Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

door Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, López-González, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne
Gepubliceerd in 2013

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

door Pfarr, Nicole, Fischer, Christine, Ehlken, Nicola, Becker-Grünig, Tabea, López-González, Vanesa, Gorenflo, Matthias, Hager, Alfred, Hinderhofer, Katrin, Miera, Oliver, Nagel, Christian, Schranz, Dietmar, Grünig, Ekkehard
Gepubliceerd in 2013

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

door Ballesta-Martínez, María Juliana, Pérez-Fernández, Virginia, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Rodríguez-Peña, Lidia Isolina, Barreda-Sánchez, Maria, Armengol-Dulcet, Lluís, Guillén-Navarro, Encarna
Gepubliceerd in 2023

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

door Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Gepubliceerd in 2013

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

door Marakhonov, Andrey V., Voskresenskaya, Anna A., Ballesta, Maria Jose, Konovalov, Fedor A., Vasilyeva, Tatyana A., Blanco-Kelly, Fiona, Pozdeyeva, Nadezhda A., Kadyshev, Vitaly V., López-González, Vanesa, Guillen, Encarna, Ayuso, Carmen, Zinchenko, Rena A., Corton, Marta
Gepubliceerd in 2020

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

door Buendía-Martínez, Juan, Barreda-Sánchez, María, Rodríguez-Peña, Lidya, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Pérez-Tomás, María Elena, Gil-Ferrer, Remedios, Avilés-Plaza, Francisco, Glover-López, Guillermo, Carazo-Díaz, Carmen, Guillén-Navarro, Encarna
Gepubliceerd in 2021

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

door Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peña, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna
Gepubliceerd in 2019

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

door Martínez-Romero, María Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Barreda-Sánchez, María, Rodriguez-Peña, Lidya, Martínez-Menchon, María Teresa, Frías-Iniesta, José, Sánchez-Pedreño, Paloma, Carbonell-Meseguer, Pablo, Glover-López, Guillermo, Guillén-Navarro, Encarna
Gepubliceerd in 2019

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

door Kampmeier, Antje, Leitão, Elsa, Parenti, Ilaria, Beygo, Jasmin, Depienne, Christel, Bramswig, Nuria C, Hsieh, Tzung-Chien, Afenjar, Alexandra, Beck-Wödl, Stefanie, Grasshoff, Ute, Haack, Tobias B, Bijlsma, Emilia K, Ruivenkamp, Claudia, Lausberg, Eva, Elbracht, Miriam, Haanpää, Maria K, Koillinen, Hannele, Heinrich, Uwe, Rost, Imma, Jamra, Rami Abou, Popp, Denny, Koch-Hogrebe, Margarete, Rostasy, Kevin, López-González, Vanesa, Sanchez-Soler, María José, Macedo, Catarina, Schmetz, Ariane, Steinborn, Carmen, Weidensee, Sabine, Lesmann, Hellen, Marbach, Felix, Caro, Pilar, Schaaf, Christian P., Krawitz, Peter, Wieczorek, Dagmar, Kaiser, Frank J, Kuechler, Alma
Gepubliceerd in 2023

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

door Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Gepubliceerd in 2023

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

door van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Gepubliceerd in 2018

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

door van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Gepubliceerd in 2019