Publications by authors named "Sara Álvarez"

82Publications

ANO3 and early-onset dyskinetic encephalopathy.

Eur J Med Genet 2020 Oct 9;63(12):104085. Epub 2020 Oct 9.

Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain; School of Medicine. Universidad Europea de Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104085DOI Listing
October 2020

Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

CNS Neurosci Ther 2020 Nov 20;26(11):1178-1184. Epub 2020 Sep 20.

Laboratory of Neurobiology, Institute of Neurosciences, IdISSC, Hospital Clínico San Carlos, Universidad Complutense de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1111/cns.13456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564193PMC
November 2020

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.

J Neuromuscul Dis 2020 ;7(3):309-313

Sección Neurología Infantil, Servicio de Neurología, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Spain.

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http://dx.doi.org/10.3233/JND-200477DOI Listing
January 2020

Distinct mutational pattern of myelodysplastic syndromes with and without 5q- treated with lenalidomide.

Br J Haematol 2020 May 9;189(4):e133-e137. Epub 2020 Mar 9.

MDS Research Group, Josep Carreras Leukaemia Research Institute, Institut Català d'Oncologia-Hospital Germans Trias i Pujol, Universitat Autonoma de Barcelona, Badalona, Spain.

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http://dx.doi.org/10.1111/bjh.16558DOI Listing
May 2020

Clinical manifestations of episodic ataxia type 5.

Neurol Clin Pract 2019 Dec;9(6):503-504

Department of Neurology (MGS, JG), Hospital Universitario Miguel Servet; Department of Clinical Biochemistry (SI), Hospital Universitario Miguel Servet, Section of Genetics, Zaragoza; NIMGenetics (SA), Madrid; Department of Internal Medicine (REBA), Hospital Universitario Miguel Servet, Zaragoza; Department of Neurology (JB), Hospital Universitario Marqués de Valdecilla, Santander, Spain.

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http://dx.doi.org/10.1212/CPJ.0000000000000697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927442PMC
December 2019

Troubleshooting Complex Vascular Cases in the Kidney Transplant Recipient: Vascular Anomalies, Challenging Vessel Diseases, and Procedural Disasters.

Curr Urol Rep 2020 Feb 4;21(1). Epub 2020 Feb 4.

Urology Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Ctra Colmenar km 9,100, 28034, Madrid, Spain.

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http://dx.doi.org/10.1007/s11934-020-0958-5DOI Listing
February 2020

Troubleshooting Complex Vascular Cases in the Kidney Graft: Multiple Vessels, Aneurysms, and Injuries During Harvesting Procedures.

Curr Urol Rep 2020 Jan 31;21(1). Epub 2020 Jan 31.

Urology Department, Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Ctra Colmenar km 9,100, 28034, Madrid, Spain.

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http://dx.doi.org/10.1007/s11934-020-0955-8DOI Listing
January 2020

Hereditary primary lateral sclerosis and progressive nonfluent aphasia.

J Neurol 2019 May 5;266(5):1079-1090. Epub 2019 Mar 5.

Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Santander, Spain.

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http://link.springer.com/10.1007/s00415-019-09235-x
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http://dx.doi.org/10.1007/s00415-019-09235-xDOI Listing
May 2019

Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.

Neurol Sci 2018 Dec 11;39(12):2231-2233. Epub 2018 Sep 11.

NIMGenetics, Cantoblanco, Madrid, Spain.

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http://dx.doi.org/10.1007/s10072-018-3545-5DOI Listing
December 2018

A newly homozygous variant in ZNF808: A possible candidate gene for Satoyoshi Syndrome?

J Neurol Sci 2017 08 16;379:226-228. Epub 2017 Jun 16.

Research Department, Neuropsychopharmacology Unit, Albacete General Hospital, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.06.023DOI Listing
August 2017

The long-term resistance mechanisms, critical irrigation threshold and relief capacity shown by Eugenia myrtifolia plants in response to saline reclaimed water.

Plant Physiol Biochem 2017 Feb 5;111:244-256. Epub 2016 Dec 5.

Irrigation Department, CEBAS-CSIC, Campus Universitario de Espinardo, Murcia, P.O. Box 164, E-30100, Spain.

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http://dx.doi.org/10.1016/j.plaphy.2016.12.003DOI Listing
February 2017

Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture.

Injury 2016 Sep;47 Suppl 3:S41-S50

Department of Orthopaedic Surgery and Traumatology, Hospital Universitario Costa del Sol, University of Malaga, Marbella, Malaga, Spain.

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http://dx.doi.org/10.1016/S0020-1383(16)30605-2DOI Listing
September 2016

Surgical technique for the treatment of renal cell carcinoma with inferior vena cava tumor thrombus: tips, tricks and oncological results.

Springerplus 2016 20;5:132. Epub 2016 Feb 20.

Urology Department, Renal Surgery and Kidney Transplant Section, Hospital Universitario Ramón y Cajal, Ctra Colmenar km 9,100, 28034 Madrid, Spain.

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http://dx.doi.org/10.1186/s40064-016-1825-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761352PMC
March 2016

Calcineurin and mTOR inhibitors have opposing effects on regulatory T cells while reducing regulatory B cell populations in kidney transplant recipients.

Transpl Immunol 2016 Mar 1;35:1-6. Epub 2016 Feb 1.

Infection Biology Laboratory, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.trim.2016.01.004DOI Listing
March 2016

Changes in growth, physiological parameters and the hormonal status of Myrtus communis L. plants irrigated with water with different chemical compositions.

J Plant Physiol 2016 Feb 30;191:12-21. Epub 2015 Nov 30.

Departamento de Riego, CEBAS-CSIC, Campus Universitario de Espinardo, Murcia, P.O. Box 164, E-30100, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jplph.2015.11.010DOI Listing
February 2016

Comparison of individual and combined effects of salinity and deficit irrigation on physiological, nutritional and ornamental aspects of tolerance in Callistemon laevis plants.

J Plant Physiol 2015 Aug 5;185:65-74. Epub 2015 Aug 5.

Departamento de Riego, Centro de Edafología y Biología Aplicada del Segura (CSIC), P.O. Box 164, E-30100 Murcia, Spain.

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http://dx.doi.org/10.1016/j.jplph.2015.07.009DOI Listing
August 2015

NaCl-induced physiological and biochemical adaptative mechanisms in the ornamental Myrtus communis L. plants.

J Plant Physiol 2015 Jul 23;183:41-51. Epub 2015 May 23.

Fruit Tree Biotechnology Group, Dept. of Plant Breeding, CEBAS-CSIC, Campus Universitario de Espinardo, Murcia, P.O. Box 164, E-30100, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jplph.2015.05.005DOI Listing
July 2015

MAPK8-mediated stabilization of SP1 is essential for RUNX1-RUNX1T1 - driven leukaemia.

Br J Haematol 2016 Mar 8;172(5):807-10. Epub 2015 Jun 8.

Molecular Cytogenetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1111/bjh.13536DOI Listing
March 2016

Physiological and biochemical mechanisms of the ornamental Eugenia myrtifolia L. plants for coping with NaCl stress and recovery.

Planta 2015 Oct 15;242(4):829-46. Epub 2015 May 15.

Irrigation Department, CEBAS-CSIC, Campus Universitario de Espinardo, P.O. Box 164, 30100, Murcia, Spain.

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http://dx.doi.org/10.1007/s00425-015-2315-3DOI Listing
October 2015

Orthotopic kidney transplant: a valid surgical alternative for complex patients.

Curr Urol Rep 2015 Jan;16(1):470

Urology Department, Hospital Universitario Ramón y Cajal, Alcalá University, Madrid, Spain,

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http://dx.doi.org/10.1007/s11934-014-0470-xDOI Listing
January 2015

Myeloid neoplasms with der(1)t(1;19) may constitute a specific entity characterized by a cytogenetic biomarker and gene mutations involved in DNA methylation.

Leuk Lymphoma 2014 Nov 17;55(11):2652-5. Epub 2014 Mar 17.

Molecular Cytogenetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Center - CNIO , Madrid , Spain.

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http://dx.doi.org/10.3109/10428194.2014.891024DOI Listing
November 2014

Water relations, nutrient content and developmental responses of Euonymus plants irrigated with water of different degrees of salinity and quality.

J Plant Res 2013 Jul 11;126(4):567-76. Epub 2013 Jan 11.

Dpto Riego, Centro de Edafología y Biología Aplicada del Segura (CEBAS-CSIC), P.O. Box 164, 30100, Espinardo (Murcia), Spain.

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http://dx.doi.org/10.1007/s10265-012-0545-zDOI Listing
July 2013

Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22).

Haematologica 2012 Apr 18;97(4):534-7. Epub 2011 Nov 18.

Molecular Cytogenetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre - CNIO, Melchor Fernández Almagro, 3, 28029, Madrid, Spain.

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http://dx.doi.org/10.3324/haematol.2011.050567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3347656PMC
April 2012

Bioconjugate functionalization of thermally carbonized porous silicon using a radical coupling reaction.

Dalton Trans 2010 Dec 21;39(45):10847-53. Epub 2010 Oct 21.

Dipartimento di Scienza dei Materiali e Ingegneria Chimica, Politecnico di Torino, Corso Duca degli Abruzzi 24, Torino, 10129, Italy.

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http://xlink.rsc.org/?DOI=c0dt00936a
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http://dx.doi.org/10.1039/c0dt00936aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051409PMC
December 2010

A stable, label-free optical interferometric biosensor based on TiO2 nanotube arrays.

ACS Nano 2010 Apr;4(4):2070-6

Department of Metal and Materials Engineering, Kangnung National University 120, Kangnung Daehangno, Kangnung 210-702, Korea.

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http://dx.doi.org/10.1021/nn901312fDOI Listing
April 2010

A label-free porous alumina interferometric immunosensor.

ACS Nano 2009 Oct;3(10):3301-7

Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, California 92093, USA.

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http://pubs.acs.org/doi/10.1021/nn900825q
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http://dx.doi.org/10.1021/nn900825qDOI Listing
October 2009

The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer.

Hum Mol Genet 2009 Apr 19;18(7):1343-52. Epub 2009 Jan 19.

Lung Cancer Group, Molecular Pathology Programme, Centro Nacional de Investigaciones Oncologicas (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1093/hmg/ddp034DOI Listing
April 2009

The compatibility of hepatocytes with chemically modified porous silicon with reference to in vitro biosensors.

Biomaterials 2009 Jan 8;30(1):26-34. Epub 2008 Oct 8.

Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA 92093-0358, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S014296120800676
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http://dx.doi.org/10.1016/j.biomaterials.2008.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784167PMC
January 2009

Changes in leaf water relations, gas exchange, growth and flowering quality in potted geranium plants irrigated with different water regimes.

J Plant Physiol 2009 Mar 7;166(5):467-76. Epub 2008 Sep 7.

Departamento de Riego, Centro de Edafología y Biología Aplicada del Segura (CSIC), Murcia, Spain.

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http://dx.doi.org/10.1016/j.jplph.2008.06.015DOI Listing
March 2009

Microenvironment determines lineage fate in a human model of MLL-AF9 leukemia.

Cancer Cell 2008 Jun;13(6):483-95

Division of Experimental Hematology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ccr.2008.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486365PMC
June 2008

Porous SiO2 interferometric biosensor for quantitative determination of protein interactions: binding of protein A to immunoglobulins derived from different species.

Anal Chem 2007 Jan;79(1):327-34

Department of Chemistry and Biochemistry, University of California, San Diego, 9500 Gilman Drive, Department 0358; La Jolla, California 92093-0358, USA.

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http://dx.doi.org/10.1021/ac061476pDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2531294PMC
January 2007

Genomic analysis of the 8p11-12 amplicon in familial breast cancer.

Int J Cancer 2007 Feb;120(3):714-7

Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1002/ijc.22354DOI Listing
February 2007

The smart Petri dish: a nanostructured photonic crystal for real-time monitoring of living cells.

Langmuir 2006 Aug;22(16):7084-90

Department of Chemistry and Biochemistry, University of California-San Diego, 9500 Gilman Drive, Department 0358, La Jolla, CA 92093-0358, USA.

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http://dx.doi.org/10.1021/la060420nDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530423PMC
August 2006

Identification of overexpressed genes in frequently gained/amplified chromosome regions in multiple myeloma.

Haematologica 2006 Feb;91(2):184-91

Cytogenetics Unit, Spanish National Cancer Centre, (CNIO), C/ Melchor Fernandez Almagro 3, Madrid, 28029, Spain.

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February 2006

The accumulation of specific amplifications characterizes two different genomic pathways of evolution of familial breast tumors.

Clin Cancer Res 2005 Dec;11(24 Pt 1):8577-84

Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Center, Madrid, Spain.

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http://dx.doi.org/10.1158/1078-0432.CCR-05-1278DOI Listing
December 2005

Gains, losses and complex karyotypes in myeloid disorders: a light at the end of the tunnel.

Hematol Oncol 2005 Mar;23(1):18-25

Cytogenetics Unit, Centro Nacional de de Investigaciones Oncológicas (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1002/hon.744DOI Listing
March 2005

The 'yeast cell wall chip' - a tool to analyse the regulation of cell wall biogenesis in Saccharomyces cerevisiae.

Microbiology (Reading) 2005 Jul;151(Pt 7):2241-2249

Unidad de Genómica, Parque Científico de Madrid/UCM, Campus de Moncloa, Facultad de Ciencias Biológicas, Universidad Complutense de Madrid, 28040 Madrid, Spain.

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http://dx.doi.org/10.1099/mic.0.27989-0DOI Listing
July 2005

Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells.

Genes Chromosomes Cancer 2004 Nov;41(3):203-13

Laboratory of Molecular Aspects of Hematopoiesis, Sloan Kettering Institute, New York, New York 10021, USA.

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http://dx.doi.org/10.1002/gcc.20087DOI Listing
November 2004

Cytogenetic profile of myelodysplastic syndromes with complex karyotypes: an analysis using spectral karyotyping.

Cancer Genet Cytogenet 2004 Aug;153(1):39-47

Department of Human Genetics, Spanish National Cancer Centre, Melchor Fernández Almagro 3, 28029 Madrid, Spain.

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http://dx.doi.org/10.1016/j.cancergencyto.2003.12.014DOI Listing
August 2004

Early population differentiation in extinct aborigines from Tierra del Fuego-Patagonia: ancient mtDNA sequences and Y-chromosome STR characterization.

Am J Phys Anthropol 2004 Apr;123(4):361-70

Secció d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.1002/ajpa.10337DOI Listing
April 2004

Population data for 16 Y-chromosome STRs in four populations from Pyrenees (Spain).

Forensic Sci Int 2004 Feb;140(1):125-9

Departamento de Toxicología y Legislación Sanitaria, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1016/j.forsciint.2003.11.014DOI Listing
February 2004

De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19.

Genes Chromosomes Cancer 2003 Apr;36(4):406-12

Cytogenetics Unit, Department of Human Genetics, Spanish National Cancer Center, Melchior Fernandez Almagro, 3. 28029 Madrid, Spain.

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http://dx.doi.org/10.1002/gcc.10180DOI Listing
April 2003

STR data for nine Y-chromosomal loci in Guinea Equatorial (central Africa).

Forensic Sci Int 2002 Jun;127(1-2):142-44

Biología Forense, Departamento de Toxicología y Legislación Sanitaria, Facultad de Medicina, Universidad Complutense, 28040 Madrid, Spain.

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http://dx.doi.org/10.1016/s0379-0738(02)00120-2DOI Listing
June 2002

Three Y-chromosome STR frequencies in a population from equatorial Guinea (Central Africa).

J Forensic Sci 2002 Jan;47(1):224-5

Departamento de Biología Animal I, Facultad de Ciencias Biológicas, Universidad Complutense de Madrid, Spain.

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January 2002

Frequency data of nine Y-chromosomal STR loci in a sample from central Spain.

J Forensic Sci 2002 May;47(3):694-6

Departamento de Toxicología y Legislación Sanitaria, Facultad de Medicina, Universidad Complutense de Madrid, Spain.

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May 2002