Výsledky vyhledávání - Gener, Blanca

Suitability and limitations of mesenchymal stem cells to elucidate human bone illness Autor Mitxitorena, Izaskun, Infante, Arantza, Gener, Blanca, Rodríguez, Clara I

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Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy Autor Infante, Arantza, Cabodevilla, Leire, Gener, Blanca, Rodríguez, Clara I.

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Brachydactyly E: isolated or as a feature of a syndrome Autor Pereda, Arrate, Garin, Intza, Garcia-Barcina, Maria, Gener, Blanca, Beristain, Elena, Ibañez, Ane Miren, Perez de Nanclares, Guiomar

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Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration Autor Cuscó, Ivon, del Campo, Miguel, Vilardell, Mireia, González, Eva, Gener, Blanca, Galán, Enrique, Toledo, Laura, Pérez-Jurado, Luis A

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report Autor 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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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder Autor Cuscó, Ivon, Medrano, Andrés, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fátima, Villa, Olaya, González, Eva, Rodríguez-Santiago, Benjamín, Vilella, Elisabet, Del Campo, Miguel, Pérez-Jurado, Luis A.

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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability Autor Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis() Autor 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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Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial Autor Infante, Arantza, Gener, Blanca, Vázquez, Miguel, Olivares, Nerea, Arrieta, Arantza, Grau, Gema, Llano, Isabel, Madero, Luis, Bueno, Ana Maria, Sagastizabal, Belén, Gerovska, Daniela, Araúzo‐Bravo, Marcos J, Astigarraga, Itziar, Rodríguez, Clara I.

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Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders Autor Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon

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Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia Autor Tarilonte, María, Morín, Matías, Ramos, Patricia, Galdós, Marta, Blanco-Kelly, Fiona, Villaverde, Cristina, Rey-Zamora, Dolores, Rebolleda, Gema, Muñoz-Negrete, Francisco J., Tahsin-Swafiri, Saoud, Gener, Blanca, Moreno-Pelayo, Miguel-Angel, Ayuso, Carmen, Villamar, Manuela, Corton, Marta

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Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 Autor McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol

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Mutations in HPSE2 Cause Urofacial Syndrome Autor Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

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Mutations in HPSE2 Cause Urofacial Syndrome Autor Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

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Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome Autor Rice, Gillian I., Reijns, Martin A.M., Coffin, Stephanie R., Forte, Gabriella M.A., Anderson, Beverley H., Szynkiewicz, Marcin, Gornall, Hannah, Gent, David, Leitch, Andrea, Botella, Maria P., Fazzi, Elisa, Gener, Blanca, Lagae, Lieven, Olivieri, Ivana, Orcesi, Simona, Swoboda, Kathryn J., Perrino, Fred W., Jackson, Andrew P., Crow, Yanick J.

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Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability Autor Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O’Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Autor 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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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly Autor Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features Autor Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features Autor Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.

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