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1993 1
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43 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: eiris j. 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
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR, Palomares-Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Pérez Baca MDR, et al. Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. Epub 2025 May 13. Am J Hum Genet. 2025. PMID: 40367947
Incidence, Risk Factors, and Outcomes of BK Hemorrhagic Cystitis in Hematopoietic Stem Cell Transplantation From HLA-Matched and Haploidentical Donors With Post-Transplant Cyclophosphamide.
Chorão P, Villalba M, Balaguer-Roselló A, Montoro J, Granados P, Gilabert C, Panadero F, Pardal AA, González EM, de Cossio S, Benavente R, Gómez MD, Gómez I, Solves P, Santiago M, Asensi P, Lloret P, Eiris J, Martínez D, Louro A, Rebollar P, Perla A, Salavert M, Rubia J, Sanz MÁ, Sanz J. Chorão P, et al. Among authors: eiris j. Transplant Cell Ther. 2025 Mar;31(3):182.e1-182.e11. doi: 10.1016/j.jtct.2024.12.006. Epub 2024 Dec 17. Transplant Cell Ther. 2025. PMID: 39701290
Sinusoidal Obstruction Syndrome After Allogeneic Hematopoietic Cell Transplantation With Post-Transplant Cyclophosphamide.
Balaguer-Roselló A, Montoro J, Villalba M, Lizama P, Torres L, Chorão P, Cantó PA, Granados P, Eirís J, Tejada C, Moreno-Torres M, Navarro-Aguilar V, Pérez-Girbés A, Moro E, Gómez-Seguí I, Solves P, Bataller A, Lamas B, Louro A, Castell JV, Rubia J, Sanz MÁ, Sanz J. Balaguer-Roselló A, et al. Among authors: eiris j. Transplant Cell Ther. 2025 Sep;31(9):674.e1-674.e13. doi: 10.1016/j.jtct.2025.05.018. Epub 2025 May 20. Transplant Cell Ther. 2025. PMID: 40404101
Cytokine release syndrome: implications for transplant outcomes in haploidentical and HLA-matched HSCT using PTCy.
Benavente R, Montoro J, Balaguer-Roselló A, Villalba M, Chorão P, Asensi P, Granados P, Lloret P, Gómez-Seguí I, Solves P, Santiago M, Lamas B, Bataller A, Eirís J, Martinez D, Louro A, Rebollar P, Perla A, de la Rubia J, Sanz MÁ, Sanz J. Benavente R, et al. Among authors: eiris j. Bone Marrow Transplant. 2025 Jul;60(7):1020-1026. doi: 10.1038/s41409-025-02594-2. Epub 2025 Apr 23. Bone Marrow Transplant. 2025. PMID: 40269279
Redefining Engraftment Syndrome After Post-Transplant Cyclophosphamide Allogeneic Hematopoietic Cell Transplantation: A Novel Classification and Impact on Outcomes.
Benavente R, Montoro J, Balaguer-Roselló A, Villalba M, Chorão P, Cantó PA, Granados P, Gómez-Seguí I, Solves P, Santiago M, Lamas B, Bataller A, Eirís J, Louro A, Perla A, de la Rubia J, Sanz MÁ, Sanz J. Benavente R, et al. Among authors: eiris j. Transplant Cell Ther. 2025 Jun 7:S2666-6367(25)01223-0. doi: 10.1016/j.jtct.2025.06.003. Online ahead of print. Transplant Cell Ther. 2025. PMID: 40490079
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B. Vanegas MI, et al. Among authors: eiris j. Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21. Parkinsonism Relat Disord. 2020. PMID: 33022436
Longitudinal outcome over four decades of allogeneic stem cell transplantation: a single center experience.
Sanz MÁ, Montoro J, Balaguer-Roselló A, Chorão P, Villalba M, Gómez I, Solves P, Santiago M, Asensi P, Lamas B, Bataller A, Granados P, Eiris J, Martinez D, Lloret P, Louro A, Rebollar P, Perla A, de la Rubia J, Sanz J. Sanz MÁ, et al. Among authors: eiris j. Bone Marrow Transplant. 2024 Oct;59(10):1376-1386. doi: 10.1038/s41409-024-02319-x. Epub 2024 Jun 25. Bone Marrow Transplant. 2024. PMID: 38918495
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R. Ulate-Campos A, et al. Among authors: eiris j. Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Med Clin (Barc). 2014. PMID: 24768197 Spanish.
43 results