Search Results - "van den Bersselaar, Lisa M."

Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization by Ruijmbeek, Claudine W.B., Housley, Filomena, Idrees, Hafiza, Housley, Michael P., Pestel, Jenny, Keller, Leonie, Lai, Jason K.H., der Linde, Herma C. van, Willemsen, Rob, Piesker, Janett, Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Dalinghaus, Michiel, den Bersselaar, Lisa M. van, van Slegtenhorst, Marjon A., Tessadori, Federico, Bakkers, Jeroen, van Ham, Tjakko J., Stainier, Didier Y.R., Verhagen, Judith M.A., Reischauer, Sven

“…Pediatric cardiomyopathy (CM) represents a group of rare, severe disorders that affect the myocardium. To date, the etiology and mechanisms underlying…”
Get full text

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation by de Wagenaar, Nathalie P, van den Bersselaar, Lisa M, Odijk, Hanny J H M, Stefens, Sanne J M, Reinhardt, Dieter P, Roos-Hesselink, Jolien W, Kanaar, Roland, Verhagen, Judith M A, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, van der Pluijm, Ingrid, Essers, Jeroen

“…Pathogenic (P)/likely pathogenic (LP) SMAD3 variants cause Loeys-Dietz syndrome type 3 (LDS3), which is characterized by arterial aneurysms, dissections and…”
Get full text

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort by van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H.

Get full text

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort by van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H.

“…Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This…”
Get full text

Bi-allelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization by Ruijmbeek, Claudine Wb, Housley, Filomena, Idrees, Hafiza, Housley, Michael P, Pestel, Jenny, Keller, Leonie, Lai, Jason Kuan Han, van der Linde, Herma C, Willemsen, Rob, Piesker, Janett, Al-Hassnan, Zuhair N, Almesned, Abdulrahman, Dalinghaus, Michiel, van den Bersselaar, Lisa M, van Slegtenhorst, Marjon A, Tessadori, Federico, Bakkers, Jeroen, van Ham, Tjakko J, Stainier, Didier Yr, Verhagen, Judith Ma, Reischauer, Sven

“…Pediatric cardiomyopathy (CM) represents a group of rare, severe disorders that affect the myocardium. To date, the etiology and mechanisms underlying…”
Get full text

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients by Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, Houweling, Arjan C

“…Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous…”
Get full text