Browsing by Author Grinberg Vaisman, Daniel Raúl
Showing results 65 to 84 of 87
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| Issue Date | Title | Author(s) |
|---|---|---|
| 2021 | La variante missensers2908004 de WNT16 actúa como eQTL de FAM3C en osteoblastos primarios humanos | Martínez-Gil, Núria; Patiño, Juan David; Ugartondo Asensio, Nerea; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 10-Nov-2015 | MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones | De-Ugarte, Laura; Yoskovitz, Guy; Balcells Comas, Susana; Güerri-Fernández, Robert; Martínez-Díaz, Santos; Mellibovsky, Leonardo; Urreizti, Roser; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Garcia Giralt, Natàlia; Díez Pérez, Adolfo |
| 18-Dec-2015 | Models and therapeutic approaches for Niemann-Pick (A/B and C) and other lysosomal storage disorders | Gomez Grau, Marta |
| 9-Jul-2019 | Molecular determinants of human oocyte quality in assisted reproduction | Cornet Bartolomé, David |
| Feb-2020 | Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspition of RASopathy and children with multiple café-au-lait macules | Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel Moreno, Bernat; Alibés, Andreu; Baena, Neus; Pineda Marfà, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Vilageliu i Arqués, Lluïsa; Brems, Hilde; Grinberg Vaisman, Daniel Raúl; Legius, Eric; Serra Arenas, Eduard |
| 26-Feb-2013 | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas | Sarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, Pablo; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| 28-Feb-2020 | Neuronal and astrocytic differentiation from Sanfilippo C syndrome iPSCs for disease modeling and drug development | Benetó, Noelia; Cozar, Mónica; Castilla-Vallmanya, Laura; Zetterdahl, Oskar G.; Sacultanu, Madalina; Segur-Bailach, Eulalia; García-Morant, María; Ribes, Antonia; Ahlenius, Henrik; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Canals Montferrer, Isaac |
| 7-Feb-2017 | New murine Niemann-Pick type C models bearing a pseudoexongenerating mutation recapitulate the main neurobehavioural and molecular features of the disease | Gómez Grau, Marta; Albaigès, Júlia; Casas, Josefina; Auladell i Costa, M. Carme; Dierssen, Mara; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl |
| Jun-2022 | On the association between Chiari malformation type 1, bone mineral density and bone related genes | Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián.; Patiño, Juan David; Cozar, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 1999 | Patologia molecular de la malaltia de Gaucher | Grinberg Vaisman, Daniel Raúl; Cormand Rifà, Bru; Gort i Mas, Laura; Montfort Roca, Magda; Chabás Bergón, Amparo; Vilageliu i Arqués, Lluïsa |
| 30-Nov-2021 | Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques | Rauner, Martina; Foessl, Ines; Formosa, Melissa M.; Kague, Erika; Prijatelj, Vid; Alonso-Lopez, Nerea; Banerjee, Bodhisattwa; Bergen, Dylan; Busse, Björn; Calado, Ângelo; Douni, Eleni; Gabet, Yankel; Garcia Giralt, Natàlia; Grinberg Vaisman, Daniel Raúl; Lovsin, Nika M.; Nogués Solán, Xavier; Ostanek, Barbara; Pavlos, Nathan J.; Rivadeneira, Fernando; Soldatovic, Ivan; van de Peppel, Jeroen; van der Eerden, Bram; van Hul, Wim; Balcells Comas, Susana; Marc, Janja; Reppe, Sjur; Soe, Kent; Karasik, David |
| Sep-2020 | Pharmacological inhibition of soluble epoxide hydrolase protects cognitive impairment in a Niemann-Pick mice model | Companys Alemany, Júlia; Cozar, Mónica; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Codony Gisbert, Sandra; Vázquez Cruz, Santiago; Pallàs i Llibería, Mercè, 1964-; Griñán Ferré, Christian |
| 7-May-2020 | Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 | Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clémantine; Rabionet Janssen, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R.F.; van Essen, Antoine J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, J effrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser |
| 28-Nov-2018 | Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress | Ugarte, Laura de; Balcells Comas, Susana; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Díez Pérez, Adolfo; Garcia Giralt, Natalia |
| 12-Mar-2021 | Role of Wnt pathway genes in complex and monogenic phenotypes of low and high bone mass | Martínez-Gil, Núria |
| 22-Oct-2020 | Sanfilippo syndrome: molecular basis, disease models and therapeutic approaches | Benetó, Noelia; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
| Nov-2013 | Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies | Carreño, Oriel; Corominas Castiñeira, Roser; Serra, Selma Angèlica; Sintas Vives, Cèlia; Fernàndez Castillo, Noèlia; Vila Pueyo, Marta; Toma, Claudio; González Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg Vaisman, Daniel Raúl; Valverde, Miguel Ángel; Fernández-Fernández, José Manuel; Macaya Ruiz, Alfons; Cormand Rifà, Bru |
| 26-Mar-2021 | Soluble Epoxide Hydrolase Inhibition Ameliorates Phenotype and Cognitive Capabilities in a Murine Model of Niemann Pick Disease Type C | Griñán Ferré, Christian; Companys Alemany, Júlia; Jarne, Júlia; Codony Gisbert, Sandra; González Castillo, Celia; Ortuño Sahagún, Daniel; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Vázquez Cruz, Santiago; Pallàs i Llibería, Mercè, 1964- |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |
| 10-Jun-2018 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome | Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |