Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Neus Castells"'
Autor:
Liselot van der Laan, Kathleen Rooney, Sadegheh Haghshenas, Ananília Silva, Haley McConkey, Raissa Relator, Michael A. Levy, Irene Valenzuela, Laura Trujillano, Amaia Lasa-Aranzasti, Berta Campos, Neus Castells, Eline A. Verberne, Saskia Maas, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. van Haelst, Bekim Sadikovic, Peter Henneman
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 14240 (2023)
JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, co
Externí odkaz:
https://doaj.org/article/cf4651b452c4446c909f1c60cf569a81
Autor:
Clara Franco-Jarava, Irene Valenzuela, Jacques G. Riviere, Marina Garcia-Prat, Mónica Martínez-Gallo, Romina Dieli-Crimi, Neus Castells, Laura Batlle-Masó, Pere Soler-Palacin, Roger Colobran
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to l
Externí odkaz:
https://doaj.org/article/f2279b5b19ad495ba5282ab285a40b9a
Autor:
Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measu
Externí odkaz:
https://doaj.org/article/5fd90d6790484b2b99c860828ddbffb2
Autor:
Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Publikováno v:
Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
Resumen: Fundamento y objetivo: La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación
Externí odkaz:
https://doaj.org/article/96b2da0718b8405fb1788e89fcee444a
Autor:
Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Publikováno v:
Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 3-11 (2018)
Background and objective: Conventional cytogenetics diagnoses 3–5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnos
Externí odkaz:
https://doaj.org/article/9f076a269c284212af374c79ff0580c0
Autor:
Dolors Casellas‐Vidal, Irene Mademont‐Soler, Joana Sánchez, Alberto Plaja, Neus Castells, Maria Camós, Javier Nieto‐Moragas, Maria del Mar García, Celia Rodriguez‐Solera, Helena Rivera, Joan Brunet, Sara Álvarez, Josep Perapoch, Xavier Queralt, María Obón
Publikováno v:
American Journal of Medical Genetics Part A. 191:941-947
The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three memb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7efffabd9ba05e62a39970c7dfb4e0e5
https://doi.org/10.1002/ajmg.a.63099
https://doi.org/10.1002/ajmg.a.63099
Autor:
Edgar Coello-Cahuao, María Ángeles Sánchez-Durán, Inés Calero, María Teresa Higueras, Mayte Avilés García, Carlota Rodó, Nerea Maiz, Alberto Plaja Rustein, Neus Castells-Sarret, Carmen Mediano-Vizuete, Elena Carreras
Publikováno v:
Archives of Gynecology and Obstetrics. 307:285-292
To evaluate the performance of chromosomal microarray analysis (CMA) in fetuses with nuchal translucency (NT) 95th percentile. Secondary objectives were to analyze these results according to NT thickness, below or above 3.5 mm, and those without asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee384130d9ae0919e41790ee7185f87
https://doi.org/10.1007/s00404-022-06564-7
https://doi.org/10.1007/s00404-022-06564-7
Autor:
Cristina, Lucia-Campos, Irene, Valenzuela, Ana, Latorre-Pellicer, David, Ros-Pardo, Marta, Gil-Salvador, María, Arnedo, Beatriz, Puisac, Neus, Castells, Alberto, Plaja, Anna, Tenes, Ivon, Cuscó, Laura, Trujillano, Feliciano J, Ramos, Eduardo F, Tizzano, Paulino, Gómez-Puertas, Juan, Pié
Publikováno v:
Genes. 13(8)
Cornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. It is caused by genetic variants in genes rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::645e75c38f6282bc0416118aeb62aff2
https://pubmed.ncbi.nlm.nih.gov/36011323
https://pubmed.ncbi.nlm.nih.gov/36011323
Autor:
Carlota Rodó, Silvia Arévalo, Alberto Plaja, Maddalena Santirocco, Anna Abuli, Neus Castells, Elena Carreras, Nerea Maiz, Eduardo F. Tizzano, Irene Valenzuela
Publikováno v:
Prenatal Diagnosis. 41:123-135
Objectives To evaluate the prevalence of DNA copy number variants (CNVs) detected with array comparative genomic hybridization (CGH) in fetuses with central nervous system (CNS) anomalies. Secondary objectives were to describe the prevalence of CNV i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b6ba267b433b2c40687c6e8adb3505
https://doi.org/10.1002/pd.5829
https://doi.org/10.1002/pd.5829
Autor:
Fermina López-Grondona, Anna M. Cueto-González, Alberto Plaja, Neus Castells-Sarret, Mar Borregan, Rosa Miró, Eduardo F. Tizzano
Publikováno v:
Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
Resumen: Fundamento y objetivo: La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f3ff328602151f3defdf9d1b4fd9ae9
http://www.sciencedirect.com/science/article/pii/S1695403317303065
http://www.sciencedirect.com/science/article/pii/S1695403317303065