Search Results - "Rodriguez‐Revenga, Laia"

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders by Álvarez-Mora, María Isabel, Sánchez, Aurora, Rodríguez-Revenga, Laia, Corominas, Jordi, Rabionet, Raquel, Puig, Susana, Madrigal, Irene

“…Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism…”
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A novel NONO nonsense variant in a fetus with renal abnormalities by Rodriguez‐Revenga, Laia, Nadal, Alfons, Borobio, Virginia, Álvarez‐Mora, Maria Isabel, Madrigal, Irene, Pauta, Montse, Borrell, Antoni

“…At 16 + 6‐weeks a fetal scan performed in the second pregnancy of a 42 y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent…”
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Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result by Rodriguez‐Revenga, Laia, Madrigal, Irene, Borrell, Antoni, Martinez, Josep M., Sabria, Joan, Martin, Lourdes, Jimenez, Wladimiro, Mira, Aurea, Badenas, Celia, Milà, Montserrat

“…Chromosomal microarray analysis (CMA) has now replaced karyotyping in the analysis of prenatal cases with a fetal structural anomaly, whereas in those…”
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Fragile X‐associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations by Alvarez‐Mora, Maria I., Podlesniy, Petar, Gelpi, Ellen, Hukema, Renate, Madrigal, Irene, Pagonabarraga, Javier, Trullas, Ramon, Mila, Montserrat, Rodriguez‐Revenga, Laia

“…Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder that appears in at least one‐third of adult carriers of a…”
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Paternal transmission of a FMR1 full mutation allele by Alvarez‐Mora, Maria Isabel, Guitart, Miriam, Rodriguez‐Revenga, Laia, Madrigal, Irene, Gabau, Elisabeth, Milà, Montserrat

“…Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome…”
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Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers by Elias-Mas, Andrea, Wang, Jun Yi, Rodríguez-Revenga, Laia, Kim, Kyoungmi, Tassone, Flora, Hessl, David, Rivera, Susan M., Hagerman, Randi

“…FMR1 premutation carriers (55–200 CGG repeats) are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder…”
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Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies? by Larroya, Marta, Tortajada, Marta, Mensión, Eduard, Pauta, Montse, Rodriguez-Revenga, Laia, Borrell, Antoni

“…The objective of this study was to determine whether maternal or paternal ages have any impact on the prenatal incidence of genomic copy number variants (CNV)…”
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Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families by RODRIGUEZ-REVENGA, Laia, MADRIGAL, Irene, PAGONABARRAGA, Javier, XUNCLA, Mar, BADENAS, Celia, KULISEVSKY, Jaime, GOMEZ, Beatriz, MILA, Montserrat

“…Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation…”
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Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF72 Patients by Alvarez-Mora, Maria Isabel, Podlesniy, Petar, Riazuelo, Teresa, Molina-Porcel, Laura, Gelpi, Ellen, Rodriguez-Revenga, Laia

“…Hexanucleotide repeat expansion in C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Loss…”
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Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization by Madrigal, Irene, Fernández-Burriel, Miguel, Rodriguez-Revenga, Laia, Cabrera, Jose Carlos, Martí, Milagros, Mur, Antonio, Milà, Montserrat

“…Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide…”
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The utility of circulating LHCGR as a predictor of Down's syndrome in early pregnancy by Chambers, Anne E, Mills, Walter E, Mercadé, Imma, Crovetto, Francesca, Crispi, Fatima, Bodi, Laia Rodriguez-Revenga, Pugia, Michael, Mira, Aurea, Lasalvia, Luis, Banerjee, Subhasis, Casals, Elena, Gratacos, Eduard

“…Previous studies showed that soluble LHCGR/hCG-sLHCGR concentrations in serum or plasma combined with PAPP-A and free βhCG significantly increased the…”
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Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans by Córdoba‐Jover, Bernat, Ribera, Jordi, Portolés, Irene, Lecue, Elena, Rodriguez‐Vita, Juan, Pérez‐Sisqués, Leticia, Mannara, Francesco, Solsona‐Vilarrasa, Estel, García‐Ruiz, Carmen, Fernández‐Checa, José C., Casals, Gregori, Rodríguez‐Revenga, Laia, Álvarez‐Mora, María Isabel, Arteche‐López, Ana, Díaz de Bustamante, Aranzazu, Calvo, Rosa, Pujol, Anna, Azkargorta, Mikel, Elortza, Felix, Malagelada, Cristina, Pinyol, Roser, Huguet‐Pradell, Júlia, Melgar‐Lesmes, Pedro, Jiménez, Wladimiro, Morales‐Ruiz, Manuel

“…Background & Aims Transcription co‐activator factor 20 (TCF20) is a regulator of transcription factors involved in extracellular matrix remodelling. In…”
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Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review by Elias-Mas, Andrea, Alvarez-Mora, Maria Isabel, Caro-Benito, Conxita, Rodriguez-Revenga, Laia

“…FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 ( FMR1 ) gene. FMR1 premutation carriers are at risk of developing a…”
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15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism by Madrigal, Irene, Rodríguez-Revenga, Laia, Xunclà, Mar, Milà, Montserrat

“…Genomic rearrangements of chromosome 15q11–q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion,…”
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Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers by Agusti, Ines, Alvarez-Mora, Maria Isabel, Wijngaard, Robin, Borras, Aina, Barcos, Tamara, Peralta, Sara, Guimera, Marta, Goday, Anna, Manau, Dolors, Rodriguez-Revenga, Laia

“…Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers…”
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Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders by Alvarez-Mora, María Isabel, Rodríguez-Revenga, Laia, Jodar, Meritxell, Potrony, Miriam, Sanchez, Aurora, Badenas, Celia, Oriola, Josep, Villanueva-Cañas, José Luis, Muñoz, Esteban, Valldeoriola, Francesc, Cámara, Ana, Compta, Yaroslau, Carreño, Mar, Martí, María Jose, Sánchez-Valle, Raquel, Madrigal, Irene

“…Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar…”
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Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome by Alvarez-Mora, Maria Isabel, Santos, Cristina, Carreño-Gago, Lidia, Madrigal, Irene, Tejada, Maria Isabel, Martinez, Francisco, Izquierdo-Alvarez, Silvia, Garcia-Arumi, Elena, Mila, Montserrat, Rodriguez-Revenga, Laia

“…•Mitochondrial haplogroup T might be a potential protective factor for FXTAS.•FXTAS individuals accumulate higher rates of heteroplasmic variants in coding…”
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Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome by Elias-Mas, Andrea, Potrony, Miriam, Bague, Jaume, Cutler, David J, Alvarez-Mora, Maria Isabel, Torres, Teresa, Barcos, Tamara, Puig-Butille, Joan Anton, Rubio, Marta, Madrigal, Irene, Puig, Susana, Allen, Emily G, Rodriguez-Revenga, Laia

“…Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult…”
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A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability by Madrigal, Irene, Alvarez-Mora, Maria Isabel, Rosell, Jordi, Rodríguez-Revenga, Laia, Karlberg, Olof, Sauer, Sascha, Syvänen, Ann-Christine, Mila, Montserrat

“…The IQSEC2 gene is located on chromosome Xp11.22 and encodes a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases. This…”
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Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research by Alvarez-Mora, Maria Isabel, Garrabou, Glòria, Molina-Porcel, Laura, Grillo-Risco, Ruben, Garcia-Garcia, Francisco, Barcos, Tamara, Cantó-Santos, Judith, Rodriguez-Revenga, Laia

“…Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in adult FMR1 premutation carriers. The…”
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