Search Results - "RODRIGUEZ DE ALBA, MARTA"

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases by Damián, Alejandra, Núñez-Moreno, Gonzalo, Jubin, Claire, Tamayo, Alejandra, de Alba, Marta Rodríguez, Villaverde, Cristina, Fund, Cédric, Delépine, Marc, Leduc, Aurélie, Deleuze, Jean François, Mínguez, Pablo, Ayuso, Carmen, Corton, Marta

“…Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia…”
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Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation by Sanchez-Jimeno, Carolina, Blanco-Kelly, Fiona, López-Grondona, Fermina, Losada-Del Pozo, Rebeca, Moreno, Beatriz, Rodrigo-Moreno, María, Martinez-Cayuelas, Elena, Riveiro-Alvarez, Rosa, Fenollar-Cortés, María, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

“…Haploinsufficiency of has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disability, autistic features, and…”
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Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring by Hochstenbach, Ron, Slunga-Tallberg, Anna, Devlin, Caroline, Floridia, Giovanna, de Alba, Marta Rodríguez, Bhola, Shama, Rack, Katrina, Hastings, Ros

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Detection of major food allergens in amniotic fluid: initial allergenic encounter during pregnancy by Pastor-Vargas, Carlos, Maroto, Aroa S., Díaz-Perales, Araceli, Villalba, Mayte, Esteban, Vanesa, Ruiz-Ramos, Marta, de Alba, Marta Rodriguez, Vivanco, Fernando, Cuesta-Herranz, Javier

“…Background Ingestion of food allergens present in maternal milk during breastfeeding has been hypothesized as a gateway to sensitization to food; however, this…”
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Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin by Perlado, Sara, Bustamante-Aragonés, Ana, Donas, Marta, Lorda-Sánchez, Isabel, Plaza, Javier, Rodríguez de Alba, Marta

“…To date, non-invasive prenatal diagnosis (NIPD) of monogenic disorders has been limited to cases with a paternal origin. This work shows a validation study of…”
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Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10 by Hervás-Salcedo, Rosario, Fernández-García, María, Hernando-Rodríguez, Miriam, Quintana-Bustamante, Oscar, Segovia, Jose-Carlos, Alvarez-Silva, Marcio, García-Arranz, Mariano, Minguez, Pablo, Del Pozo, Victoria, de Alba, Marta Rodríguez, García-Olmo, Damián, Ayuso, Carmen, Lamana, María Luisa, Bueren, Juan A, Yañez, Rosa María

“…Mesenchymal stromal cells (MSCs) constitute one of the cell types most frequently used in cell therapy. Although several studies have shown the efficacy of…”
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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders by Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

“…Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and…”
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Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation by Gadsbøll, Kasper, Petersen, Olav B, Gatinois, Vincent, Strange, Heather, Jacobsson, Bo, Wapner, Ronald, Vermeesch, Joris R, Vogel, Ida

“…Noninvasive prenatal testing (NIPT) using cell-free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have…”
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Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report by Martínez‐Granero, Francisco, Martínez‐Cayuelas, Elena, Rodilla, Cristina, Núñez‐Moreno, Gonzalo, Rodríguez de Alba, Marta, Blanco‐Kelly, Fiona, Romero, Raquel, Minguez, Pablo, Ayuso, Carmen, Lorda‐Sanchez, Isabel, Corton, Marta, Almoguera, Berta

“…Joubert syndrome (JS) is a clinically and genetically heterogeneous genetic disorder. To date, 40 JS‐causing genes have been reported and CPLANE1 is one of the…”
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Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood by Perlado-Marina, Sara, Bustamante-Aragones, Ana, Horcajada, Laura, Trujillo-Tiebas, Maria Jose, Lorda-Sanchez, Isabel, Ruiz Ramos, Marta, Plaza, Javier, Rodriguez de Alba, Marta

“…Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical…”
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European registration process for Clinical Laboratory Geneticists in genetic healthcare by Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina

“…Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these…”
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Non-invasive prenatal diagnosis of single-gene disorders from maternal blood by Bustamante-Aragonés, Ana, Rodríguez de Alba, Marta, Perlado, Sara, Trujillo-Tiebas, María José, Arranz, Javier Plaza, Díaz-Recasens, Joaquín, Troyano-Luque, Juan, Ramos, Carmen

“…Prenatal diagnosis (PD) is available for pregnancies at risk of monogenic disorders. However, PD requires the use of invasive obstetric techniques for…”
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Application of Fetal DNA Detection in Maternal Plasma: A Prenatal Diagnosis Unit Experience by Gonzalez-Gonzalez, Cristina, Garcia-Hoyos, Maria, Trujillo-Tiebas, M. Jose, Lorda-Sanchez, Isabel, de Alba, Marta Rodriguez, Infantes, Fernando, Gallego, Jesus, Diaz-Recasens, Joaquin, Ayuso, Carmen, Ramos, Carmen

“…Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. So…”
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Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts by Damián, Alejandra, Ionescu, Raluca Oancea, Rodríguez de Alba, Marta, Tamayo, Alejandra, Trujillo-Tiebas, María José, Cotarelo-Pérez, María Carmen, Pérez Rodríguez, Olga, Villaverde, Cristina, de la Fuente, Lorena, Romero, Raquel, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Ayuso, Carmen, Cortón, Marta

“…Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases…”
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MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages by Diego-Alvarez, Dan, de Alba, Marta Rodriguez, Cardero-Merlo, Rocio, Diaz-Recasens, Joaquin, Ayuso, Carmen, Ramos, Carmen, Lorda-Sanchez, Isabel

“…Objective The present study aims to validate multiplex ligation‐dependent probe amplification (MLPA) technique with subtelomeric probe mixes as a screening…”
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Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art by Bustamante-Aragones, Ana, Gonzalez-Gonzalez, Cristina, de Alba, Marta Rodriguez, Ainse, Eva, Ramos, Carmen

“…Owing to the risk of fetal loss associated with prenatal diagnostic procedures, the last decade has seen great developments in noninvasive prenatal diagnosis…”
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Noninvasive prenatal diagnosis of monogenic disorders by Rodríguez de Alba, Marta, Bustamante-Aragonés, Ana, Perlado, Sara, Trujillo-Tiebas, María José, Díaz-Recasens, Joaquín, Plaza-Arranz, Javier, Ramos, Carmen

“…Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to…”
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Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia by Bustamante-Aragones, Ana, Pérez-Cerdá, Celia, Pérez, Belén, Rodriguez de Alba, Marta, Ugarte, Magdalena, Ramos, Carmen

“…Prenatal diagnosis (PD) is available to families affected with propionic acidemia (PA), however, it entails a risk of miscarriage. Fetal DNA circulating in…”
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Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH by Lorda-Sánchez, Isabel, Diego-Alvarez, Dan, Ayuso, Carmen, de Alba, Marta Rodríguez, Trujillo, Maria Jose, Ramos, Carmen

“…Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult…”
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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis by Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen

“…Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1…”
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