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Showing 1 to 9 of 9 entries
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Hints of tRNA-Derived Small RNAs Role in RNA Silencing Mechanisms.

Genes

Garcia-Silva MR, Cabrera-Cabrera F, Güida MC, Cayota A.
PMID: 24705078
Genes (Basel). 2012 Oct 10;3(4):603-14. doi: 10.3390/genes3040603.

With the advent of new and improved high-throughput sequencing technologies in the last few years, a growing number of novel classes of small RNA, other than miRNAs or siRNA, has emerged, which appear as new actors in gene expression...

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Garcia-Silva MR, Cabrera-Cabrera F, Güida MC, et al. Hints of tRNA-Derived Small RNAs Role in RNA Silencing Mechanisms. Genes (Basel). 2012;3(4):603-14doi: 10.3390/genes3040603.
Garcia-Silva, M. R., Cabrera-Cabrera, F., Güida, M. C., & Cayota, A. (2012). Hints of tRNA-Derived Small RNAs Role in RNA Silencing Mechanisms. Genes, 3(4), 603-14. https://doi.org/10.3390/genes3040603
Garcia-Silva, Maria Rosa, et al. "Hints of tRNA-Derived Small RNAs Role in RNA Silencing Mechanisms." Genes vol. 3,4 (2012): 603-14. doi: https://doi.org/10.3390/genes3040603
Garcia-Silva MR, Cabrera-Cabrera F, Güida MC, Cayota A. Hints of tRNA-Derived Small RNAs Role in RNA Silencing Mechanisms. Genes (Basel). 2012 Oct 10;3(4):603-14. doi: 10.3390/genes3040603. PMID: 24705078; PMCID: PMC3899978.
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Distal phalangeal erythema in an infant with biallelic .

JIMD reports

Bellusci M, García-Silva MT, Martínez de Aragón A, Martín MA.
PMID: 34765390
JIMD Rep. 2021 Sep 15;62(1):3-5. doi: 10.1002/jmd2.12216. eCollection 2021 Nov.

We report a detailed clinical examination in a patient with primary coenzyme Q

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Bellusci M, García-Silva MT, Martínez de Aragón A, et al. Distal phalangeal erythema in an infant with biallelic . JIMD Rep. 2021;62(1):3-5doi: 10.1002/jmd2.12216.
Bellusci, M., García-Silva, M. T., Martínez de Aragón, A., & Martín, M. A. (2021). Distal phalangeal erythema in an infant with biallelic . JIMD reports, 62(1), 3-5. https://doi.org/10.1002/jmd2.12216
Bellusci, Marcello, et al. "Distal phalangeal erythema in an infant with biallelic ." JIMD reports vol. 62,1 (2021): 3-5. doi: https://doi.org/10.1002/jmd2.12216
Bellusci M, García-Silva MT, Martínez de Aragón A, Martín MA. Distal phalangeal erythema in an infant with biallelic . JIMD Rep. 2021 Sep 15;62(1):3-5. doi: 10.1002/jmd2.12216. eCollection 2021 Nov. PMID: 34765390; PMCID: PMC8574184.
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[Congenital errors of metabolism with repercussion on the nervous system of the newborn infant. When and how to investigate them].

Revista de neurologia

García-Silva MT.
PMID: 11082866
Rev Neurol. 2000 Oct 1-15;31(7):604-16.

INTRODUCTION AND DEVELOPMENT: In the last years we have assisted to a great knowledge of inborn errors of metabolism (IEM). As consequence, the clinical suspicion of IEM in neuropediatrics is more frequent. The IEM must be investigated in the...

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García-Silva MT. Errores congénitos del metabolismo con repercusión sobre el sistema nervioso del recién nacido. Cuándo y cómo investigarlos. [Congenital errors of metabolism with repercussion on the nervous system of the newborn infant. When and how to investigate them]. Rev Neurol. 2000;31(7):604-16
García-Silva, M. T. (2000). Errores congénitos del metabolismo con repercusión sobre el sistema nervioso del recién nacido. Cuándo y cómo investigarlos. [Congenital errors of metabolism with repercussion on the nervous system of the newborn infant. When and how to investigate them]. Revista de neurologia, 31(7), 604-16.
García-Silva, M T. "Errores congénitos del metabolismo con repercusión sobre el sistema nervioso del recién nacido. Cuándo y cómo investigarlos." [Congenital errors of metabolism with repercussion on the nervous system of the newborn infant. When and how to investigate them]. Revista de neurologia vol. 31,7 (2000): 604-16.
García-Silva MT. Errores congénitos del metabolismo con repercusión sobre el sistema nervioso del recién nacido. Cuándo y cómo investigarlos. [Congenital errors of metabolism with repercussion on the nervous system of the newborn infant. When and how to investigate them]. Rev Neurol. 2000 Oct 1-15;31(7):604-16. Spanish. PMID: 11082866.
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Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

JIMD reports

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C.
PMID: 28755359
JIMD Rep. 2018;39:63-74. doi: 10.1007/8904_2017_40. Epub 2017 Jul 29.

Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests must...

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Merinero B, Alcaide P, Martín-Hernández E, et al. Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. JIMD Rep. 2017;39:63-74doi: 10.1007/8904_2017_40.
Merinero, B., Alcaide, P., Martín-Hernández, E., Morais, A., García-Silva, M. T., Quijada-Fraile, P., Pedrón-Giner, C., Dulin, E., Yahyaoui, R., Egea, J. M., Belanger-Quintana, A., Blasco-Alonso, J., Fernandez Ruano, M. L., Besga, B., Ferrer-López, I., Leal, F., Ugarte, M., Ruiz-Sala, P., Pérez, B., & Pérez-Cerdá, C. (2018). Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. JIMD reports, 3963-74. https://doi.org/10.1007/8904_2017_40
Merinero, B, et al. "Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers." JIMD reports vol. 39 (2018): 63-74. doi: https://doi.org/10.1007/8904_2017_40
Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C. Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. JIMD Rep. 2018;39:63-74. doi: 10.1007/8904_2017_40. Epub 2017 Jul 29. PMID: 28755359; PMCID: PMC5953901.
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Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Journal of clinical medicine

Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P.
PMID: 31683770
J Clin Med. 2019 Nov 01;8(11). doi: 10.3390/jcm8111811.

Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the diagnosis...

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Bravo-Alonso I, Navarrete R, Vega AI, et al. Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. J Clin Med. 2019;8(11)doi: 10.3390/jcm8111811.
Bravo-Alonso, I., Navarrete, R., Vega, A. I., Ruíz-Sala, P., García Silva, M. T., Martín-Hernández, E., Quijada-Fraile, P., Belanger-Quintana, A., Stanescu, S., Bueno, M., Vitoria, I., Toledo, L., Couce, M. L., García-Jiménez, I., Ramos-Ruiz, R., Martín, M. �. �., Desviat, L. R., Ugarte, M., Pérez-Cerdá, C., Merinero, B., Pérez, B., & Rodríguez-Pombo, P. (2019). Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. Journal of clinical medicine, 8(11), . https://doi.org/10.3390/jcm8111811
Bravo-Alonso, Irene, et al. "Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment." Journal of clinical medicine vol. 8,11 (2019). doi: https://doi.org/10.3390/jcm8111811
Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P. Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. J Clin Med. 2019 Nov 01;8(11). doi: 10.3390/jcm8111811. PMID: 31683770; PMCID: PMC6912785.
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Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.

JIMD reports

Martín-Hernández E, Quijada-Fraile P, Oliveros-Leal L, García-Silva M, Pérez-Cerdá C, Baro-Fernández M, Pérez-Alonso V, Vivanco J.
PMID: 23430942
JIMD Rep. 2012;6:73-8. doi: 10.1007/8904_2012_137. Epub 2012 Mar 21.

We present the nutritional and pharmacological management of a 2-year-old girl with a severe form of propionic acidaemia and a genitourinary embryonal rhabdomyosarcoma. This association has not been described before, nor the utilization of chemotherapy in patients with propionic...

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Martín-Hernández E, Quijada-Fraile P, Oliveros-Leal L, et al. Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides. JIMD Rep. 2012;6:73-8doi: 10.1007/8904_2012_137.
Martín-Hernández, E., Quijada-Fraile, P., Oliveros-Leal, L., García-Silva, M., Pérez-Cerdá, C., Baro-Fernández, M., Pérez-Alonso, V., & Vivanco, J. (2012). Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides. JIMD reports, 673-8. https://doi.org/10.1007/8904_2012_137
Martín-Hernández, E, et al. "Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides." JIMD reports vol. 6 (2012): 73-8. doi: https://doi.org/10.1007/8904_2012_137
Martín-Hernández E, Quijada-Fraile P, Oliveros-Leal L, García-Silva M, Pérez-Cerdá C, Baro-Fernández M, Pérez-Alonso V, Vivanco J. Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides. JIMD Rep. 2012;6:73-8. doi: 10.1007/8904_2012_137. Epub 2012 Mar 21. PMID: 23430942; PMCID: PMC3565659.
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External cervical resorption after distraction of the periodontal ligament.

Journal of clinical orthodontics : JCO

Valladares-Neto J, Evangelista K, Garcia Silva MA.
PMID: 35015727
J Clin Orthod. 2021 Oct;55(10):634-644.

No abstract available.

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Valladares-Neto J, Evangelista K, Garcia Silva MA. External cervical resorption after distraction of the periodontal ligament. J Clin Orthod. 2021;55(10):634-644
Valladares-Neto, J., Evangelista, K., & Garcia Silva, M. A. (2021). External cervical resorption after distraction of the periodontal ligament. Journal of clinical orthodontics : JCO, 55(10), 634-644.
Valladares-Neto, José, et al. "External cervical resorption after distraction of the periodontal ligament." Journal of clinical orthodontics : JCO vol. 55,10 (2021): 634-644.
Valladares-Neto J, Evangelista K, Garcia Silva MA. External cervical resorption after distraction of the periodontal ligament. J Clin Orthod. 2021 Oct;55(10):634-644. PMID: 35015727.
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New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.

Neuromuscular disorders : NMD

Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Merino-López A, Chumilla-Calzada S, García-Silva MT, Martínez-Azorín F.
PMID: 34210538
Neuromuscul Disord. 2021 Aug;31(8):773-782. doi: 10.1016/j.nmd.2021.05.008. Epub 2021 May 28.

We report the case of a 16-year-old Spanish boy with cerebellar and spinal muscular atrophy, spasticity, psychomotor retardation, nystagmus, ophthalmoparesis, epilepsy, and mitochondrial respiratory chain (MRC) deficiency. Whole exome sequencing (WES) uncovered three variants (two of them novel) in...

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Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, et al. New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient. Neuromuscul Disord. 2021;31(8):773-782doi: 10.1016/j.nmd.2021.05.008.
Rodríguez-García, M. E., Cotrina-Vinagre, F. J., Bellusci, M., Merino-López, A., Chumilla-Calzada, S., García-Silva, M. T., & Martínez-Azorín, F. (2021). New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient. Neuromuscular disorders : NMD, 31(8), 773-782. https://doi.org/10.1016/j.nmd.2021.05.008
Rodríguez-García, María Elena, et al. "New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient." Neuromuscular disorders : NMD vol. 31,8 (2021): 773-782. doi: https://doi.org/10.1016/j.nmd.2021.05.008
Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Merino-López A, Chumilla-Calzada S, García-Silva MT, Martínez-Azorín F. New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient. Neuromuscul Disord. 2021 Aug;31(8):773-782. doi: 10.1016/j.nmd.2021.05.008. Epub 2021 May 28. PMID: 34210538.
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Differential Expression of microRNAs in Thymic Epithelial Cells from Trypanosoma cruzi Acutely Infected Mice: Putative Role in Thymic Atrophy.

Frontiers in immunology

Linhares-Lacerda L, Palu CC, Ribeiro-Alves M, Paredes BD, Morrot A, Garcia-Silva MR, Cayota A, Savino W.
PMID: 26347748
Front Immunol. 2015 Aug 21;6:428. doi: 10.3389/fimmu.2015.00428. eCollection 2015.

A common feature seen in acute infections is a severe atrophy of the thymus. This occurs in the murine model of acute Chagas disease. Moreover, in thymuses from Trypanosoma cruzi acutely infected mice, thymocytes exhibit an increase in the...

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Linhares-Lacerda L, Palu CC, Ribeiro-Alves M, et al. Differential Expression of microRNAs in Thymic Epithelial Cells from Trypanosoma cruzi Acutely Infected Mice: Putative Role in Thymic Atrophy. Front Immunol. 2015;6:428doi: 10.3389/fimmu.2015.00428.
Linhares-Lacerda, L., Palu, C. C., Ribeiro-Alves, M., Paredes, B. D., Morrot, A., Garcia-Silva, M. R., Cayota, A., & Savino, W. (2015). Differential Expression of microRNAs in Thymic Epithelial Cells from Trypanosoma cruzi Acutely Infected Mice: Putative Role in Thymic Atrophy. Frontiers in immunology, 6428. https://doi.org/10.3389/fimmu.2015.00428
Linhares-Lacerda, Leandra, et al. "Differential Expression of microRNAs in Thymic Epithelial Cells from Trypanosoma cruzi Acutely Infected Mice: Putative Role in Thymic Atrophy." Frontiers in immunology vol. 6 (2015): 428. doi: https://doi.org/10.3389/fimmu.2015.00428
Linhares-Lacerda L, Palu CC, Ribeiro-Alves M, Paredes BD, Morrot A, Garcia-Silva MR, Cayota A, Savino W. Differential Expression of microRNAs in Thymic Epithelial Cells from Trypanosoma cruzi Acutely Infected Mice: Putative Role in Thymic Atrophy. Front Immunol. 2015 Aug 21;6:428. doi: 10.3389/fimmu.2015.00428. eCollection 2015. PMID: 26347748; PMCID: PMC4543887.
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Showing 1 to 9 of 9 entries