Browsing by Subject Genètica mèdica
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| Issue Date | Title | Author(s) |
|---|---|---|
| 2-Oct-2018 | Piloting the implementation of genome-phenome analysis tools for Personalised Medicine (Seminaris Tecnològics 2018) | Beltran i Agulló, Sergi |
| 12-Sep-2012 | Plasma homocysteine and vitamin B12 serum levels, red blood cell folate concentrations, C677T methylenetetrahydrofolate reductase gene mutation and risk of recurrent miscarriage: a case-control study in Spain. | Creus Ferré, Montserrat; Deulofeu i Piquet, Ramon; Peñarrubia, Joanna; Carmona Herrera, Francisco; Balasch Cortina, Juan |
| 17-Sep-2021 | Pleiotropic effects of candidate genes on autism spectrum disorder and comorbidities: genetics, funcional studies and animal models | Antón Galindo, Ester |
| 18-Feb-2014 | Polygenic determinants of white matter volume derived from GWAS lack reproducibility in a replicate sample | Papiol, S.; Mitjans Niubó, Marina; Assogna, F.; Piras, F.; Hammer, C.; Caltagirone, Carlo; Arias Sampériz, Bárbara; Ehrenreich, H.; Spalleta, G. |
| 9-Dec-2015 | Prevalence of MITF p.E318K in patients with melanoma independent of the presence of CDKN2A causative mutations | Potrony Mateu, Míriam; Puig Butillé, Joan Anton; Aguilera, Paula; Badenas Orquin, Celia; Tell Martí, Gemma; Carrera Álvarez, Cristina; Del Pozo, Luis Javier; Conejo Mir, Julian; Malvehy, J. (Josep); Puig i Sardà, Susana |
| 19-Jan-2015 | Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways | Cormand Rifà, Bru; Psychiatric Genomics Consortium |
| 17-Aug-2017 | psygenet2r: a R/Bioconductor package for the analysis of psychiatric disease genes | Gutiérrez Sacristán, Alba; Hernández Ferrer, Carles; González, Juan Ramón; Furlong, Laura I. |
| 19-Nov-2021 | Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome | Remuzgo Martínez, Sara; Atienza Mateo, Belén; Ocejo Vinyals, J. Gonzalo; Genre, Fernanda; Pulito Cueto, Verónica; Mora Cuesta, Víctor M.; Iturbe Fernández, David; Lera Gómez, Leticia; Pérez Fernández, Raquel; Prieto Peña, Diana; Irure, Juan; Romero Bueno, Fredeswinda; Sanchez Pernaute, Olga; Alonso Moralejo, Rodrigo; Nuño, Laura; Bonilla, Gema; Vicente Rabaneda, Esther F.; Grafia, Ignacio; Prieto González, Sergio; Narváez, Javier; Trallero Araguas, Ernesto; Selva O’Callaghan, Albert; Ortego Centeno, Norberto; Pérez Gómez, Nair; Mera, Antonio; Martínez Barrio, Julia; Moriano, Clara; Díez, Elvira; Calvo Alén, Jaime; Balsa, Alejandro; Ussetti, María Piedad; Laporta, Rosalía; Berastegui, Cristina; Solé, Amparo; Gualillo, Oreste; Cavagna, Lorenzo; Cifrián, José M.; Renzoni, Elisabetta A.; Castañeda, Santos; López Mejías, Raquel; González Gay, Miguel A.; Spanish Biomarkers Of Antisynthetase Syndrome Consortium; Spanish Biomarkers Of Interstitial Lung Disease Consortium |
| 9-Aug-2021 | Role of the IL33 and IL1RL1 pathway in the pathogenesis of Immunoglobulin A vasculitis | Prieto Peña, Diana; Remuzgo Martínez, Sara; Genre, Fernanda; Pulito Cueto, Verónica; Atienza Mateo, Belén; Llorca Ballester, Jaime; Sevilla Pérez, Belén; Ortego Centeno, Norberto; Marquez, Ana; Lera Gómez, Leticia; Leonardo, María Teresa; Peñalba, Ana; Narváez García, Francisco Javier; Martín Penagos, Luis; Rodrigo, Emilio; Miranda Filloy, José A.; Caminal Montero, Luis; Collado, Paz; Sánchez Pérez, Javier; Argila, Diego de; Rubio, Esteban; León Luque, Manuel; Blanco Madrigal, Juan María; Galíndez Agirregoikoa, Eva; Gualillo, Oreste; Martín, Javier; Castañeda, Santos; Blanco, Ricardo; González Gay, Miguel A.; López Mejías, Raquel |
| 12-Mar-2021 | Role of Wnt pathway genes in complex and monogenic phenotypes of low and high bone mass | Martínez-Gil, Núria |
| 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 |
| 24-Jan-2015 | Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb | Castellanos, Elisabeth; Bielsa, Isabel; Carrato, Cristina; Rosas, Inma; Solanes, Ares; Hostalot, Cristina; Amilibia, Emilio; Prades, José; Roca Ribas, Francesc; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Serra Arenas, Eduard; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC |
| 15-Sep-2017 | Síndromes Miasténicos Congénitos en Población Española: Caracterización Clínica, Genética y de su Respuesta Terapéutica | Natera de Benito, Daniel |
| Mar-2015 | Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes | Nakagawa, Kenji; Gonzalez Roca, Eva; Souto, Alejandro; Kawai, Toshinao; Umebayashi, Hiroaki; Campistol Plana, Jaume; Cañellas, Jeronima; Takei, Syuji; Kobayashi, Norimoto; Callejas Rubio, José Luis; Ortego Centeno, Norberto; Ruiz Ortiz, Estíbaliz; Rius, Fina; Antón López, Jordi; Iglesias Jiménez, Estíbaliz; Jiménez Treviño, Santiago; Vargas, Carmen; Fernandez Martin, Julian; Calvo, Inmaculada; Hernández Rodríguez, José; Méndez, María; Dordal, María Teresa; Basagaña, Maria; Buján Rivas, Segundo; Yashiro, Masato; Kubota, Tetsuo; Koike, Ryuji; Akuta, Naoko; Shimoyama, Kumiko; Iwata, Naomi; Saito, Megumu K.; Ohara, Osamu; Kambe, Naotomo; Yasumi, Takahiro; Izawa, Kazushi; Kawai, Tomoki; Heike, Toshio; Yagüe, Jordi; Nishikomori, Ryuta; Aróstegui Gorospe, Juan Ignacio |
| 31-May-2016 | Targeted next generation sequencing in patients with inborn errors of metabolism | Yubero Siles, Dèlia; Brandi, Nuria; Ormazabal Herrero, Aida; Garcia-Cazorla, Àngels; Pérez Dueñas, Belén; Campistol Plana, Jaume; Ribes Rubió, Maria Antònia; Palau Martínez, Francesc; Artuch Iriberri, Rafael; Armstrong i Morón, Judith |
| - | The CBI-R detects early behavioural impairment in genetic frontotemporal dementia | Nelson, Annabel; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Bouzigues, Arabella; Greaves, Caroline V.; Bocchetta, Martina; Cash, David M.; Swieten, John C.; Jiskoot, Lize; Moreno, Fermín; Sánchez del Valle Díaz, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniella; Vandenberghe, Rik; Mendonça, Alexandre de; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Ber, Isabelle Le; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan D. |
| 28-Nov-2014 | The COPD Knowledge Base: enabling data analysis and computational simulation in translational COPD research | Cano Franco, Isaac; Tényi, Ákos; Schueller, Christine; Wolff, Martin; Huertas Migueláñez, M. Mercedes; Gomez Cabrero, David; Antczak, Philipp; Roca Torrent, Josep; Cascante i Serratosa, Marta; Falciani, Francesco; Maier, Dieter |
| 16-Nov-2011 | The influence of genetic and environmental factors among MDMA users in cognitive performance | Cuyàs, Elisabet; Verdejo García, Antonio; Fagundo, Ana Beatriz; Khymenets, Olha; Rodriguez, Joan; Cuenca, Aida; Sola Llopis, Susana de; Langohr, Klaus; Peña-Casanova, Jordi; Torrens, Marta; Martín-Santos Laffon, Rocío; Farré Albaladejo, Magí; Torre Fornell, Rafael de la |
| 13-Jul-2021 | Towards disentangling the genetic complexity and clinical heterogeneity of psychotic disorders: from family-based approaches to gene-environment studies | Soler Garcia, Jordi |
| 31-Jan-2022 | Unravelling genetic predisposition to familial breast and ovarian cancer: new susceptibility genes and variant interpretation by in silico approaches | Moles Fernández, Alejandro |