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01/01/2023
An European overview of genetic counselling supervision provision
Paneque M., Guimarães L., Bengoa J., Pasalodos S., Cordier C., Esteban I., Lemos C., Moldovan R., Serra-Juhé C.. An European overview of genetic counselling supervision provision. European Journal of Medical Genetics. 2023; 66(4)DOI:10.1016/j.ejmg.2023.104710. PMID:36731744. IF:1.600(Q4/8D).
01/01/2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
Rodríguez Cruz P.M., Ravenscroft G., Natera D., Carr A., Manzur A., Liu W.W., Vella N.R., Jericó I., Gonzalez-Quereda L., Gallano P., Montalto S.A., Davis M.R., Lamont P.J., Laing N.G., Bourque P., Nascimento A., Muntoni F., Polavarapu K., Lochmüller H., Palace J., Beeson D.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. NEUROMUSCULAR DISORDERS. 2023; 33(2)DOI:10.1016/j.nmd.2022.12.011. PMID:36634413. IF:2.700(Q2/4D).
31/08/2022
On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022)
Paneque, M, Juhe, CS, Melegh, B, Carreira, I, Moog, U, Liehr, T. On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022). Medizinische Genetik. 2022; 34(2)DOI:10.1515/medgen-2022-2122. PMID:. IF:1.100(Q4/10D).
01/08/2022
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Lucia-Campos, C, Valenzuela, I, Latorre-Pellicer, A, Ros-Pardo, D, Gil-Salvador, M, Arnedo, M, Puisac, B, Castells, N, Plaja, A, Tenes, A, Cusco, I, Trujillano, L, Ramos, FJ, Tizzano, EF, Gomez-Puertas, P, Pie, J. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. Genes. 2022; 13(8)DOI:10.3390/genes13081413. PMID:36011323. IF:3.500(Q2/4D).
01/01/2022
Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática
Miarons M., Riera P., García-Gil S., Gutiérrez-Nicolás F.. Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática. Farmacia Hospitalaria. 2022; 46(4)DOI:10.7399/fh.11736. PMID:36183220. IF:(Q/D).
31/07/2025
Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome
Felipe, DF, Casas-Alba, D, Sadok, SH, Fernández, MT, Vega-Hanna, L, Plaza, L, Villa, AV, Armstrong, J, Guillén-Navarro, E, Martínez-Monseny, AF. Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome. Genes. 2025; 16(8)DOI:10.3390/genes16080925. PMID:40869974. IF:2.800(Q2/5D).
01/10/2024
An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy
Segarra-Casas, A, Yépez, V, Demidov, G, Laurie, S, Esteve, A, Gagneur, J, Parkhurst, Y, Muni-Lofra, R, Harris, E, Marini-Bettolo, C, Straub, V, Töpf, A. An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024
Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families
Estévez-Arias, B, Segarra-Casas, A, Ortez, C, Matalonga, L, Carrera-García, L, Expósito-Escudero, J, Jou, C, Codina, A, Jiménez-Mallebrera, C, Martorell, L, Lochmüller, H, Töpf, A, Beltran, S, Hoenicka, J, Palau, F, Martí, I, Gallano, P, Nascimento, A, Natera-de Benito, D, González-Quereda, L. Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).