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Page 1
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 Mar 14;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Online ahead of print. Pediatr Neurol. 2024. PMID: 38569228
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.
Two siblings with uncombable hair syndrome: A new pathogenic variant.
Calvo-Asín C, Palencia-Pérez SI, Quesada-Espinosa JF, Puig-Buendia J, Cavestany-Rodríguez R, Velasco-Tamariz V. Calvo-Asín C, et al. Among authors: quesada espinosa jf. Pediatr Dermatol. 2024 Mar 8. doi: 10.1111/pde.15590. Online ahead of print. Pediatr Dermatol. 2024. PMID: 38456245
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.
Diagnostic yield of genetic testing in adults with sensorineural hearing loss.
Reda Del Barrio S, de Vergas Gutiérrez J, Quesada-Espinosa JF, Sánchez-Calvín MT, Gómez-Manjón I, Sierra-Tomillo O, Juárez-Rufián A, Fernández AG. Reda Del Barrio S, et al. Among authors: quesada espinosa jf. Acta Otorrinolaringol Esp (Engl Ed). 2024 Feb 10:S2173-5735(24)00026-7. doi: 10.1016/j.otoeng.2023.10.007. Online ahead of print. Acta Otorrinolaringol Esp (Engl Ed). 2024. PMID: 38346493
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
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.
Bada-Bosch T, Sevillano AM, Teresa Sánchez-Calvin M, Palma-Milla C, Alba de Cáceres I, Díaz-Crespo F, Trujillo H, Alonso M, Cases-Corona C, Shabaka A, Quesada-Espinosa JF, Rosales JML, Gutiérrez E, Fernández-Juárez G, Caravaca-Fontán F, Praga M. Bada-Bosch T, et al. Among authors: quesada espinosa jf. Nephrol Dial Transplant. 2024 Jan 4:gfae002. doi: 10.1093/ndt/gfae002. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38178635
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
González-Quintana A, Garrido-Moraga R, Palencia-Pérez SI, Hernández-Martín Á, Sánchez-Munárriz J, Lezana-Rosales JM, Quesada-Espinosa JF, Martín MA, Arteche-López A. González-Quintana A, et al. Among authors: quesada espinosa jf. Genes (Basel). 2023 Jul 22;14(7):1494. doi: 10.3390/genes14071494. Genes (Basel). 2023. PMID: 37510397 Free PMC article.
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 article.
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
27 results