Browsing by Author Urreizti, Roser
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| Issue Date | Title | Author(s) |
|---|---|---|
| 18-Sep-2014 | A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDG | Delgado, M. A.; Martinez-Domenech, G.; Sarrión Pérez-Caballero, Patricia; Urreizti, Roser; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson de Kremer, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Asteggiano, Carla |
| 12-Jan-2018 | A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome | Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 10-Mar-2017 | A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes | Urreizti, Roser; Cueto Gonzalez, Anna Maria; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort Roca, Magda; Hecht, Jochen; Tizzano Ferrari, Eduardo; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 7-Sep-2022 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 | Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser |
| 18-Dec-2020 | Biomarcadores y genes relacionados con alteraciones en ganglios basales en la infancia | Martí Sánchez, Laura |
| 2-Mar-2019 | C syndrome - what do we know and what could the future hold? | Urreizti, Roser; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 22-Feb-2019 | Case report of a child bearing a novel deleterious splicing variant in PIGT | Manson, Samantha; Castilla Vallmanya, Laura; Con, James; Andrews, P. Ian; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Kirk, E.P.; Urreizti, Roser |
| 4-Nov-2021 | Combining exome sequencing and functional studies to identify causal genes of ultra-rare neurodevelopmental disorders | Castilla-Vallmanya, Laura |
| 4-Feb-2021 | De Novo PORCN and ZIC2 mutations in a highly consanguineous family | Castilla Vallmanya, Laura; Gürsoy, Semra; Giray Bozkaya, Özlem; Prat Planas, Aina; Bullich, Gemma; Matalonga Borrel, Lesley; Centeno Pla, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
| Jan-2020 | DPH1 syndrome: Two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients | Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A.L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg Vaisman, Daniel Raúl; Brinkmann, Ulrich; Webb, Bryn D.; Balcells Comas, Susana |
| 2018 | Estudios funcionales de variantes de DKK1 presentes en la población general | Martínez-Gil, Núria; Roca Ayats, Neus; Vilardell, M.; Civit Vives, Sergi; Urreizti, Roser; Garcia Giralt, Natàlia; Mellibovsky, Leonardo; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| Jan-2020 | Extending the phenotypic spectrum of Bohring-Opitz syndrome: mild case confirmed by functional studies | Leon, Eyby; Diaz, Jullianne; Castilla-Vallmanya, Laura; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
| 1-Jul-2023 | Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number | Oliva, Clara; Arias, Ángela; Ruiz, Montserrat;; Pujol Onofre, Aurora; Garrabou Tornos, Glòria; Cantó Santos, Judith; Urreizti, Roser; Castilla Vallmanya, Laura; Rodríguez González, Helena; Jou, Cristina; Casado Río, Mercedes; Ormazabal Herrero, Aida; Artuch Iriberri, Rafael |
| 10-Feb-2020 | Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Urreizti, Roser; López-Martin, Estrella; Martínez-Monseny, Antonio; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez-Jurado, Luis Alberto; Serrano, Mercedes; Natera de Benito, Daniel; Martínez-Delgado, Beatriz; Posada-de-la-Paz, Manuel; Alonso, Javier; Marin-Reina, Purificación; O'Callaghan, Mar; Grinberg Vaisman, Daniel Raúl; Bermejo-Sánchez, Eva; Balcells Comas, Susana |
| 15-Apr-2014 | Genetic analysis of high bone mass cases from the BARCOS cohort of spanish postmenopausal women | Sarrión Pérez-Caballero, Patricia; Mellibovsky, Leonardo; Urreizti, Roser; Civit Vives, Sergi; Cols Coll, Neus; Garcia Giralt, Natàlia; Yoskovitz, Guy; Aranguren, Alvaro; Malouf, Jorge; Di Gregorio, Silvana; Río, Luis del; Güerri-Fernández, Robert; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 15-Apr-2012 | Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture | Balcells Comas, Susana; Urreizti, Roser |
| 4-May-2017 | GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates | Roca Ayats, Neus; Balcells Comas, Susana; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Martinez-Gil, Nuria; Abril Ferrando, Josep Francesc, 1970-; Urreizti, Roser; Dopazo, Joaquin; Quesada Gómez, José Manuel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Prieto-Alhambra, Daniel; Dunford, James E.; Javaid, Muhammad K.; Russell, R. Graham; Grinberg Vaisman, Daniel Raúl; Diez Pérez, Adolfo |
| 21-Apr-2011 | Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients | Cozar, Mónica; Urreizti, Roser; Vilarinho, Laura; Grosso, Carola; Dodelson de Kremer, Raquel; Asteggiano, Carla; Dalmau Obrador, Josep; García, Ana; Vilaseca, María; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
| 1-Sep-2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga Borrel, Lesley; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert Jan; Lochmüller, Hanns; Beltrán, Sergi; RD-Connect Genome-Phenome Analysis Platform and UR; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria |