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2012 in Brain [IF: 10.29]
María García-Murias3
Estimated H-index: 3
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Beatriz Quintáns14
Estimated H-index: 14
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Arias M10
Estimated H-index: 10
... more
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56 . Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte in Galicia, Spain), in the 17th century. We found the presence of the spinocerebellar ataxia 36 mutation co-segregating with disease i...
Ref 44Cited 32
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Miguel Blanco55
Estimated H-index: 55
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Jesús E. Blanco50
Estimated H-index: 50
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Jorge Blanco56
Estimated H-index: 56
... more
An epidemiological study was carried out to determine the incidence and the serotypes of verotoxigenic Escherichia coli (VTEC) that cause infections in Galicia (north-western Spain). Although, VTEC strains were isolated from 55 (14%) of the 387 calves sampled and the majority of bovine VTEC strains belonged to serotypes (026:H11 or H−, 091:H21, 0103:H2, 0105:H18, 0111:H−, 0113:H21, 0126:H−, 0128:H− and 0157:H7 or H−) previously associated with human haemorrhagic colitis (HC) and haemolyti...
Ref 37Cited 39
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Ignacio Rego9
Estimated H-index: 9
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M. Fernández-Moreno9
Estimated H-index: 9
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Carlos Fernández-López14
Estimated H-index: 14
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Objective: To analyse the mitochondrial DNA (mtDNA) haplogroups of patients with hip osteoarthritis (OA) and those of healthy controls in a Spanish population. Methods: mtDNA haplogroups were assigned to 550 cases of hip OA and 505 clinically asymptomatic controls. Sets of controls with healthy knees and hips (n = 179) and patients with knee and/or hip OA (n = 977) were also analysed in a multivariate analysis after adjusting for sex, age and smoking. Results: Individuals carrying haplogr...
Ref 15Cited 53
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2012 in The FASEB Journal [IF: 5.50]
Sandra Pacios9
Estimated H-index: 9
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Jun Kang5
Estimated H-index: 5
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Johnah Galicia1
Estimated H-index: 1
... more
Periodontitis is the most common lytic bone disease and one of the first clinical manifestations of diabetes. Diabetes increases the risk of periodontitis. The aim of the present study was to examine mechanisms by which diabetes aggravates periodontitis. Ligature-induced periodontitis was examined in Goto-Kakizaki rats with type 2 diabetes. A tumor necrosis factor (TNF)-specific-inhibitor, pegsunercept, was applied to diabetic rats after the onset of periodontal disease. Interferon-γ (IFN...
Ref 32Cited 71
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Concepción Núñez2
Estimated H-index: 2
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Manuel Barreiro5
Estimated H-index: 5
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J. Enrique Domínguez-Muñoz17
Estimated H-index: 17
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OBJECTIVES: Three mutations in CARD15 have been repeatedly shown to be involved in Crohn’s disease susceptibility, mainly in Caucasian individuals. However, those findings were not replicated in all populations studied so far. In this work, we studied the role of CARD15 mutations in a relatively homogeneous population from the Northwest of Spain, Galicia. METHODS: One hundred and sixty-five patients with Crohn’s disease and a similar number of healthy controls were recruited from a single...
Ref 32Cited 25
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Fernando Palos1
Estimated H-index: 1
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María E.R. García-Rendueles5
Estimated H-index: 5
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David Araújo-Vilar14
Estimated H-index: 14
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Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome (PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and hypothyroxinemia but normal TSH and free T3 (FT3). In family B, some affected members showed deafness but not goiter. Objective: Our objective was to identify the mutations causing PS and molecular mechanisms underlying the thyroid phenotypes. Interventions: Interventions included extraction of DNA and of thyroid tissu...
Ref 40Cited 19
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D. Peteiro-Gonzalez1
Estimated H-index: 1
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Jaemin Lee14
Estimated H-index: 14
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J. Rodriguez-Fontan1
Estimated H-index: 1
... more
Context: Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing intracellular retention with ultrastructural changes that resemble an endoplasmic reticulum storage disease. Objective: To reveal new aspects of thyroglobulin pathophysiology through clinical, cellular, molecular, and genetic studies in a family presenting with CH due t...
Ref 19Cited 14
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Andreia Oliveira16
Estimated H-index: 16
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Carla Lopes25
Estimated H-index: 25
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Fernando Rodríguez-Artalejo58
Estimated H-index: 58
Background: The Southern European Atlantic Diet (SEAD) is the traditional diet in northern Portugal and Galicia, a region in northwest Spain. Objective: The objective was to examine the association between adherence to the SEAD and the occurrence of nonfatal acute myocardial infarction (AMI). Design: This was a population-based case-control study in Porto, Portugal. Cases were patients aged 18 y who were hospitalized with an incident AMI (n = 820), and controls were individuals without AM...
Ref 35Cited 24
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Francesca Conti2
Estimated H-index: 2
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Saul Oswaldo Lugo-Reyes1
Estimated H-index: 1
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Lizbeth Blancas Galicia2
Estimated H-index: 2
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Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex. From the first year of life onward, most affected patients display multiple, severe, and recurrent infections caused by bacteria and fungi. Mycobacterial infections have also been reported in some patients. Objective Our objective was to assess the effect of mycobacterial disease in patients with CGD. Methods We an...
Ref 53Cited 22
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Alberto García-Castelo3
Estimated H-index: 3
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Javier García-Seara8
Estimated H-index: 8
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Fernando Otero-Raviña10
Estimated H-index: 10
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Abstract Introduction The aim of the study is to describe the natural history of an unselected population of patients with atrial fibrillation (AF) currently attending primary care services in a single health-service area in Galicia, north-western Spain. Methods AFBAR is a transverse prospective study in which 35 general practitioners within one health-service area have enrolled patients diagnosed with AF who presented at their clinics during a three-month recruiting period. Primary endpo...
Ref 62Cited 24
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