Marfan syndrome in childhood: parents’ perspectives of the impact on daily functioning of children, parents and family; a qualitative study

por Warnink-Kavelaars, Jessica, Beelen, Anita, Dekker, Sarah, Nollet, Frans, Menke, Leonie A., Engelbert, Raoul H. H.
Publicado 2019

Parenting a child with Marfan syndrome: Distress and everyday problems

por Warnink‐Kavelaars, Jessica, van Oers, Hedy A., Haverman, Lotte, Buizer, Annemieke I., Alsem, Mattijs W., Engelbert, Raoul H. H., Menke, Leonie A.
Publicado 2020

Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

por Warnink-Kavelaars, Jessica, de Koning, Lisanne E., Rombaut, Lies, Alsem, Mattijs W., Menke, Leonie A., Oosterlaan, Jaap, Buizer, Annemieke I., Engelbert, Raoul H. H.
Publicado 2021

Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs

por Warnink-Kavelaars, Jessica, Beelen, Anita, Goedhart, Tine M. H. J., de Koning, Lisanne E., Nollet, Frans, Alsem, Mattijs W., Menke, Leonie A., Engelbert, Raoul H. H.
Publicado 2019

Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health

por Warnink‐Kavelaars, Jessica, de Koning, Lisanne E., Rombaut, Lies, Menke, Leonie A., Alsem, Mattijs W., van Oers, Hedy A., Buizer, Annemieke I., Engelbert, Raoul H. H., Oosterlaan, Jaap
Publicado 2022

Growth of the aortic root in children and young adults with Marfan syndrome

por van Elsäcker, Elroy, Vink, Arja S, Menke, Leonie A, Pals, Gerard, Bokenkamp, Regina, Backx, Ad C P M, Hilhorst-Hofstee, Yvonne, Blom, Nicolaas A, van der Hulst, Annelies E
Publicado 2022

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

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

por Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Publicado 2020

Primrose syndrome: Characterization of the phenotype in 42 patients

por Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.
Publicado 2020

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

por Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.
Publicado 2018

Further delineation of Malan syndrome

por Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.
Publicado 2018

Natural history of KBG syndrome in a large European cohort

por Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2022

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

por Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim
Publicado 2021