Výsledky vyhledávání - "Neus Castells"

Akademický článek

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

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

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Akademický článek

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

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

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Akademický článek

Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

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

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Akademický článek

Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis

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

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ZDHHC15 as a candidate gene for autism spectrum disorder

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

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Array study in fetuses with nuchal translucency above the 95th percentile: a 4-year observational single-centre study

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

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A Novel Intragenic Duplication in the

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

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Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital

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

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Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

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)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f3ff328602151f3defdf9d1b4fd9ae9
http://www.sciencedirect.com/science/article/pii/S1695403317303065

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)

Autor: Neus Castells, Albert Plaja, Mónica Martínez-Gallo, Andrea Martín-Nalda, Anna M. Cueto-González, Pere Soler-Palacín, Ana Argudo-Ramírez, Eduardo F. Tizzano, Roger Colobran, Jacques G. Rivière, Jose Luis Marín-Soria

Publikováno v: Scientia
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

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 measure T‐ce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1617d413f71bc21eaa0846cc9be14801
https://hdl.handle.net/11351/5218

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