Search Results - "Codina‐Sola, Marta"

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases by Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.

“…Spondyloepimetaphyseal dysplasia (SEMD), RPL13‐related is caused by heterozygous variants in RPL13, which encodes the ribosomal protein eL13, a component of…”
Get full text

Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases by Rovira‐Moreno, Eulàlia, Abuli, Anna, Codina‐Sola, Marta, Valenzuela, Irene, Serra‐Juhe, Clara, Cuscó, Ivon, Borregán, Mar, Cueto‐González, Anna, Vendrell, Teresa, López‐Grondona, Fermina, Brun‐Gasca, Carme, Brignani, Eduardo, Martínez‐Ribot, Laia, Garci‐Espejo, Regla, Cruz, Jordi, García‐Arumí, Elena, Tizzano, Eduardo F.

“…Rare diseases (RDs) as a whole affect a huge number of individuals although each specific condition comprises a low number of individuals. As a consequence,…”
Get full text

Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant by Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo

“…Meier–Gorlin syndrome (MGORS) is an autosomal recessive disorder characterized by short stature, microtia, and patellar hypoplasia, and is caused by pathogenic…”
Get full text

Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant by Llauradó, Arnau, Gratacòs‐Viñola, Margarida, Rovira‐Moreno, Eulàlia, Codina‐Solà, Marta, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

Get full text

Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene by Llauradó, Arnau, Rovira‐Moreno, Eulalia, Codina‐Solà, Marta, Martínez‐Saez, Elena, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, López‐Diego, Verónica, Restrepo‐Vera, Juan Luis, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

“…Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single…”
Get full text

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern by Restrepo-Vera, Juan Luis, Rovira-Moreno, Eulàlia, Ramón, Javier, Codina-Sola, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, Martí, Ramon, García-Arumí, Elena, Juntas-Morales, Raul

“…RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic variants…”
Get full text

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 by Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M, Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F

“…Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier…”
Get full text

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond by de Valles-Ibáñez, Guillem, Esteve-Solé, Ana, Piquer, Mònica, González-Navarro, E Azucena, Hernandez-Rodriguez, Jessica, Laayouni, Hafid, González-Roca, Eva, Plaza-Martin, Ana María, Deyà-Martínez, Ángela, Martín-Nalda, Andrea, Martínez-Gallo, Mónica, García-Prat, Marina, Del Pino-Molina, Lucía, Cuscó, Ivón, Codina-Solà, Marta, Batlle-Masó, Laura, Solís-Moruno, Manuel, Marquès-Bonet, Tomàs, Bosch, Elena, López-Granados, Eduardo, Aróstegui, Juan Ignacio, Soler-Palacín, Pere, Colobran, Roger, Yagüe, Jordi, Alsina, Laia, Juan, Manel, Casals, Ferran

“…Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia…”
Get full text

A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction by Glennie, Lorraine, Solà, Marta Codina, Xunclà, Mar, Español, Gloria Aparicio, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel, Wood, Nicola T, Macartney, Thomas J, Lasa-Aranzasti, Amaia, Sapkota, Gopal P

“…Palmoplantar keratoderma (PPK) is a multi-faceted skin disorder characterized by the thickening of the epidermis and abrasions on the palms and soles of the…”
Get full text

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders by Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, Del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon

“…Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex…”
Get full text

The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era by Rovira-Moreno, Eulàlia, Abulí, Anna, Muñoz-Cabello, Patricia, Codina-Solà, Marta, Baillès, Eva, de Lemus, Mencía, Darras, Basil T., Tizzano, Eduardo F.

“…Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances…”
Get full text

Provision of Genetic Services for Autism and its Impact on Spanish Families by Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara

“…Although a genetic evaluation can identify the etiology in 15–30% of individuals with autism spectrum disorder, several studies show an underuse of genetic…”
Get full text

Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver by Engelken, Johannes, Espadas, Guadalupe, Mancuso, Francesco M, Bonet, Nuria, Scherr, Anna-Lena, Jímenez-Álvarez, Victoria, Codina-Solà, Marta, Medina-Stacey, Daniel, Spataro, Nino, Stoneking, Mark, Calafell, Francesc, Sabidó, Eduard, Bosch, Elena

“…Essential trace elements possess vital functions at molecular, cellular, and physiological levels in health and disease, and they are tightly regulated in the…”
Get full text

Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction by Casas, Guillem, Limeres, Javier, Oristrell, Gerard, Gutierrez-Garcia, Laura, Andreini, Daniele, Borregan, Mar, Larrañaga-Moreira, Jose M., Lopez-Sainz, Angela, Codina-Solà, Marta, Teixido-Tura, Gisela, Sorolla-Romero, José Antonio, Fernández-Álvarez, Paula, González-Carrillo, Josefa, Guala, Andrea, La Mura, Lucia, Soler-Fernández, Rafaela, Sao Avilés, Augusto, Santos-Mateo, Juan José, Marsal, Josep Ramon, Ribera, Aida, de la Pompa, José Luis, Villacorta, Eduardo, Jiménez-Jáimez, Juan, Ripoll-Vera, Tomás, Bayes-Genis, Antoni, Garcia-Pinilla, José Manuel, Palomino-Doza, Julián, Tiron, Coloma, Pontone, Gianluca, Bogaert, Jan, Aquaro, Giovanni D., Gimeno-Blanes, Juan Ramon, Zorio, Esther, Garcia-Pavia, Pablo, Barriales-Villa, Roberto, Evangelista, Artur, Masci, Pier Giorgio, Ferreira-González, Ignacio, Rodríguez-Palomares, José F.

“…Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis. This study sought to develop and validate a prediction model of major…”
Get full text

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome by Valenzuela, Irene, Codina-Solà, Marta, Vazquez, Elida, Cueto-González, Anna, Leno-Colorado, Jordi, Lasa-Aranzasti, Amaia, Trujillano, Laura, Masotto, Bárbara, Masas, Miriam, Escobar, Mar, García-Arumí, Elena, Tizzano, Eduardo F.

“…Despite ever-increasing knowledge of the genetic etiologies of neurodevelopmental disorders, approximately half remain undiagnosed after exome or genome…”
Get full text

Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples by Abulí, Anna, Costa-Roger, Mar, Codina-Solà, Marta, Valenzuela, Irene, Leno-Colorado, Jordi, Rovira-Moreno, Eulàlia, Cueto-González, Anna, Fernández-Álvarez, Paula, García-Arumí, Elena, Cuscó, Ivon, Tizzano, Eduardo F

“…Consanguineous couples have an increased risk of severe diseases in offspring due to autosomal recessive disorders. Exome sequencing (ES) offers the…”
Get more information

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows by Milligan, John N, Blasco-Pérez, Laura, Costa-Roger, Mar, Codina-Solà, Marta, Tizzano, Eduardo F

“…Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a significant public health interest worldwide, driven largely by the…”
Get full text

Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease by Restrepo-Vera, Juan Luis, Muñoz-Cabello, Patricia, Pérez-Rodon, Jordi, Rovira-Moreno, Eulàlia, Codina-Solà, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, García-Arumí, Elena, Juntas-Morales, Raul

“…•TANGO2 deficiency may cause intellectual disability and limb-girdle myopathy.•Phenotypic variability is common amongst patients with TANGO2 deficiency.•The…”
Get full text

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history by Codina-Solà, Marta, Trujillano, Laura, Abulí, Anna, Rovira-Moreno, Eulàlia, Muñoz-Cabello, Patricia, Campos, Berta, Fernández-Álvarez, Paula, Palau, Dolors, Carrasco, Estela, Valenzuela, Irene, Cueto-González, Anna Maria, Lasa-Aranzasti, Amaia, Limeres, Javier, Leno-Colorado, Jordi, Costa-Roger, Mar, Moles-Fernández, Alejandro, Balmaña, Judith, Díez, Orland, Cuscó, Ivon, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel

“…Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing…”
Get full text

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy by Costa-Roger, Mar, Blasco-Pérez, Laura, Gerin, Lorene, Codina-Solà, Marta, Leno-Colorado, Jordi, Gómez-García De la Banda, Marta, Garcia-Uzquiano, Rocio, Saugier-Veber, Pascale, Drunat, Séverine, Quijano-Roy, Susana, Tizzano, Eduardo F

“…Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the loss or presence of point pathogenic variants in the gene. The main positive…”
Get full text