Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Elisabeth Gabau"'
Autor:
Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes
Externí odkaz:
https://doaj.org/article/af22d34ee914432088d10b491ca50764
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
Autor:
Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic fact
Externí odkaz:
https://doaj.org/article/ee8d5c9d7ce1457f9888d02ded0bbba8
Autor:
Nina Lukic
Publikováno v:
TRANS. Revista de Traductología. :298
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57
Autor:
Cinthia Aguilera, Stefan Hümmer, Marc Masanas, Elisabeth Gabau, Miriam Guitart, A. Arockia Jeyaprakash, Miguel F. Segura, Anna Santamaria, Anna Ruiz
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
KIF1A is a microtubule-dependent motor protein responsible for fast anterograde transport of synaptic vesicle precursors in neurons. Pathogenic variants in KIF1A have been associated with a wide spectrum of neurological disorders. Here, we report a p
Externí odkaz:
https://doaj.org/article/a076fd12eddd46a3a646d90898b8af95
Autor:
Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz
Publikováno v:
PLoS ONE, Vol 16, Iss 10 (2021)
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 1
Externí odkaz:
https://doaj.org/article/58f010521b1a422bb267dbbed268f859
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
Autor:
Irene Berges-Raso, Olga Giménez-Palop, Elisabeth Gabau, Ismael Capel, Assumpta Caixàs, Mercedes Rigla
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2017)
Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic s
Externí odkaz:
https://doaj.org/article/437ac526f7bb4ce69fff2c040d127494
Autor:
Laura Blanco-Hinojo, Jesus Pujol, Susanna Esteba-Castillo, Gerard Martínez-Vilavella, Olga Giménez-Palop, Elisabeth Gabau, Laia Casamitjana, Joan Deus, Ramón Novell, Assumpta Caixàs
Publikováno v:
NeuroImage: Clinical, Vol 21, Iss , Pp - (2019)
Objective: To investigate, based on a putative abnormal neural processing of disgusting signals in Prader Willi syndrome (PWS) patients, the brain response to visual representations of disgusting food in PWS using functional MRI (fMRI). Methods: Twen
Externí odkaz:
https://doaj.org/article/19d392d922f143959decad17c8ee4d8d
Autor:
Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, Elisabeth Gabau, Nuria Capdevila, Victor Martinez-Glez, Antoni Berenguer-Llergo, Sara Reyes, Anna Brunet, Neus Baena, Miriam Guitart, Anna Ruiz
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 708
Neurodevelopmental disorders (NDDs) affect 2–5% of the population and approximately 50% of cases are due to genetic factors. Since de novo pathogenic variants account for the majority of cases, a gene panel including 460 dominant and X-linked genes