Search Results - "Marcelis, Carlo L. M."

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies by De Vos, Winnok H., Houben, Frederik, Kamps, Miriam, Malhas, Ashraf, Verheyen, Fons, Cox, Juliën, Manders, Erik M.M., Verstraeten, Valerie L.R.M., van Steensel, Maurice A.M., Marcelis, Carlo L.M., van den Wijngaard, Arthur, Vaux, David J., Ramaekers, Frans C.S., Broers, Jos L.V.

“…The nuclear lamina provides structural support to the nucleus and has a central role in nuclear organization and gene regulation. Defects in its constituents,…”
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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases by Neveling, Kornelia, Feenstra, Ilse, Gilissen, Christian, Hoefsloot, Lies H., Kamsteeg, Erik-Jan, Mensenkamp, Arjen R., Rodenburg, Richard J. T., Yntema, Helger G., Spruijt, Liesbeth, Vermeer, Sascha, Rinne, Tuula, van Gassen, Koen L., Bodmer, Danielle, Lugtenberg, Dorien, de Reuver, Rick, Buijsman, Wendy, Derks, Ronny C., Wieskamp, Nienke, van den Heuvel, Bert, Ligtenberg, Marjolijn J.L., Kremer, Hannie, Koolen, David A., van de Warrenburg, Bart P.C., Cremers, Frans P.M., Marcelis, Carlo L.M., Smeitink, Jan A.M., Wortmann, Saskia B., van Zelst-Stams, Wendy A.G., Veltman, Joris A., Brunner, Han G., Scheffer, Hans, Nelen, Marcel R.

“…ABSTRACT The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that…”
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Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study by van de Putte, Romy, van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Guo, Michel, Brunner, Han G., Addor, Marie-Claude, Cavero-Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Kurinczuk, Jenny J., Lanzoni, Monica, Latos-Bielenska, Anna, Luyt, Karen, O’Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak-Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, de Walle, Hermien E. K., Roeleveld, Nel, Bergman, Jorieke E. H.

“…Background The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association…”
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Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation by Verstraeten, Valerie L.R.M., Broers, Jos L.V., van Steensel, Maurice A.M., Zinn-Justin, Sophie, Ramaekers, Frans C.S., Steijlen, Peter M., Kamps, Miriam, Kuijpers, Helma J.H., Merckx, Diane, Smeets, Hubert J.M., Hennekam, Raoul C.M., Marcelis, Carlo L.M., van den Wijngaard, Arthur

“…LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical…”
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PLS3 Mutations in X-Linked Osteoporosis with Fractures by van Dijk, Fleur S, Zillikens, M. Carola, Micha, Dimitra, Riessland, Markus, Marcelis, Carlo L.M, de Die-Smulders, Christine E, Milbradt, Janine, Franken, Anton A, Harsevoort, Arjan J, Lichtenbelt, Klaske D, Pruijs, Hans E, Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M, Bakker, Astrid D, Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J, Verkerk, Annemieke J.M.H, Uitterlinden, André G, Maugeri, Alessandra, Sistermans, Erik A, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde, Simon, Marleen E.H, Pals, Gerard

“…The authors report data from five families with pathogenic variants in the gene for plastin 3, PLS3. Findings in these families and in zebrafish indicate that…”
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Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias by van de Putte, Romy, Wijers, Charlotte H. W., de Blaauw, Ivo, Feitz, Wout F. J., Marcelis, Carlo L. M., Hakobjan, Marina, Sloots, Cornelius E. J., van Bever, Yolande, Brunner, Han G., Roeleveld, Nel, van Rooij, Iris A. L. M., van der Zanden, Loes F. M.

“…Anorectal malformations (ARM) are rare congenital malformations of the gastrointestinal tract. Approximately 60 % of the patients have additional congenital…”
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Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review by Wijers, Charlotte H. W., van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Brunner, Han G., de Blaauw, Ivo, Roeleveld, Nel

“…Congenital anorectal malformations (ARMs) are one of the most frequently observed birth defects of the digestive system. However, their etiology remains…”
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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers by Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur

“…Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in…”
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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations by van de Putte, Romy, Wijers, Charlotte H W, Reutter, Heiko, Vermeulen, Sita H, Marcelis, Carlo L M, Brosens, Erwin, Broens, Paul M A, Homberg, Markus, Ludwig, Michael, Jenetzky, Ekkehart, Zwink, Nadine, Sloots, Cornelius E J, de Klein, Annelies, Brooks, Alice S, Hofstra, Robert M W, Holsink, Sophie A C, van der Zanden, Loes F M, Galesloot, Tessel E, Tam, Paul Kwong-Hang, Steehouwer, Marloes, Acuna-Hidalgo, Rocio, Vorst, Maartje van de, Kiemeney, Lambertus A, Garcia-Barceló, Maria-Mercè, de Blaauw, Ivo, Brunner, Han G, Roeleveld, Nel, van Rooij, Iris A L M

“…Anorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but…”
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Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted by van den Hondel, Desiree, Wijers, Charlotte H. W., van Bever, Yolande, de Klein, Annelies, Marcelis, Carlo L. M., de Blaauw, Ivo, Sloots, Cornelius E. J., IJsselstijn, Hanneke

“…The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in…”
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High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy by Gommans, D. H. Frank, Cramer, G. Etienne, Bakker, Jeannette, Dieker, Hendrik-Jan, Michels, Michelle, Fouraux, Michael A., Marcelis, Carlo L. M., Verheugt, Freek W. A., Timmermans, Janneke, Brouwer, Marc A., Kofflard, Marcel J. M.

“…In search of improved risk stratification in hypertrophic cardiomyopathy (HCM), CMR imaging has been implicated as a potential tool for prediction of sudden…”
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Prediction of Extensive Myocardial Fibrosis in Nonhigh Risk Patients With Hypertrophic Cardiomyopathy by Gommans, D.H. Frank, Cramer, G. Etienne, Fouraux, Michael A., Bakker, Jeannette, Michels, Michelle, Dieker, Hendrik-Jan, Timmermans, Janneke, Marcelis, Carlo L.M., Verheugt, Freek W.A., de Boer, Menko-Jan, Kofflard, Marcel J.M., de Boer, Rudolf A., Brouwer, Marc A.

“…In nonhigh risk patients with hypertrophic cardiomyopathy (HC), the presence of extensive late gadolinium enhancement (LGEext) at cardiovascular magnetic…”
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Constructing "best interests": Genetic testing of children in families with hypertrophic cardiomyopathy by Geelen, Els, Van Hoyweghen, Ine, Doevendans, Pieter A., Marcelis, Carlo L.M., Horstman, Klasien

“…Professional guidelines on genetic testing of children have recently shifted their focus from protecting the child's autonomous choice to professionals,…”
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Genotype-phenotype correlations in MYCN-related Feingold syndrome by Marcelis, Carlo L.M, Hol, Frans A, Graham, Gail E, Rieu, Paul N.M.A, Kellermayer, Richard, Meijer, Rowdy P.P, Lugtenberg, Dorien, Scheffer, Hans, van Bokhoven, Hans, Brunner, Han G, de Brouwer, Arjan P.M

“…Feingold syndrome (FS) is the most frequent cause of familial syndromic gastrointestinal atresia and follows autosomal dominant inheritance. FS is caused by…”
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Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations by Wijers, Charlotte H. W., de Blaauw, Ivo, Marcelis, Carlo L. M., Wijnen, Rene M. H., Brunner, Han, Midrio, Paola, Gamba, Piergiorgio, Clementi, Maurizio, Jenetzky, Ekkehart, Zwink, Nadine, Reutter, Heiko, Bartels, Enrika, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Hosie, Stuart, Märzheuser, Stefanie, Schmiedeke, Eberhard, Crétolle, Célia, Sarnacki, Sabine, Levitt, Marc A., Knoers, Nine V. A. M., Roeleveld, Nel, van Rooij, Iris A. L. M.

“…Purpose The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of…”
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Maternal risk factors for the VACTERL association: A EUROCAT case–control study by Putte, Romy, Rooij, Iris A.L.M., Haanappel, Cynthia P., Marcelis, Carlo L.M., Brunner, Han G., Addor, Marie‐Claude, Cavero‐Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Khoshnood, Babak, Kinsner‐Ovaskainen, Agnieszka, Klungsoyr, Kari, Kurinczuk, Jenny J., Latos‐Bielenska, Anna, Luyt, Karen, O'Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak‐Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, Walle, Hermien E.K., Bergman, Jorieke E.H., Roeleveld, Nel

“…Background The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac,…”
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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association by Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C, Hwang, Daw-Yang, Yung Gee, Heon, Dworschak, Gabriel C, Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S, Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L M, Wijers, Charlotte H W, Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöthen, Markus M, Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G, Solomon, Benjamin D, de Klein, Annelies, van Rooij, Iris A L M, Esposito, Franca, Reutter, Heiko M, Hildebrandt, Friedhelm

“…Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most…”
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The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress by Verstraeten, Valerie L.R.M., Caputo, Sandrine, Van Steensel, Maurice A.M., Duband‐Goulet, Isabelle, Zinn‐Justin, Sophie, Kamps, Miriam, Kuijpers, Helma J.H., Östlund, Cecilia, Worman, Howard J., Briedé, Jacob J., Le Dour, Caroline, Marcelis, Carlo L.M., Van Geel, Michel, Steijlen, Peter M., Van Den Wijngaard, Arthur, Ramaekers, Frans C.S., Broers, Jos L.V.

“…Dunnigan‐type familial partial lipodystrophy (FPLD) is a laminopathy characterized by an aberrant fat distribution and a metabolic syndrome for which oxidative…”
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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks by Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael

“…Abstract Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on…”
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First results of a European multi-center registry of patients with anorectal malformations by de Blaauw, Ivo, Wijers, Charlotte H.W, Schmiedeke, Eberhard, Holland-Cunz, Stefan, Gamba, Piergiorgio, Marcelis, Carlo L.M, Reutter, Heiko, Aminoff, Dalia, Schipper, Muriel, Schwarzer, Nicole, Grasshoff-Derr, Sabine, Midrio, Paola, Jenetzky, Ekkehart, van Rooij, Iris A.L.M

“…Abstract Background The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic…”
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