Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.

Authors: Orellana, Carmen, Rosello, Monica, Sanchis, Amparo, Pedrola, Laia, Martín-Grau, Carla, Gabaldón-Albero, Alba, Senent, Maria Leonor, Such, Esperanza, García-Ruiz, Cristian, Avetisyan, Gayane, Martínez, Francisco

Source: International Journal of Molecular Sciences; Feb2025, Vol. 26 Issue 3, p1244, 10p

Subject Terms: GENE mapping, GENOMICS, GENETIC variation, RARE diseases, GENETIC disorders

Clinical Utility of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia Diagnostics

Authors: Alonso, Carmen M., Llop, Marta, Sargas, Claudia, Pedrola, Laia, Panadero, Joaquín, Hervás, David, Cervera, José, Such, Esperanza, Ibáñez, Mariam, Ayala, Rosa, Martínez-López, Joaquín, Onecha, Esther, de Juan, Inmaculada, Palanca, Sarai, Martínez-Cuadrón, David, Rodríguez-Veiga, Rebeca, Boluda, Blanca, Montesinos, Pau, Sanz, Guillermo, Sanz, Miguel A., Barragán, Eva

Source: In The Journal of Molecular Diagnostics March 2019 21(2):228-240

Whole Blood Gene Expression Reveals Specific Transcriptome Changes in Neonatal Encephalopathy

Authors: Montaldo, Paolo, Kaforou, Myrsini, Pollara, Gabriele, Hervás-Marín, David, Calabria, Ines, Panadero, Joaquin, Pedrola, Laia, Lally, Peter J., Oliveira, Vânia, Kage, Anup, Atreja, Gaurav, Mendoza, Josephine, Soe, Aung, Pattnayak, Santosh, Shankaran, Seetha, Vento, Máximo, Herberg, Jethro, Thayyil, Sudhin

Source: Neonatology. 115(1):68-76

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084719426.0x000001&indx=1&recIds=ETOCvdc_100084719426.0x000001

Precision medicine in relapsed or refractory pediatric solid tumors: a collaborative Spanish initiative

Authors: Gargallo, Pablo, Font de Mora, Jaime, Berlanga, Pablo, Calabria, Inés, Llavador, Margarita, Pedrola, Laia, Panadero, Joaquín, Dolz, Sandra, Zúñiga, Ángel, Oltra, Juan, Escobar, Paloma, Yáñez, Yania, Aparisi, María, Martinez-Matilla, Marina, Segura, Vanessa, Esquembre, Carlos, Del Cañizo, María, Moreno, María, Márquez, Catalina, Cañete, Adela, Castel, Victoria

Source: Translational medicine communications. 4(1):1-11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189166574.0x000001&indx=1&recIds=ETOCvdc_100189166574.0x000001

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.

Authors: Gabaldon-Albero, Alba, Cordon, Lourdes, Sempere, Amparo, Pedrola, Laia, Martin-Grau, Carla, Oltra, Silvestre, Monfort, Sandra, Caro-Llopis, Alfonso, Dominguez-Martinez, Marta, Hernandez-Muela, Sara, Rosello, Monica, Orellana, Carmen, Martinez, Francisco

Source: Genes; Jun2024, Vol. 15 Issue 6, p802, 9p

Subject Terms: GENETIC variation, SYNDROMES, GLYCOSYLPHOSPHATIDYLINOSITOL, GERM cells, BIOSYNTHESIS

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab

Authors: Martínez-Matilla, Marina, Ferre-Fernández, Jesús José, Aparisi, María José, Marco-Hernández, Ana Victoria, Cerón, Juan Antonio, Crow, Yanick J., Martínez-Castellano, Francisco, Tomás-Vila, Miguel, Pedrola, Laia

Source: Pediatric neurology. 112:53-55

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121454090.0x000001&indx=1&recIds=ETOCvdc_100121454090.0x000001

Non-invasive prediction of NAFLD severity: a comprehensive, independent validation of previously postulated serum microRNA biomarkers

Authors: López-Riera, Mireia, Conde, Isabel, Quintas, Guillermo, Pedrola, Laia, Zaragoza, Ángela, Perez-Rojas, Judith, Salcedo, Mario, Benlloch, Salvador, Castell, José, Jover, Ramiro

Source: Scientific reports. 8(1):1-15

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171370381.0x000001&indx=1&recIds=ETOCvdc_100171370381.0x000001

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

Authors: Martín, Iván, Such, Esperanza, Navarro, Blanca, Vicente, Ana, López-Pavía, María, Ibáñez, Mariam, Tormo, Mar, Villamón, Eva, Gómez-Seguí, Inés, Luna, Irene, Oltra, Silvestre, Pedrola, Laia, Sanz, Miguel Angel, Cervera, Jose, Sanz, Guillermo

Source: Leukemia & lymphoma. 58(7):1686-1693

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050560403.0x000001&indx=1&recIds=ETOCvdc_100050560403.0x000001

The transcriptome of Echinostoma caproni adults: Further characterization of the secretome and identification of new potential drug targets

Authors: Garg, Gagan, Bernal, Dolores, Trelis, Maria, Forment, Javier, Ortiz, Javier, Valero, M. Luz, Pedrola, Laia, Martinez-Blanch, Juan, Esteban, J. Guillermo, Ranganathan, Shoba, Toledo, Rafael, Marcilla, Antonio

Source: In Journal of Proteomics 26 August 2013 89:202-214

TORTICOLIS PAROXÍSTICA DE LA INFANCIA. A PROPÓSITO DE UN CASO. (Spanish)

Alternate Title: PAROXISTIC TORTICOLIS OF CHILDHOOD. REPORT OF A CASE AND REVIEW. (English)

Authors: Alcantud, Alberto, Martínez, Francisco, Teresa Tormo, María, Pedrola, Laia, Jose Aparisi, María, Martínez-Matilla, Marina, Revert, Marta, Fernández, Alejandro, Orta-Sibú, Nelson

Source: Archivos Venezolanos de Puericultura y Pediatría; jul-dic2023, Vol. 86 Issue 2, p51-55, 5p

Subject Terms: GENETIC mutation, ATAXIA, VERTIGO, EPILEPSY, FAMILY history (Medicine)

The new challenge in oncology: Next-generation sequencing and its application in precision medicine

Alternate Title: El nuevo reto en oncología: la secuenciación NGS y su aplicación a la medicina de precisión (Spanish; Castilian)

Authors: Calabria, Inés, Pedrola, Laia, Berlanga, Pablo, Aparisi, María José, Sánchez-Izquierdo, Dolors, Cañete, Adela, Cervera, José, Millán, José María, Castel, Victoria

Source: In Anales de Pediatría (English Edition) November 2016 85(5):273-273

El nuevo reto en oncología: la secuenciación NGS y su aplicación a la medicina de precisión

Alternate Title: The new challenge in oncology: Next-generation sequencing and its application in precision medicine (English)

Authors: Calabria, Inés, Pedrola, Laia, Berlanga, Pablo, Aparisi, María José, Sánchez-Izquierdo, Dolors, Cañete, Adela, Cervera, José, Millán, José María, Castel, Victoria

Source: In Anales de Pediatria November 2016 85(5):273-273

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease

Authors: Kabzińska, Dagmara, Kochański, Andrzej, Drac, Hanna, Rowińska-Marcińska, Katarzyna, Ryniewicz, Barbara, Pedrola, Laia, Palau, Francesc, Hausmanowa-Petrusewicz, Irena

Source: In Journal of the Neurological Sciences 2006 241(1):7-11

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.

Authors: Rosello, Monica, Caro-Llopis, Alfonso, Orellana, Carmen, Oltra, Silvestre, Alemany-Albert, Marta, Marco-Hernandez, Ana V., Monfort, Sandra, Pedrola, Laia, Martinez, Francisco, Tomás, Miguel

Source: Pediatric Research; Aug2021, Vol. 90 Issue 2, p284-288, 5p

High-Throughput Sequencing of RNA Silencing- Associated Small RNAs in Olive (Olea europaea L.).

Authors: Donaire, Livia¹, Pedrola, Laia², Rosa, Raúl de la³, Llave, César¹ cesarllave@cib.csic.es

Source: PLoS ONE. 2011, Vol. 6 Issue 11, p1-14. 14p.

Subject Terms: *RNA, *NUCLEIC acids, *GENETICS, *EMBRYOLOGY, *GENE expression

Microbial Diversity in the Midguts of Field and Lab-Reared Populations of the European Corn Borer Ostrinia nubilalis.

Authors: Belda, Eugeni^1,2, Pedrola, Laia³, Peretó, Juli¹, Martínez-Blanch, Juan F.³, Montagud, Arnau², Navarro, Emilio⁴, Urchueguía, Javier², Ramón, Daniel³, Moya, Andrés¹, Porcar, Manuel¹ manuel.porcar@uv.es

Source: PLoS ONE. 2011, Vol. 6 Issue 6, p1-14. 14p.

Subject Terms: *MICROBIAL diversity, *EUROPEAN corn borer, *STAPHYLOCOCCUS, *CELLULOLYTIC bacteria, *BACTERIAL enzymes, *GRAM-positive bacteria, *METABOLISM, *DIGESTION

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Authors: Cuesta, Ana, Pedrola, Laia, Sevilla, Teresa, García-Planells, Javier, Chumillas, María José, Mayordomo, Fernando, LeGuern, Eric, Marín, Ignacio, Vílchez, Juan J., Palau, Francesc

Source: Nature Genetics. Jan2002, Vol. 30 Issue 1, p22. 4p.

Subject Terms: *CHARCOT-Marie-Tooth disease, *GENETIC mutation, *GENETICS, VOCAL cord diseases

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Whole Blood Gene Expression Reveals Specific Transcriptome Changes in Neonatal Encephalopathy.

Authors: Lally, Peter J., Oliveira, Vânia, Mendoza, Josephine, Thayyil, Sudhin, Montaldo, Paolo, Kaforou, Myrsini, Herberg, Jethro, Pollara, Gabriele, Hervás-Marín, David, Calabria, Ines, Panadero, Joaquin, Pedrola, Laia, Vento, Máximo, Kage, Anup, Atreja, Gaurav, Soe, Aung, Pattnayak, Santosh, Shankaran, Seetha

Source: Neonatology (16617800); 2019, Vol. 115 Issue 1, p68-76, 9p

Subject Terms: NEONATAL sepsis, GENE expression, GENE expression profiling, HYPOXIA-inducible factors, BLOOD