In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males
Parrini, Elena, Rivas, Isabel Llano, Toral, Joaquin Fernandez, Pucatti, Daniela, Giglio, Sabrina, Mei, Davide, Guerrini, Renzo
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
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
Published in Nephrology, dialysis, transplantation (25.03.2022)
Published in Nephrology, dialysis, transplantation (25.03.2022)
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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 Correlation
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
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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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 Legius Syndrome and Neurofibromatosis Type 1
Hirata, Yasuko, Brems, Hilde, Suzuki, Mayu, Kanamori, Mitsuhiro, Okada, Masahiro, Morita, Rimpei, Llano-Rivas, Isabel, Ose, Toyoyuki, Messiaen, Ludwine, Legius, Eric, Yoshimura, Akihiko
Published in The Journal of biological chemistry (12.02.2016)
Published in The Journal of biological chemistry (12.02.2016)
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Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion
Vado, Yerai, Pereda, Arrate, Llano-Rivas, Isabel, Gorria-Redondo, Nerea, Díez, Ignacio, Perez de Nanclares, Guiomar
Published in Genes (05.12.2020)
Published in Genes (05.12.2020)
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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis
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
Published in Bone (New York, N.Y.) (01.02.2014)
Published in Bone (New York, N.Y.) (01.02.2014)
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
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
Published in Orphanet journal of rare diseases (22.03.2016)
Published in Orphanet journal of rare diseases (22.03.2016)
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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
Vado, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar
Published in BMC medical genomics (27.12.2018)
Published in BMC medical genomics (27.12.2018)
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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date
Martínez-Fernández, María Luisa, Fernández-Toral, Joaquin, Llano-Rivas, Isabel, Bermejo-Sánchez, Eva, MacDonald, Alexandra, Martínez-Frías, María Luisa
Published in American journal of medical genetics. Part A (01.09.2015)
Published in American journal of medical genetics. Part A (01.09.2015)
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A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome
Miñones-Suárez, Lorena, Mas-Vidal, Alberto, Fernandez-Toral, Joaquin, Llano-Rivas, Isabel, González-García, Manuel
Published in Pediatric dermatology (01.11.2012)
Published in Pediatric dermatology (01.11.2012)
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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
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
Published in Kidney international (01.08.2018)
Published in Kidney international (01.08.2018)
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Novel APOB mutation in familial hypobetalipoproteinemia
Domenech, M., Llano-Rivas, Isabel, Arroyo, Vicente, Ortega, Emilio
Published in Journal of clinical lipidology (01.01.2022)
Published in Journal of clinical lipidology (01.01.2022)
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Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Martinez-Cayuelas, Elena, Blanco-Kelly, Fiona, Lopez-Grondona, Fermina, Swafiri, Saoud Tahsin, Lopez-Rodriguez, Rosario, Losada-Del Pozo, Rebeca, Mahillo-Fernandez, Ignacio, Moreno, Beatriz, Rodrigo-Moreno, Maria, Casas-Alba, Didac, Lopez-Gonzalez, Aitor, García-Miñaúr, Sixto, Ángeles Mori, Maria, Pacio-Minguez, Marta, Rikeros-Orozco, Emi, Santos-Simarro, Fernando, Cruz-Rojo, Jaime, Quesada-Espinosa, Juan Francisco, Sanchez-Calvin, Maria Teresa, Sanchez-del Pozo, Jaime, Bernado Fonz, Raquel, Isidoro-Garcia, Maria, Ruiz-Ayucar, Irene, Alvarez-Mora, Maria Isabel, Blanco-Lago, Raquel, De Azua, Begoña, Eiris, Jesus, Garcia-Peñas, Juan Jose, Gil-Fournier, Belen, Gomez-Lado, Carmen, Irazabal, Nadia, Lopez-Gonzalez, Vanessa, Madrigal, Irene, Malaga, Ignacio, Martinez-Menendez, Beatriz, Ramiro-Leon, Soraya, Garcia-Hoyos, Maria, Prieto-Matos, Pablo, Lopez-Pison, Javier, Aguilera-Albesa, Sergio, Alvarez, Sara, Fernández-Jaén, Alberto, Llano-Rivas, Isabel, Gener-Querol, Blanca, Ayuso, Carmen, Arteche-Lopez, Ana, Palomares-Bralo, Maria, Cueto-González, Anna, Valenzuela, Irene, Martinez-Monseny, Antonio, Lorda-Sanchez, Isabel, Almoguera, Berta
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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El síndrome CHARGE
Lobete Prieto, Carlos Javier, Llano Rivas, Isabel, Fernández Toral, Joaquín, Madero Barrajón, Pilar
Published in Archivos argentinos de pediatría (01.02.2010)
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Published in Archivos argentinos de pediatría (01.02.2010)
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P87-F Severe congenital myopathy related to a novel mutation in the titin gene. A case report
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
Published in Clinical neurophysiology (01.07.2019)
Published in Clinical neurophysiology (01.07.2019)
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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
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
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Alba-Pavón, Piedad, Astigarraga, Itziar, Alaña, Lide, Llano-Rivas, Isabel, Gener, Blanca, Mosteiro, Lorena, López-Almaraz, Ricardo, Echebarria-Barona, Aizpea, Villate, Olatz
Published in Translational pediatrics (01.09.2023)
Published in Translational pediatrics (01.09.2023)
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