Publications by authors named "Carlos Prada"

84Publications

Introduction to the special issue on Clinical Genetics in Latin America.

Am J Med Genet C Semin Med Genet 2020 12 22;184(4):873-875. Epub 2020 Dec 22.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

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December 2020

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.

Am J Med Genet C Semin Med Genet 2020 12 10;184(4):1042-1051. Epub 2020 Dec 10.

Department of Genetics, Fundación Valle del Lili, Cali, Colombia.

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December 2020

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.

Am J Med Genet C Semin Med Genet 2020 12 21;184(4):996-1008. Epub 2020 Nov 21.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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December 2020

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.

Eur J Med Genet 2021 Jan 12;64(1):104103. Epub 2020 Nov 12.

Cincinnati Children's Hospital Medical Center: Division of Human Genetics, United States; Cincinnati Children's Hospital Medical Center: Department of Pediatrics, University of Cincinnati College of Medicine, United States.

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January 2021

Speciation-by-depth on coral reefs: Sympatric divergence with gene flow or cryptic transient isolation?

J Evol Biol 2021 Jan 20;34(1):128-137. Epub 2020 Nov 20.

Department of Biological Sciences, Louisiana State University, Baton Rouge, LA, USA.

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January 2021

Cryptic lineages respond differently to coral bleaching.

Mol Ecol 2020 11 1;29(22):4265-4273. Epub 2020 Oct 1.

College of the Environment and Life Sciences, University of Rhode Island, Kingston, RI, USA.

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November 2020

Ophthalmic genetics in South America.

Am J Med Genet C Semin Med Genet 2020 09 28;184(3):753-761. Epub 2020 Aug 28.

Department of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo, Brazil.

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September 2020

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

Am J Med Genet A 2020 10 11;182(10):2214-2221. Epub 2020 Aug 11.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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October 2020

How Successful Is Antibiotic Treatment for Superficial Surgical Site Infections After Open Fracture? A Fluid Lavage of Open Wounds (FLOW) Cohort Secondary Analysis.

Clin Orthop Relat Res 2020 12;478(12):2846-2855

C. Prada, S. Bzovsky, B. Petrisor, M. Bhandari, S. Sprague, Division of Orthopaedic Surgery, Department of Surgery, McMaster University, Hamilton, Ontario, Canada S. L. Tanner, K. Jeray, Department of Orthopaedic Surgery, Prisma Health-Upstate, Greenville, SC, USA F. A. Marcano-Fernández, Orthopaedic Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain E. H. Schemitsch, Department of Surgery, University of Western Ontario, London, Ontario, Canada M. Bhandari, S. Sprague, Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Ontario, Canada.

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December 2020

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Neuron 2020 05 12;106(4):589-606.e6. Epub 2020 Mar 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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May 2020

Physical outcome measures: The role of strength and range of motion in orthopaedic research.

Injury 2020 May 11;51 Suppl 2:S106-S110. Epub 2019 Nov 11.

Center for Evidence-Based Orthopaedics, Division of Orthopaedic Surgery, McMaster University, Hamilton, Ontario, Canada.

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May 2020

Cochrane in CORR®: Conservative Management Following Closed Reduction of Traumatic Anterior Dislocation of the Shoulder.

Clin Orthop Relat Res 2019 09;477(9):1984-1990

C. Prada, M. Bhandari, Division of Orthopaedics, Department of Surgery, McMaster University, Hamilton, ON Canada, Centre for Evidence-Based Orthopaedics, 293 Wellington St. N, Suite 110, Hamilton, ON L8L 8E7 Canada.

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September 2019

Results of a New Telemedicine Strategy in Traumatology and Orthopedics.

Telemed J E Health 2020 05 9;26(5):665-670. Epub 2019 Jul 9.

Servicio de Salud del Reloncaví, Puerto Montt, Los Lago, Chile.

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May 2020

Ipsilateral elbow and shoulder dislocation: a case report.

J Shoulder Elbow Surg 2019 07;28(7):e232-e237

Universidad San Sebastián, Concepción, Región del Bío Bío, Chile.

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July 2019

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.

Am J Med Genet A 2019 04 14;179(4):608-614. Epub 2019 Feb 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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April 2019

Gene annotation errors are common in the mammalian mitochondrial genomes database.

BMC Genomics 2019 Jan 22;20(1):73. Epub 2019 Jan 22.

Providence St. Joseph Health and Institute for Systems Biology, 401 Terry Avenue N, Seattle, WA, 98109, USA.

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January 2019

Vitamin D deficiency and pre-eclampsia in Colombia: PREVitD study.

Pregnancy Hypertens 2018 Oct 14;14:240-244. Epub 2018 Mar 14.

Fundación Cardiovascular de Colombia FCV, Colombia; Fundación Universitaria FCV, Colombia; Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH, United States; Division of Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Electronic address:

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October 2018

Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

Mol Genet Metab 2018 03 5;123(3):357-363. Epub 2018 Jan 5.

Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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March 2018

Cardiac Rhabdomyomas in Tuberous Sclerosis Complex.

J Pediatr 2018 01 8;192:264-264.e1. Epub 2017 Nov 8.

Fundación Cardiovascular de Colombia Hospital Internacional de Colombia Floridablanca, Colombia; Division of Human Genetics Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati, Ohio.

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January 2018

Case report: Left ventricular noncompaction cardiomyopathy and RASopathies.

Eur J Med Genet 2017 Dec 12;60(12):680-684. Epub 2017 Sep 12.

The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, United States.

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December 2017

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Am J Med Genet A 2017 Oct 17;173(10):2814-2820. Epub 2017 Aug 17.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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October 2017

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.

Analyst 2017 Sep;142(18):3380-3387

Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.

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September 2017

Effective Dispersal of Caribbean Reef Fish is Smaller than Current Spacing Among Marine Protected Areas.

Sci Rep 2017 07 5;7(1):4689. Epub 2017 Jul 5.

Smithsonian Tropical Research Institute, Box 2072, Balboa, Panama.

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July 2017

Functional and Genomic Features of Human Genes Mutated in Neuropsychiatric Disorders.

Open Neurol J 2016 11;10:143-148. Epub 2016 Nov 11.

College of Sciences, University of Texas at San Antonio, San Antonio, Texas, USA.

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November 2016

Empty Niches after Extinctions Increase Population Sizes of Modern Corals.

Curr Biol 2016 12 17;26(23):3190-3194. Epub 2016 Nov 17.

Department of Biology, The Pennsylvania State University, 208 Mueller Lab, State College, PA 16802, USA; Department of Invertebrate Zoology, National Museum of Natural History, Smithsonian Institution, 10(th) and Constitution Avenue, NW Washington, DC 20560-0163, USA; Smithsonian Tropical Research Institute, Smithsonian Institution, 9100 Panama City PL, Washington, DC 20521, USA. Electronic address:

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December 2016

Prevalence of anti-Trypanosoma cruzi antibodies in women of childbearing age in Socotá, Boyacá, 2014.

Biomedica 2016 Feb 23;36(0):90-6. Epub 2016 Feb 23.

Grupo de Investigación del Programa de Bacteriología y Laboratorio Clínico, Facultad de Ciencias de la Salud, Universidad de Boyacá, Tunja, Colombia.

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February 2016

Comments regarding Marco et al., 2015, 'The two sides of border disease in Pyrenean chamois (Rupicapra pyrenaica): silent persistence and population collapse'.

Anim Health Res Rev 2016 12 18;17(2):77-78. Epub 2016 Aug 18.

Área de Ecología,Departamento de Ciencias Agrarias y Medio Natural,Escuela Politécnica Superior de Huesca, Universidad de Zaragoza,Huesca,Spain.

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December 2016

A comparative agreement evaluation of two subaxial cervical spine injury classification systems: the AOSpine and the Allen and Ferguson schemes.

Eur Spine J 2016 07 5;25(7):2185-92. Epub 2016 Mar 5.

Department of Orthopaedic Surgery, School of Medicine, Pontificia Universidad Catolica de Chile, Marcoleta 352, Santiago, Chile.

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July 2016

An Independent Inter- and Intraobserver Agreement Evaluation of the AOSpine Subaxial Cervical Spine Injury Classification System.

Spine (Phila Pa 1976) 2017 Mar;42(5):298-303

Department of Orthopaedic Surgery, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile.

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March 2017

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

J Pediatr 2015 Oct 29;167(4):851-856.e1. Epub 2015 Jul 29.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.

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October 2015

The prevalence of degenerative or incidental findings in the lumbar spine of pediatric patients: a study using magnetic resonance imaging as a screening tool.

Eur Spine J 2016 Feb 8;25(2):596-601. Epub 2015 Jul 8.

Department of Orthopaedic Surgery, School of Medicine, Pontificia Universidad Catolica de Chile, Marcoleta 352, Santiago, Chile.

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February 2016

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

Eur J Med Genet 2015 Mar 12;58(3):180-3. Epub 2014 Dec 12.

Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Electronic address:

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March 2015

Strong natural selection on juveniles maintains a narrow adult hybrid zone in a broadcast spawner.

Am Nat 2014 Dec 17;184(6):702-13. Epub 2014 Oct 17.

Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana 70803.

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December 2014

Endothelial dysfunction and preeclampsia: role of oxidative stress.

Front Physiol 2014 10;5:372. Epub 2014 Oct 10.

Translational Biomedical Research Group, Biotechnology, Innovation and Technology Development, Cardiovascular Foundation of Colombia Floridablanca, Colombia ; Graduate Program in Biomedical Sciences, Faculty of Health, Universidad del Valle Cali, Colombia.

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October 2014

An independent interobserver reliability and intraobserver reproducibility evaluation of the new AOSpine Thoracolumbar Spine Injury Classification System.

Spine (Phila Pa 1976) 2015 Jan;40(1):E54-8

*Department of Orthopaedic Surgery, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile; and †Department of Orthopaedic Surgery, Clinica Alemana de Santiago, Chile.

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January 2015

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics.

Mamm Genome 2014 Dec 3;25(11-12):618-35. Epub 2014 Aug 3.

Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia,

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December 2014

Cryptic diversity hides host and habitat specialization in a gorgonian-algal symbiosis.

Mol Ecol 2014 07 16;23(13):3330-40. Epub 2014 Jun 16.

Department of Biological Sciences, Louisiana State University, Baton Rouge, LA, 70803, USA.

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July 2014

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Eur J Med Genet 2014 Jul 24;57(7):339-344. Epub 2014 Apr 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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July 2014

Globus pallidus involvement as initial presentation of methylmalonic acidemia.

Mov Disord 2014 Jun 21;29(7):870. Epub 2014 Apr 21.

Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Colombia; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, USA.

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June 2014

The fifty most cited Latin-American articles in the orthopaedic literature.

Int Orthop 2014 Aug 26;38(8):1723-9. Epub 2013 Nov 26.

Department of Orthopaedic Surgery, School of Medicine, Pontificia Universidad Catolica de Chile, Marcoleta 352, Santiago, Chile,

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August 2014

Neuronopathic lysosomal storage diseases: clinical and pathologic findings.

Dev Disabil Res Rev 2013 ;17(3):226-46

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Ohio, USA.

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March 2014

Long prereproductive selection and divergence by depth in a Caribbean candelabrum coral.

Proc Natl Acad Sci U S A 2013 Mar 28;110(10):3961-6. Epub 2013 Jan 28.

Department of Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, USA.

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March 2013

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

J Child Neurol 2013 Dec 8;28(12):1681-5. Epub 2012 Nov 8.

1Department of Pediatrics, Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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December 2013

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition.

Acta Neuropathol 2013 Jan 26;125(1):159-68. Epub 2012 Oct 26.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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January 2013

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

Pediatrics 2012 Aug 9;130(2):e456-60. Epub 2012 Jul 9.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.

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August 2012

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

Mol Genet Metab 2012 Aug 15;106(4):482-4. Epub 2012 Jun 15.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.

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August 2012

Genetic causes of macroglossia: diagnostic approach.

Pediatrics 2012 Feb 16;129(2):e431-7. Epub 2012 Jan 16.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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February 2012

Severe cervical scoliosis in the fetus.

Prenat Diagn 2011 Dec 26;31(12):1198-202. Epub 2011 Oct 26.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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December 2011

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

J Pediatr 2012 Mar 11;160(3):461-7. Epub 2011 Oct 11.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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March 2012

Cardiac disease in methylmalonic acidemia.

J Pediatr 2011 Nov 23;159(5):862-4. Epub 2011 Jul 23.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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November 2011

Lethal presentation of neurofibromatosis and Noonan syndrome.

Am J Med Genet A 2011 Jun 12;155A(6):1360-6. Epub 2011 May 12.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

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June 2011

Testing chromosomal phylogenies and inversion breakpoint reuse in Drosophila. The martensis cluster revisited.

Chromosome Res 2011 Feb 11;19(2):251-65. Epub 2011 Mar 11.

Departament de Genètica i de Microbiologia, Facultat de Biociències, Edifici C, Universitat Autònoma de Barcelona, 08193, Bellaterra, Barcelona, Spain.

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February 2011

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Rheumatology (Oxford) 2010 Jun 18;49(6):1056-62. Epub 2010 Mar 18.

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

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June 2010

Phenotypic plasticity or speciation? A case from a clonal marine organism.

BMC Evol Biol 2008 Feb 13;8:47. Epub 2008 Feb 13.

Department of Marine Sciences, University of Puerto Rico-Mayagüez, Isla Magueyes Laboratories, PO Box 908, Lajas, PR 00667.

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February 2008

CD154 induces p73 to overcome the resistance to apoptosis of chronic lymphocytic leukemia cells lacking functional p53.

Blood 2006 Nov 1;108(10):3450-7. Epub 2006 Jun 1.

Moores Cancer Center, University of California-San Diego School of Medicine, La Jolla, CA 92093-0663, USA.

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November 2006

Drinking habits throughout the seasons of the year in the Spanish population.

J Stud Alcohol 2002 Sep;63(5):577-80

Department of Pharmacology and Therapeutics, Faculty of Medicine, University of Valladolid, Spain.

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September 2002

Do Spanish patients drink alcohol while undergoing treatment with benzodiazepines?

Alcohol 2002 Jan;26(1):31-4

Drugs and Alcohol Research Group, Department of Pharmacology and Therapeutics, Faculty of Medicine, University of Valladolid, 47005 Valladolid, Spain.

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January 2002