compliance with periodic surveillance for Von-Hippel-Lindau disease

N. Aaronson, S. Verhoef, E. Bleiker, 2011, Genetics in Medicine.

Genetic epidemiology of amyotrophic lateral sclerosis

A Hofman, A. Hofman, P. Willems, 2003, Clinical genetics.

Genetics and Family Screening for Noncompaction Cardiomyopathy

D. Majoor-Krakauer, J. Waning, 2019, Noncompaction Cardiomyopathy.

Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.

J. Tijssen, A. Wilde, F. T. ten Cate, 2011, Journal of the American College of Cardiology.

Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

G. Pals, F. Moll, I. Nijman, 2015, American journal of medical genetics. Part A.

Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.

R. Hofstra, M. V. van Slegtenhorst, K. Caliskan, 2019, Journal of the American College of Cardiology.

Reply: Different Outcomes and Additional Gene Testing.

J. I. van Waning, D. Majoor-Krakauer, 2018, Journal of the American College of Cardiology.

Systematic Review of Genotype‐Phenotype Correlations in Noncompaction Cardiomyopathy

E. Boersma, D. Heijsman, J. I. van Waning, 2019, Journal of the American Heart Association.

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

B. Oostra, G. Visser, A. Bertoli-Avella, 2009, neurogenetics.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

F. Fellmann, X. André-Fouët, G. Millat, 2012, BMC Medical Genetics.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Carel Meijers, Misha Angrist, Aravinda Chakravarti, 1996, Nature Genetics.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study

A. Broeks, N. Wulffraat, C. Catsman-Berrevoets, 2012, Human mutation.

A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands

H. Berendse, F. Baas, M. Contarino, 2020, Movement disorders : official journal of the Movement Disorder Society.

Von HippelLindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

J. Haines, C. Mathew, J. Halperin, 1988, Nature.

First‐trimester diagnosis of late‐infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

H. Stroink, P. Taschner, M. Losekoot, 2001, Prenatal diagnosis.

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

P. Pearson, E. Bakker, G. van Ommen, 1986, Journal of medical genetics.

FLNC missense variants in familial noncompaction cardiomyopathy

K. Caliskan, T. Willems, P. A. Zwaag, 2019, Cardiogenetics.

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes

N. Aaronson, C. Gundy, S. Verhoef, 2011, Psycho-oncology.

Genetic analysis of von Hippel‐Lindau disease

A. V. D. van den Ouweland, E. Voest, R. Giles, 2010, Human mutation.

Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction

B. D. de Vries, J. Roos‐Hesselink, A. Bertoli-Avella, 2009, American journal of medical genetics. Part A.

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.

Lower atherosclerotic burden in familial abdominal aortic aneurysm.

R. Stolker, S. Hoeks, H. Verhagen, 2014, Journal of vascular surgery.

Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction

J. Finsterer, N. Silverman, C. Stöllberger, 2016, Pediatric Cardiology.

Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28.

B. V. van Oost, D. Callen, E. Bakker, 1991, American journal of medical genetics.

The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

A. Wilde, C. Bezzina, M. Tanck, 2012, European Journal of Human Genetics.

Germline mutations in the Von Hippel-Lindau ( VHL ) gene

D. Halley, B. Eussen, R. Luijt, 2000 .

Intragenic probe used for diagnostics in fragile X families.

D. Nelson, S. Warren, B. Oostra, 1992, American journal of medical genetics.

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.

M. Simoons, F. T. ten Cate, K. Caliskan, 2007, European heart journal.

Chapter 3 The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC 3-related hypertrophic cardiomyopathy

A. Wilde, C. Bezzina, M. Tanck, 2012 .

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm

M. Weiss, H. Verhagen, H. Brüggenwirth, 2015, Human Genetics.

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.

Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress

S. Verhoef, N. Hoogerbrugge, D. Majoor-Krakauer, 2010, Clinical genetics.

Risk of abdominal aortic aneurysm (AAA) among male and female relatives of AAA patients

R. Stolker, S. Hoeks, H. Verhagen, 2017, Vascular medicine.

Twin vessels in von Hippel-Lindau disease.

P T de Jong, R J Verkaart, M J van de Vooren, 1988, American journal of ophthalmology.

Diagnostic CMR Imaging Criteria in Noncompaction Cardiomyopathy and the Yield of Genetic Testing.

E. Boersma, K. Nieman, M. V. van Slegtenhorst, 2020, Canadian Journal of Cardiology.

A link between ALS and short residence on Guam

R. Ottman, L. Rowland, P. Mulder, 2005, Neurology.

Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair.

R. Stolker, S. Hoeks, H. Verhagen, 2014, Journal of vascular surgery.

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1

K. Yeung, D. Micha, J. Essers, 2021, Human molecular genetics.

Aneurysmal disease is associated with lower carotid intima-media thickness than occlusive arterial disease.

E. J. Bakker, R. Stolker, S. Hoeks, 2013, Journal of vascular surgery.

Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.

F. T. ten Cate, M. Michels, O. Soliman, 2009, JACC. Cardiovascular imaging.

Circulating biomarkers of cardiovascular disease are related to aneurysm volume in abdominal aortic aneurysm

E. Boersma, I. Kardys, K. M. Akkerhuis, 2023, Vascular medicine.

Inflammation and TGF-β Signaling Differ between Abdominal Aneurysms and Occlusive Disease

J. Essers, I. van der Pluijm, P. V. van Heijningen, 2019, Journal of cardiovascular development and disease.

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

J. Oosterwijk, A. Essen, E. Bakker, 1999, Neuromuscular Disorders.

Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.

J. Wladimiroff, G. Neri, P. Stewart, 1987, American journal of medical genetics.

Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.

F. T. ten Cate, M. Michels, O. Soliman, 2009, European heart journal.