Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marina Viñas-Jornet"'
Autor:
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old
Externí odkaz:
https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2
Autor:
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Abstract Background Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack o
Externí odkaz:
https://doaj.org/article/78683611a3034c6699fa4b8a10379abe
Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.
Autor:
Marta Bueno, Susanna Esteba-Castillo, Ramon Novell, Olga Giménez-Palop, Ramon Coronas, Elisabeth Gabau, Raquel Corripio, Neus Baena, Marina Viñas-Jornet, Míriam Guitart, David Torrents-Rodas, Joan Deus, Jesús Pujol, Mercedes Rigla, Assumpta Caixàs
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0163468 (2016)
Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis.To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS.Exper
Externí odkaz:
https://doaj.org/article/9e477da975734f6eb221bbaf889472d6
Autor:
Anna Ruiz, Lourdes Martorell, Elisabet Vilella, David Torrents-Rodas, Susanna Esteba-Castillo, Lluís Armengol, Marina Viñas-Jornet, Núria Ribas-Vidal, Neus Baena, Miriam Guitart, Elisabeth Gabau, Ramon Novell
Publikováno v:
Behavior Genetics
A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to
Autor:
Nick Bass, Griet Van Buggenhout, Nathalie Brison, Marina Viñas-Jornet, Ramon Novell, Andre Strydom, Núria Ribas-Vidal, Johan H. Thygesen, Susanna Esteba-Castillo, Annick Vogels, Andrew McQuillin, Kate Wolfe, Miriam Guitart Feliubadaló
Publikováno v:
European Neuropsychopharmacology. 29:S856-S857
Background Rare Copy Number Variants (CNVs) are known to be important risk factors for Neurodevelopmental Disorders (NDDs). Pathogenic CNVs identified to date confer moderate to large effect sizes (OR 1.5 - 50 or higher) and have important clinical i
Autor:
Neus Baena, Assumpta Caixàs, Susanna Esteba-Castillo, Mercedes Rigla, Marina Viñas-Jornet, Miriam Guitart, Ramón Coronas, David Torrents-Rodas, Raquel Corripio, Olga Giménez-Palop, Marta Bueno, Joan Deus, Jesús Pujol, Elisabeth Gabau, Ramon Novell
Publikováno v:
Repositorio Abierto de la UdL
Universitad de Lleida
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
PLoS ONE, Vol 11, Iss 9, p e0163468 (2016)
Universitad de Lleida
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
PLoS ONE, Vol 11, Iss 9, p e0163468 (2016)
Context: Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis. Objectives: To analyze the role of BDNF and leptin in satiety in genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056b561fddfa88bd8db397ea9787d4fc
http://hdl.handle.net/10459.1/70854
http://hdl.handle.net/10459.1/70854
Autor:
Marina Viñas-Jornet, Núria Ribas-Vidal, Maria Dolors Coll, Anna Ruiz, Miriam Guitart, Susanna Esteba-Castillo, Ramon Novell, Elisabeth Gabau, Joan San, Neus Baena
Publikováno v:
Molecular Genetics & Genomic Medicine
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
© Molecular Genetics and Genomics, 2014 (August 18), 10 p.
Articles publicats (D-CM)
Viñas Jornet, Marina Esteba Castillo, Susanna Gabau, Elisabeth Ribas Vidal, Núria Baena, Neus San Molina, Juan Lorenzo Ruiz, Anna Coll, Maria Dolors Novell, Ramon Guitart, Miriam 2014 A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion Molecular Genetics and Genomics
DUGiDocs – Universitat de Girona
instname
Recercat. Dipósit de la Recerca de Catalunya
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
© Molecular Genetics and Genomics, 2014 (August 18), 10 p.
Articles publicats (D-CM)
Viñas Jornet, Marina Esteba Castillo, Susanna Gabau, Elisabeth Ribas Vidal, Núria Baena, Neus San Molina, Juan Lorenzo Ruiz, Anna Coll, Maria Dolors Novell, Ramon Guitart, Miriam 2014 A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion Molecular Genetics and Genomics
DUGiDocs – Universitat de Girona
instname
Recercat. Dipósit de la Recerca de Catalunya
Altres ajuts: Fundació Parc Taulí - Institut Universitari UAB CIR2009/33 i CIR2010/034 Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf76d6d68c72c687badeeab18a69764
https://ddd.uab.cat/record/185244
https://ddd.uab.cat/record/185244