Search Results - "Frohn‐Mulder, Ingrid"

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis by Bertoli-Avella, Aida M, van de Laar, Ingrid M B H, Oldenburg, Rogier A, Pals, Gerard, Roos-Hesselink, Jolien W, de Graaf, Bianca M, Verhagen, Judith M A, Hoedemaekers, Yvonne M, Willemsen, Rob, Severijnen, Lies-Anne, Venselaar, Hanka, Vriend, Gert, Pattynama, Peter M, Collée, Margriet, Majoor-Krakauer, Danielle, Poldermans, Don, Frohn-Mulder, Ingrid M E, Micha, Dimitra, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Bierma-Zeinstra, Sita M, Willems, Patrick J, Kros, Johan M, Oei, Edwin H G, Oostra, Ben A, Wessels, Marja W

“…Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a…”
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Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy by van Velzen, Hannah G, Schinkel, Arend F L, Baart, Sara J, Oldenburg, Rogier A, Frohn-Mulder, Ingrid M E, van Slegtenhorst, Marjon A, Michels, Michelle

“…Contemporary hypertrophic cardiomyopathy (HCM) family screening includes clinical evaluation and genetic testing (GT). This screening strategy requires the…”
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Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia: Disease Penetrance and Expression in Cardiac Ryanodine Receptor Mutation–Carrying Relatives by van der Werf, Christian, Nederend, Ineke, Hofman, Nynke, van Geloven, Nan, Ebink, Corné, Frohn-Mulder, Ingrid M.E, Alings, A. Marco W, Bosker, Hans A, Bracke, Frank A, van den Heuvel, Freek, Waalewijn, Reinier A, Bikker, Hennie, van Tintelen, J Peter, Bhuiyan, Zahurul A, van den Berg, Maarten P, Wilde, Arthur A.M

“…BACKGROUND—Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome associated with mutations in the cardiac ryanodine…”
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome by van de Laar, Ingrid M B H, van der Linde, Denise, Oei, Edwin H G, Bos, Pieter K, Bessems, Johannes H, Bierma-Zeinstra, Sita M, van Meer, Belle L, Pals, Gerard, Oldenburg, Rogier A, Bekkers, Jos A, Moelker, Adriaan, de Graaf, Bianca M, Matyas, Gabor, Frohn-Mulder, Ingrid M E, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Cobben, Jan M, Bruggenwirth, Hennie T, van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J, Dietz, Harry C, Willems, Patrick J, Oostra, Ben A, De Paepe, Anne, Roos-Hesselink, Jolien W, Bertoli-Avella, Aida M, Wessels, Marja W

“…Aneurysms-osteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence…”
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Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation by van Velzen, Hannah G, Schinkel, Arend F.L, Oldenburg, Rogier A, van Slegtenhorst, Marjon A, Frohn-Mulder, Ingrid M.E, van der Velden, Jolanda, Michels, Michelle

“…BACKGROUND—MYBPC3 (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared…”
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Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants by van der Linde, Denise, MSc, van de Laar, Ingrid M.B.H., MD, Bertoli-Avella, Aida M., MD, PhD, Oldenburg, Rogier A., MD, PhD, Bekkers, Jos A., MD, Mattace-Raso, Francesco U.S., MD, PhD, van den Meiracker, Anton H., MD, PhD, Moelker, Adriaan, MD, PhD, van Kooten, Fop, MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Timmermans, Janneke, MD, Moltzer, Els, PhD, Cobben, Jan M., MD, PhD, van Laer, Lut, PhD, Loeys, Bart, MD, PhD, De Backer, Julie, MD, PhD, Coucke, Paul J., PhD, De Paepe, Anne, MD, PhD, Hilhorst-Hofstee, Yvonne, MD, Wessels, Marja W., MD, PhD, Roos-Hesselink, Jolien W., MD, PhD

“…Objectives The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical…”
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NPHP4 Variants Are Associated With Pleiotropic Heart Malformations by French, Vanessa M, van de Laar, Ingrid M.B.H, Wessels, Marja W, Rohe, Christan, Roos-Hesselink, Jolien W, Wang, Guangliang, Frohn-Mulder, Ingrid M.E, Severijnen, Lies-Anne, de Graaf, Bianca M, Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A, Willemsen, Rob, Devriendt, Koen, Belmont, John W, Oostra, Ben A, Amack, Jeffrey D, Bertoli-Avella, Aida M

“…RATIONALE:Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right…”
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ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype by Massadeh, Salam, Alhashem, Amal, Laar, Ingrid M.B.H., Alhabshan, Fahad, Ordonez, Natalia, Alawbathani, Salem, Khan, Suliman, Kabbani, Mohamed S., Chaikhouni, Farah, Sheereen, Atia, Almohammed, Iman, Alghamdi, Bader, Frohn‐Mulder, Ingrid, Ahmad, Salim, Beetz, Christian, Bauer, Peter, Wessels, Marja W., Alaamery, Manal, Bertoli‐Avella, Aida M.

“…Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary…”
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Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia by Lieve, Krystien V.V., Verhagen, Judith M.A., Wei, Jinhong, Bos, J. Martijn, van der Werf, Christian, Rosés i Noguer, Ferran, Mancini, Grazia M.S., Guo, Wenting, Wang, Ruiwu, van den Heuvel, Freek, Frohn-Mulder, Ingrid M.E., Shimizu, Wataru, Nogami, Akihiko, Horigome, Hitoshi, Roberts, Jason D., Leenhardt, Antoine, Crijns, Harry J.G., Blank, Andreas C., Aiba, Takeshi, Wiesfeld, Ans C.P., Blom, Nico A., Sumitomo, Naokata, Till, Jan, Ackerman, Michael J., Chen, S.R. Wayne, van de Laar, Ingrid M.B.H., Wilde, Arthur A.M.

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon inherited arrhythmia disorder characterized by adrenergically evoked ventricular…”
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A case report on endarteritis in a child with coarctation of aorta by Gnanam, Devi, Bartelds, Beatrijs, van Leeuwen, Wouter J, Frohn‐Mulder, Ingrid M., Koopman, Laurens P.

“…Coarctation of aorta(CoA), complicated by endarteritis in a children is very rare. Here we present a case of endarteritis in an unoperated CoA in a four year…”
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Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI by Brands, Marion M. M. G., Frohn-Mulder, Ingrid M., Hagemans, Marloes L. C., Hop, Wim C. J., Oussoren, Esmee, Helbing, Wim A., van der Ploeg, Ans T.

“…We determined the cardiologic features of children with MPS I, II and VI, and evaluated the effect of enzyme-replacement therapy (ERT) on cardiac disease…”
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Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy by Demirdas, Serwet, van Slegtenhorst, Marjon A., Verdijk, Robert M., Lee, Max, van den Hout, Hannerieke M.P., Wessels, Marja W., Frohn-Mulder, Ingrid M.E., Gardeitchik, Thatjana, van der Ploeg, Ans T., Schaaf, Gerben J.

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Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome by Verhagen, Judith M A, van den Born, Myrthe, Kurul, Serife, Asimaki, Angeliki, van de Laar, Ingrid M B H, Frohn-Mulder, Ingrid M E, Kammeraad, Janneke A E, Yap, Sing C, Bartelings, Margot M, van Slegtenhorst, Marjon A, von der Thüsen, Jan H, Wessels, Marja W

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A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p by Wessels, Marja W., De Graaf, Bianca M., Cohen-Overbeek, Titia E., Spitaels, Silja E., de Groot-de Laat, Lotte E., Ten Cate, Folkert J., Frohn-Mulder, Ingrid F. M., de Krijger, Ronald, Bartelings, Margot M., Essed, Nienke, Wladimiroff, Jury W., Niermeijer, Martinus F., Heutink, Peter, Oostra, Ben A., Dooijes, Dennis, Bertoli-Avella, Aida M., Willems, Patrick J.

“…We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not…”
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Low agreement between cardiologists diagnosing left ventricular hypertrophy in children with end-stage renal disease by Schoenmaker, Nikki J, van der Lee, Johanna H, Groothoff, Jaap W, van Iperen, Gabrielle G, Frohn-Mulder, Ingrid M E, Tanke, Ronald B, Ottenkamp, Jaap, Kuipers, Irene M

“…Monitoring of the appearance of left ventricular hypertrophy (LVH) by echocardiography is currently recommended for in the management of children with…”
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Autosomal dominant inheritance of left ventricular outflow tract obstruction by Wessels, Marja W., Berger, Rolf M.F., Frohn-Mulder, Ingrid M.E., Roos-Hesselink, Jolien W., Hoogeboom, Jeanette J.M., Mancini, Grazia S., Bartelings, Margot M., Krijger, Ronald de, Wladimiroff, Jury W., Niermeijer, Martinus F., Grossfeld, Paul, Willems, Patrick J.

“…Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been…”
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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects by Wessels, Marja W, Herkert, Johanna C, Frohn-Mulder, Ingrid M, Dalinghaus, Michiel, van den Wijngaard, Arthur, de Krijger, Ronald R, Michels, Michelle, de Coo, Irenaeus Fm, Hoedemaekers, Yvonne M, Dooijes, Dennis

“…Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated…”
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Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase by van Capelle, Carine I., Poelman, Esther, Frohn-Mulder, Ingrid M., Koopman, Laurens P., van den Hout, Johanna M.P., Régal, Luc, Cools, Bjorn, Helbing, Wim A., van der Ploeg, Ans T.

“…Cardiac failure is the main cause of death in untreated classic infantile Pompe disease, an inheritable metabolic myopathy characterized by progressive…”
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Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families by Kerstjens-Frederikse, Wilhelmina S., van de Laar, Ingrid M.B.H., Vos, Yvonne J., Verhagen, Judith M.A., Berger, Rolf M.F., Lichtenbelt, Klaske D., Klein Wassink-Ruiter, Jolien S., van der Zwaag, Paul A., du Marchie Sarvaas, Gideon J., Bergman, Klasien A., Bilardo, Catia M., Roos-Hesselink, Jolien W., Janssen, Johan H.P., Frohn-Mulder, Ingrid M., van Spaendonck-Zwarts, Karin Y., van Melle, Joost P., Hofstra, Robert M.W., Wessels, M.W.

“…Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes…”
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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy by Almomani, Rowida, PhD, Verhagen, Judith M.A., MD, Herkert, Johanna C., MD, Brosens, Erwin, PhD, van Spaendonck-Zwarts, Karin Y., MD, PhD, Asimaki, Angeliki, PhD, van der Zwaag, Paul A., MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Bertoli-Avella, Aida M., MD, PhD, Boven, Ludolf G., BSc, van Slegtenhorst, Marjon A., PhD, van der Smagt, Jasper J., MD, van IJcken, Wilfred F.J., PhD, Timmer, Bert, MD, PhD, van Stuijvenberg, Margriet, MD, PhD, Verdijk, Rob M., MD, PhD, Saffitz, Jeffrey E., MD, PhD, du Plessis, Frederik A., MD, Michels, Michelle, MD, PhD, Hofstra, Robert M.W., PhD, Sinke, Richard J., PhD, van Tintelen, J. Peter, MD, PhD, Wessels, Marja W., MD, PhD, Jongbloed, Jan D.H., PhD, van de Laar, Ingrid M.B.H., MD, PhD

“…Abstract Background Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding…”
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