Prenatal and foetal autopsy findings in glutaric aciduria type II von Martinez‐Aracil, Adriano, Ruiz‐Onandi, Rebeca, Perez‐Rodriguez, Alvaro, Sagasta, Amaia, Llano‐Rivas, Isabel, Perez de Nanclares, Guiomar

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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players von Domingo-Gallego, Andrea, Pybus, Marc, Bullich, Gemma, Furlano, Mónica, Ejarque-Vila, Laia, Lorente-Grandoso, Laura, Ruiz, Patricia, Fraga, Gloria, López González, Mercedes, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Llano-Rivas, Isabel, Sáez, Raquel, Bujons-Tur, Anna, Ariceta, Gema, Guirado, Lluis, Torra, Roser, Ars, Elisabet

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correla... von Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

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In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males von Parrini, Elena, Rivas, Isabel Llano, Toral, Joaquin Fernandez, Pucatti, Daniela, Giglio, Sabrina, Mei, Davide, Guerrini, Renzo

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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed? von Manero-Azua, Africa, Pereda, Arrate, Llano-Rivas, Isabel, Garin, Intza, Perez de Nanclares, Guiomar

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Le... von Hirata, Yasuko, Brems, Hilde, Suzuki, Mayu, Kanamori, Mitsuhiro, Okada, Masahiro, Morita, Rimpei, Llano-Rivas, Isabel, Ose, Toyoyuki, Messiaen, Ludwine, Legius, Eric, Yoshimura, Akihiko

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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome von Villate, Olatz, Maortua, Hiart, Tejada, María-Isabel, Llano-Rivas, Isabel

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis von Pangrazio, Alessandra, Puddu, Alessandro, Oppo, Manuela, Valentini, Maria, Zammataro, Luca, Vellodi, Ashok, Gener, Blanca, Llano-Rivas, Isabel, Raza, Jamal, Atta, Irum, Vezzoni, Paolo, Superti-Furga, Andrea, Villa, Anna, Sobacchi, Cristina

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing von Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report von Vado, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar

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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date von Martínez-Fernández, María Luisa, Fernández-Toral, Joaquin, Llano-Rivas, Isabel, Bermejo-Sánchez, Eva, MacDonald, Alexandra, Martínez-Frías, María Luisa

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A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome von Miñones-Suárez, Lorena, Mas-Vidal, Alberto, Fernandez-Toral, Joaquin, Llano-Rivas, Isabel, González-García, Manuel

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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases von Bullich, Gemma, Domingo-Gallego, Andrea, Vargas, Iván, Ruiz, Patricia, Lorente-Grandoso, Laura, Furlano, Mónica, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Borregán, Mar, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Ballesta-Martínez, Maria Juliana, Llano-Rivas, Isabel, Meñica, Mireia Aguirre, Ballarín, José, Torrents, David, Torra, Roser, Ars, Elisabet

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Novel APOB mutation in familial hypobetalipoproteinemia von Domenech, M., Llano-Rivas, Isabel, Arroyo, Vicente, Ortega, Emilio

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Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion von Vado, Yerai, Pereda, Arrate, Llano-Rivas, Isabel, Gorria-Redondo, Nerea, Díez, Ignacio, Perez de Nanclares, Guiomar

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P87-F Severe congenital myopathy related to a novel mutation in the titin gene. A case report von Sánchez-Horvath, Miriam, Marcelino-Salas, Keyla, Llano-Rivas, Isabel, Martínez González, María Jesús, García-Ribes, Ainhoa, Fernández-Bedoya, Ana Isabel, Martínez-Zuluaga, Ana, San Martín, Imanol Lambarri, Yurrebaso-Santamaría, Izaskun

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants von Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Pereda, Arrate, Parrón-Pajares, Manuel, de la Torre, Carolina, Vasques, Gabriela A, Funari, Mariana F A, Travessa, André M, Dias, Patrícia, Suarez-Ortega, Larisa, González-Buitrago, Jesús, Portillo-Najera, Nancy Elizabeth, Llano-Rivas, Isabel, Martín-Frías, María, Ramírez-Fernández, Joaquín, Sánchez Del Pozo, Jaime, Garzón-Lorenzo, Lucía, Martos-Moreno, Gabriel A, Alfaro-Iznaola, Cristina, Mulero-Collantes, Inés, Ruiz-Ocaña, Pablo, Casano-Sancho, Paula, Portela, Ana, Ruiz-Pérez, Lorea, Del Pozo, Angela, Vallespín, Elena, Solís, Mario, Lerario, Antônio M, González-Casado, Isabel, Ros-Pérez, Purificación, Pérez de Nanclares, Guiomar, Jorge, Alexander A L, Heath, Karen E

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

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants von Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A

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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas von Alba-Pavón, Piedad, Astigarraga, Itziar, Alaña, Lide, Llano-Rivas, Isabel, Gener, Blanca, Mosteiro, Lorena, López-Almaraz, Ricardo, Echebarria-Barona, Aizpea, Villate, Olatz

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