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Year Number of Results
2012 1
2013 3
2014 1
2015 2
2016 2
2019 1
2020 1
2021 3
2022 1
2023 2
2024 0

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14 results

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Page 1
Differential diagnosis of lipoic acid synthesis defects.
Tort F, Ferrer-Cortes X, Ribes A. Tort F, et al. Among authors: ferrer cortes x. J Inherit Metab Dis. 2016 Nov;39(6):781-793. doi: 10.1007/s10545-016-9975-4. Epub 2016 Sep 1. J Inherit Metab Dis. 2016. PMID: 27586888 Review.
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM, Venturi V, Ferrer-Cortès X, Romero-Cortadellas L, Hernández G, Leoz P, Ricard Andrés MP, Morado M, Fernández Valle MDC, Beneitez Pastor D, Ortuño Cabrero A, Moreno Gamiz M, Senent Peris L, Perez-Valencia AI, Pérez-Montero S, Tornador C, Sánchez M. Musri MM, et al. Among authors: ferrer cortes x. Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935. Int J Mol Sci. 2023. PMID: 37373084 Free PMC article.
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.
Hernández G, Romero-Cortadellas L, Ferrer-Cortès X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, González-Fernández FA, Morado M, Kalfa TA, Quintana-Bustamante O, Pérez-Montero S, Tornador C, Segovia JC, Sánchez M. Hernández G, et al. Among authors: ferrer cortes x. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277. Haematologica. 2023. PMID: 36200420 Free PMC article. No abstract available.
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.
Ducamp S, Luscieti S, Ferrer-Cortès X, Nicolas G, Manceau H, Peoc'h K, Yien YY, Kannengiesser C, Gouya L, Puy H, Sanchez M. Ducamp S, et al. Among authors: ferrer cortes x. Haematologica. 2021 Jul 1;106(7):2030-2033. doi: 10.3324/haematol.2020.272450. Haematologica. 2021. PMID: 33596641 Free PMC article. No abstract available.
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M. Hernández G, et al. Among authors: ferrer cortes x. Genes (Basel). 2021 Dec 13;12(12):1980. doi: 10.3390/genes12121980. Genes (Basel). 2021. PMID: 34946929 Free PMC article.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A. Tort F, et al. Among authors: ferrer cortes x. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortès X, García-Villoria J, Gort L, González-Quintana A, Martín MA, Fernández-Vizarra E, Zeviani M, Ribes A. Tort F, et al. Among authors: ferrer cortes x. Mol Genet Metab. 2020 Nov;131(3):349-357. doi: 10.1016/j.ymgme.2020.10.005. Epub 2020 Oct 13. Mol Genet Metab. 2020. PMID: 33153867
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.
Romero-Cortadellas L, Hernández G, Ferrer-Cortès X, Zalba-Jadraque L, Fuster JL, Bermúdez-Cortés M, Galera-Miñarro AM, Pérez-Montero S, Tornador C, Sánchez M. Romero-Cortadellas L, et al. Among authors: ferrer cortes x. Int J Mol Sci. 2022 Apr 15;23(8):4406. doi: 10.3390/ijms23084406. Int J Mol Sci. 2022. PMID: 35457224 Free PMC article.
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M. Celma Nos F, et al. Among authors: ferrer cortes x. Int J Mol Sci. 2021 May 21;22(11):5451. doi: 10.3390/ijms22115451. Int J Mol Sci. 2021. PMID: 34064225 Free PMC article.
14 results