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1.
Sunita Managutti Anil Managutti Michael Pragasm 《Journal of maxillofacial and oral surgery》2012,11(1):109-114
Osteopetrosis (OP) is a rare congenital disorder (present at birth) in which the bones become over dense. This results from
an imbalance between the formation of bone and the resorption of the bone. Thickening of the bones which become abnormally
dense due to an inherited defect in bone resorption, the process in which old bone is broken down and removed so that new
bone can be added to the skeleton. Osteoclasts are the cells responsible for bone resorption. In osteopetrosis the osteoclasts
do not perform normally. This flaw in bone resorption results in bones that are abnormally dense, yet are fragile and easily
broken. Osteopetrosis is also known as Albers–Schonberg disease, generalized congenital osteosclerosis, ivory bones, marble
bones, osteosclerosis fragilis generalisata. In this article, we have described about the diagnosis and medical and surgical
management of osteopetrosis reported case to our hospital. 相似文献
2.
《Joint, bone, spine : revue du rhumatisme》2022,89(3):105301
Autophagy is a ubiquitous cellular process, allowing the removal and recycling of damaged proteins and organelles. At the basal level, this process plays a role in quality control, thus participating in cellular homeostasis. Autophagy can also be induced by various stresses, such as nutrient deprivation or hypoxia, to allow the cell to survive until conditions improve. In recent years, the role of this process has been widely studied in many pathologies such as neurodegenerative diseases or cancers. In bone tissue, various studies have shown that autophagy is involved in the survival, differentiation and activity of osteoblasts, osteocytes and osteoclasts. The evolution of this knowledge has led to the identification of new molecular pathophysiological mechanisms in bone pathologies. This review reports the current state of knowledge on the role of autophagy in 4 bone diseases: osteoporosis, which seems to be associated with a decrease in autophagy, osteopetrosis and Paget's disease where the course of the autophagic process is disturbed, and finally osteosarcoma where autophagy seems to play a protumoral role. A better understanding of the involvement of autophagy in these pathologies should eventually lead to the identification of new potential therapeutic targets. 相似文献
3.
石骨症1例 总被引:2,自引:0,他引:2
患者男,16岁,于2007年8月22日在做跳远动作时摔倒,致右侧上臂及右大腿肿痛畸形。查体:神志清楚,智力正常,全身淋巴结不大,肝肋下2.5cm,脾肋下1.5cm,身高156cm。化验:RBC3.86×1012/L、WBC9.87×109/L、N51%、L45%、嗜碱C1%、嗜酸2%、单核1%、ESR7mm/h。胸片两肺未见明显异常。患者8岁时曾在家中跌倒致右侧胫腓骨中段骨折,在外院行钢板内固定,8个月后行走正常。患者否认石骨症家族史。X线检查(图1、2):右侧肱骨干骺端及股骨近端干骺部可见多条横行浓密带;髂骨翼有晕轮样致密带;锁骨、肩胛骨及肋骨骨皮质增厚,髓腔模糊甚至消失;脊柱表… 相似文献
4.
5.
Osteoprotegerin and Osteoprotegerin-Ligand Balance: a New Paradigm in Bone Metabolism Providing New Therapeutic Targets 总被引:1,自引:0,他引:1
Osteoprotegerin-ligand, also called Osteoclast Differentiation Factor or RANK-ligand, its receptor RANK and its decoy receptor
Osteoprotegerin are key molecules regulating osteoclast differentiation and activation. In this view we discuss structure
and expression of these molecules, the genetic models addressing their function and their role in in vivo models of osteoclast
differentiation and activation. The new paradigm that has evolved from these studies, is not only important in normal bone
homeostasis but also appears to play a role in different diseases that affect the skeleton, such as osteoporosis, inflammatory
joint disease and cancer. It has opened a new era in bone research by increasing our molecular knowledge and providing new
therapeutic targets in bone disease.
5 November 2000 / Accepted: 15 December 2000 相似文献
6.
本文对一个骨型白血病阳性鸡群的112只成年蛋用鸡进行诊断性调查,普通临床检查法只检出3例阳性,但首次试用一侧后肢X线照相法检查,检出45例阳性,使检出率提高了16倍,并初步揭示被检鸡的发病率竟高达46.39%(45/97)。阳性病例的胫骨100%发生病变,而跖骨兼有病变者仅为24.44%。经对97只鸡后肢X线照片进行胫骨骨外径及骨皮质厚度测量,结果52例阴性鸡胫骨中部骨外径的正常值平均为6.16mm(5.5~7.0mm),正常骨皮质厚度平均为0.64mm(0.4~0.9mm)。45例阳性鸡中的42例(占93.33%)隐性型病鸡,骨外径在正常值范围内。其中之轻度患鸡骨皮质厚度平均为0.81mm;中度者为2.12mm。只占阳性鸡6.67%的3例临床型病鸡,胫骨中部外径超过7.5mm,以至14mm,骨皮质厚度超过1.5mm,以至9mm。 相似文献
7.
Eliane Chouery Alessandra Pangrazio Annalisa Frattini Anna Villa Liesbeth Van Wesenbeeck Elke Piters Wim Van Hul Fraser P Coxon Tabitha Schouten Miep Helfrich Gérard Lefranc André Mégarbané 《Journal of bone and mineral research》2010,25(3):676-680
Osteoscleroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density. Here we report on a consanguineous Lebanese family in which two sisters, aged 39 and 36 years, exhibit a severe genu varum, a square‐face appearance, high forehead, slight proptosis of the eyes, symmetric enlargement of the jaw, protruding chin, and short stature. Bone X‐rays showed the presence of hyperostosis of the cranial base and vault with increased density of the orbits, hyperostosis of the bones, thickening of the cortices, diaphyseal modeling defects, cortical thickening of the medullary cavity, mild enlargement of the medullary cavity of the short long bones, short femoral necks, increased width of the ribs, and narrow interpedicular distances of the lower lumbar spine. Osteodensitometry showed values 200% to 300% above values for age. A cervical MRI revealed the presence of a diffuse osteosclerosis with calcification of the posterior vertebral ligament and a narrow canal between C2 and T2. Blood test results were unremarkable. Serum osteocalcin levels were in the normal range, whereas high values of serum C ‐ telopeptide were noted. A bone biopsy showed only the presence of compact bone and did not allow for histomorphometric analysis. Molecular studies excluded genes known to be involved in sclerosing bone dysplasias as the cause of this condition. In vitro analysis of osteoclast function indicated that contrary to most cases of autosomal recessive osteopetrosis, osteoclasts both formed and resorbed but exhibited a small decrease in resorptive activity compared with osteoclasts generated from normal control individuals. Differential diagnoses are discussed, and the possibility that this may be a novel clinical entity is raised. © 2010 American Society for Bone and Mineral Research. 相似文献
8.
目的通过对1例常染色体隐性遗传性骨硬化症(ARO)患儿临床表型和致病基因的研究,提高临床医师对这类少见恶性遗传性疾病的认识。方法对此例ARO患儿进行生化指标检测、腹部超声和骨骼X线检查,同时对本例患儿及其父母、祖父母和外祖父母进行T细胞免疫调节子1基因(TCIRG1)全编码外显子测序,并以100位健康志愿者作为基因突变分析的对照。结果该例患儿血常规示血红蛋白74 g/L,血小板24×109/L;血清碱性磷酸酶(ALP)达1 115 U/L;腹部超声检查示肝脾肿大,上肢和胸部X线可见典型的骨密度增高。患儿及其母亲和外祖母均为TCIRG1基因3号外显子第78位核苷酸发生杂合移码突变(3705C/-)携带者。而在100例健康者中未检出该突变。结论新发现的TCIRG1基因外显子3杂合移码突变(3705C/-)是本例ARO患儿的致病突变位点,此基因突变导致脾肿大、严重贫血和血小板减少等严重的临床表现,因此基因检测对于诊断骨硬化症至关重要。 相似文献
9.
10.
Intravenous injection of a single dose of colchicine into inbred strains of BALB/c and CFW/L1 mice and into WAG rats did
not effect rapid intramedullar bone formation and resorption, as has been claimed by the research group from Tokyo Medical
and Dental University [14–17]. The applied doses of colchicine arrested metaphase during the first 4 hours postadministration
and were noxious for hemopoietic tissue (necrosis of bone marrow was evident in 2 and 4 day specimens), but on longitudinal,
serial sections of long bones there was no evidence of stimulation of osteogenesis at any point in time (2–26-day specimens).
It is postulated that the system of ectopic osteogenesis by colchicine injection is not reproducible in mice and WAG rats,
and the apparently osteogenic effect of colchicine, observed by the Ogura group [14–17], was mistakenly described as congenital
osteopetrosis.
Received: 10 May 1996 / Accepted: 31 December 1996 相似文献