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Year Number of Results
2018 2
2020 1
2021 6
2022 10
2023 7
2024 7

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27 results

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Page 1
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: quesada espinosa jf. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
Boast B, Goel S, González-Granado LI, Niemela J, Stoddard J, Edwards ESJ, Seneviratne S, Spensberger D, Quesada-Espinosa JF, Allende LM, McDonnell J, Haseley A, Lesmana H, Walkiewicz MA, Muhammad E, Bosco JJ, Fleisher TA, Cohen S, Holland SM, van Zelm MC, Enders A, Kuehn HS, Rosenzweig SD. Boast B, et al. Among authors: quesada espinosa jf. J Allergy Clin Immunol. 2023 Sep;152(3):736-747. doi: 10.1016/j.jaci.2023.05.017. Epub 2023 Jun 3. J Allergy Clin Immunol. 2023. PMID: 37277074 Free PMC article.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F, Serrano-Lorenzo P, Bermejo-Guerrero L, Blázquez A, Quesada-Espinosa JF, Amigo J, Minguez P, Ayuso C, García-Arumí E, Muelas N, Jaijo T, Nascimento A, Galán-Rodriguez B, Paradas C, Arenas J, Carracedo A, Martí R, Martín MA, Domínguez-González C; for TK2d Spanish-Group. Ceballos F, et al. Among authors: quesada espinosa jf. Neurol Genet. 2024 Mar 25;10(2):e200138. doi: 10.1212/NXG.0000000000200138. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38544965 Free PMC article.
Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.
López-Nevado M, Ortiz-Martín J, Serrano C, Pérez-Saez MA, López-Lorenzo JL, Gil-Etayo FJ, Rodríguez-Frías E, Cabrera-Marante O, Morales-Pérez P, Rodríguez-Pinilla MS, Manso R, Salgado-Sánchez RN, Cerdá-Montagud A, Quesada-Espinosa JF, Gómez-Rodríguez MJ, Paz-Artal E, Muñoz-Calleja C, Arranz-Sáez R, Allende LM. López-Nevado M, et al. Among authors: quesada espinosa jf. J Clin Immunol. 2023 Jan;43(1):165-180. doi: 10.1007/s10875-022-01361-y. Epub 2022 Sep 6. J Clin Immunol. 2023. PMID: 36066697
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.
Bada-Bosch T, Sevillano AM, Sánchez-Calvin MT, Palma-Milla C, Alba de Cáceres I, Díaz-Crespo F, Trujillo H, Alonso M, Cases-Corona C, Shabaka A, Quesada-Espinosa JF, Lezana-Rosales JM, Gutiérrez E, Fernández-Juárez G, Caravaca-Fontán F, Praga M. Bada-Bosch T, et al. Among authors: quesada espinosa jf. Nephrol Dial Transplant. 2024 Jul 31;39(8):1288-1298. doi: 10.1093/ndt/gfae002. Nephrol Dial Transplant. 2024. PMID: 38178635
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A, López-Nevado M, Nieto-López C, García-Jiménez S, Díaz-Madroñero MJ, Delgado Á, Cabrera-Marante O, Pleguezuelo D, Morales P, Paz-Artal E, Gil-Niño J, Marco FM, Serrano C, González-Granado LI, Quesada-Espinosa JF, Allende LM. Segura-Tudela A, et al. Among authors: quesada espinosa jf. J Clin Immunol. 2024 Feb 16;44(3):61. doi: 10.1007/s10875-024-01664-2. J Clin Immunol. 2024. PMID: 38363452 Free PMC article.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Among authors: quesada espinosa jf. Pediatr Neurol. 2024 Jun;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Epub 2024 Mar 14. Pediatr Neurol. 2024. PMID: 38569228 Review.
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos ML, Fernández-Guijarro M, Moreno-García M, Alvarez-Mora MI. Gómez-Rodríguez MJ, et al. Among authors: quesada espinosa jf. Genes (Basel). 2022 Sep 8;13(9):1609. doi: 10.3390/genes13091609. Genes (Basel). 2022. PMID: 36140775 Free PMC article. Review.
Genetic diagnosis of childhood sensorineural hearing loss.
Reda Del Barrio S, García Fernández A, Quesada-Espinosa JF, Sánchez-Calvín MT, Gómez-Manjón I, Sierra-Tomillo O, Juárez-Rufián A, de Vergas Gutiérrez J. Reda Del Barrio S, et al. Among authors: quesada espinosa jf. Acta Otorrinolaringol Esp (Engl Ed). 2024 Mar-Apr;75(2):83-93. doi: 10.1016/j.otoeng.2023.07.002. Epub 2024 Jan 13. Acta Otorrinolaringol Esp (Engl Ed). 2024. PMID: 38224868
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Martín-Jiménez P, Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Arteche-López A, Quesada-Espinosa JF, Voth AH, Vesperinas A, Olivé M, Domínguez-González C. Martín-Jiménez P, et al. Among authors: quesada espinosa jf. Muscle Nerve. 2022 Oct;66(4):E13-E15. doi: 10.1002/mus.27678. Epub 2022 Jul 27. Muscle Nerve. 2022. PMID: 35833674 No abstract available.
27 results