Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening

por van der Sluijs Veer, Liesbeth, Kempers, Marlies JE, Maurice-Stam, Heleen, Last, Bob F, Vulsma, Tom, Grootenhuis, Martha A
Publicado 2012

Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family

por Hassan, Samar Sabir, Kempers, Marlies, Lugtenberg, Dorien, Abdallah, Asmahan Tajelsir, Musa, Salwa Abdelbagi, Ibrahim, Areej Ahmed, Abdullah, Mohamed Ahmed
Publicado 2021

Differences in Aortopathy in Patients with a Bicuspid Aortic Valve with or without Aortic Coarctation

por Duijnhouwer, Anthonie, van den Hoven, Allard, Merkx, Remy, Schokking, Michiel, van Kimmenade, Roland, Kempers, Marlies, van Dijk, Arie, de Boer, Menko-Jan, Roos-Hesselink, Jolien
Publicado 2020

Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations

por Noordman, Iris D., Fejzic, Zina, Bos, Melanie, Duijnhouwer, Anthonie L., Weijers, Gert, Kempers, Marlies, Merkx, Remy, van der Velden, Janiëlle A. E. M., Kapusta, Livia
Publicado 2021

No QTc Prolongation in Girls and Women with Turner Syndrome

por Noordman, Iris D, Duijnhouwer, Anthonie L, Coert, Misty, Bos, Melanie, Kempers, Marlies, Timmers, Henri J L M, Fejzic, Zina, van der Velden, Janiëlle A E M, Kapusta, Livia
Publicado 2020

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

por Rodrigues Bento, Jotte, Feben, Candice, Kempers, Marlies, van Rij, Maartje, Woiski, Mallory, Devriendt, Koenraad, De Catte, Luc, Baldewijns, Marcella, Alaerts, Maaike, Meester, Josephina, Verstraeten, Aline, Hendson, Willy, Loeys, Bart
Publicado 2021

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

por Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
Publicado 2013

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

por Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J. E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L. I., van Aalten, Daan M. F., Lefeber, Dirk J.
Publicado 2017

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

por Van Gucht, Ilse, Krebsova, Alice, Diness, Birgitte Rode, Laga, Steven, Adlam, Dave, Kempers, Marlies, Samani, Nilesh J., Webb, Tom R., Baranowska, Ania A., Van Den Heuvel, Lotte, Perik, Melanie, Luyckx, Ilse, Peeters, Nils, Votypka, Pavel, Macek, Milan, Meester, Josephina, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.
Publicado 2021

Inflammation Aggravates Disease Severity in Marfan Syndrome Patients

por Radonic, Teodora, de Witte, Piet, Groenink, Maarten, de Waard, Vivian, Lutter, Rene, van Eijk, Marco, Jansen, Marnix, Timmermans, Janneke, Kempers, Marlies, Scholte, Arthur J., Hilhorst-Hofstee, Yvonne, van den Berg, Maarten P., van Tintelen, J. Peter, Pals, Gerard, Baars, Marieke J. H., Mulder, Barbara J. M., Zwinderman, Aeilko H.
Publicado 2012

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

por van de Laar, Ingrid M. B. H., Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie
Publicado 2019

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

por van Bever, Yolande, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E
Publicado 2020

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

por Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., van de Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A.
Publicado 2022

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

por Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra
Publicado 2018

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

por Beck, David B., Basar, Mohammed A., Asmar, Anthony J., Thompson, Joyce J., Oda, Hirotsugu, Uehara, Daniela T., Saida, Ken, Pajusalu, Sander, Talvik, Inga, D’Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W., Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J., Aksentijevich, Ivona, Kastner, Daniel L., Rocha, Pedro P., Werner, Achim
Publicado 2021

A mutation update for the FLNC gene in myopathies and cardiomyopathies

por Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., de Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., van Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, van Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, van den Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Publicado 2020

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

por Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O’Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B
Publicado 2012

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

por Gillis, Elisabeth, Kumar, Ajay A., Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A., Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A., Mital, Seema, Mertens, Luc, Björck, Hanna M., Franco-Cereceda, Anders, McCallion, Andrew S., Van Laer, Lut, Verhagen, Judith M. A., van de Laar, Ingrid M. B. H., Wessels, Marja W., Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C., Verstraeten, Aline, Loeys, Bart L.
Publicado 2017

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

por Gillis, Elisabeth, Kumar, Ajay A., Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A., Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A., Mital, Seema, Mertens, Luc, Björck, Hanna M., Franco-Cereceda, Anders, McCallion, Andrew S., Van Laer, Lut, Verhagen, Judith M. A., van de Laar, Ingrid M. B. H., Wessels, Marja W., Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C., Verstraeten, Aline, Loeys, Bart L.
Publicado 2017

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

por Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, van de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, van Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, van der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Van Laer, Lut, Loeys, Bart
Publicado 2018