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排序方式: 共有510条查询结果,搜索用时 281 毫秒
1.
Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. 下载免费PDF全文
K Fujieda T Tajima J Nakae S Sageshima K Tachibana S Suwa T Sugawara J F Strauss rd 《The Journal of clinical investigation》1997,99(6):1265-1271
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH in which the synthesis of all gonadal and adrenal cortical steroids is markedly impaired. We report here the clinical, endocrinological, and molecular analyses of two unrelated Japanese kindreds of 46,XX subjects affected with lipoid CAH who manifested spontaneous puberty. Phenotypic female infants with 46,XX karyotypes were diagnosed with lipoid CAH as newborns based on a clinical history of failure to thrive, hyperpigmentation, hyponatremia, hyperkalemia, and low basal values of serum cortisol and urinary 17-hydroxycorticosteroid and 17-ketosteroid. These patients responded to treatment with glucocorticoid and 9alpha-fludrocortisone. Spontaneous thelarche occurred in association with increased serum estradiol levels at the age of 10 and 11 yr, respectively. Pubic hair developed at the age of 12 yr 11 mo in one subject and menarche was at the age of 12 yr in both cases. Both subjects reported periodic menstrual bleeding and subsequently developed polycystic ovaries. To investigate the molecular basis of the steroidogenic lesion in these patients, the StAR gene was characterized by PCR and direct DNA sequence analyses. DNA sequence analysis revealed that one patient is homozygous for the Gln 258 Stop mutation in exon 7 and that the other patient is a compound heterozygote with the Gln 258 Stop mutation and a single A deletion at codon 238 in the other allele causing a frame-shift, which renders the StAR protein nonfunctional. These findings demonstrate that ovarian steroidogenesis can be spared to some extent through puberty when the StAR gene product is inactive. This is in marked contrast to the early onset of severe defects in testicular and adrenocortical steroidogenesis which are characteristics of this disease. 相似文献
2.
Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts. 下载免费PDF全文
N Hoshi M Fujita M Mikuni T Fujino K Okuyama Y Handa H Yamada T Sagawa H Hareyama Y Nakahori K Fujieda J A Kant K Nagashima S Fujimoto 《Journal of medical genetics》1998,35(10):852-856
We report an unusual case of a 55 year old Japanese woman with a seminoma but relatively normal menses. The patient was a phenotypic female with late onset menarche (18 years of age), who was amenorrhoeic for the first year, followed by menses of one to three days' slight flow with dysmenorrhoea, but an otherwise normal menstrual history. A typical seminoma was removed from the left adnexal region and an immature testis was identified separately as an associated right adnexal mass. Repeated karyotypic studies on peripheral blood lymphocyte cultures showed only 46,X,-Y,t(Y;15)(q12;p13). Cytogenetic examination of the patient's younger brother, who had fathered three healthy children, showed an identical karyotype. Mosaicism of 46,X,-Y,t(Y;15)(q12;p13)/45,X cell lines was found in skin samples from the patient's elbow and genital regions, although there were no clinical stigmata of Turner syndrome. An androgen receptor binding assay of cultured genital skin fibroblasts was negative. Molecular analysis using Southern blot hybridisation, PCR, and direct DNA sequencing showed that neither the patient nor her brother had a detectable deletion or other abnormalities of Y chromosome sequences, including the SRY (sex determining region of the Y chromosome) gene sequence. These findings suggest that Turner mosaicism of the 45,X cell line may have contributed to this atypical presentation in an XY female, although we cannot exclude abnormalities of other genes related to sex differentiation. 相似文献
3.
Depression of delayed-type hypersensitivity in mice with hypothalamic lesion induced by monosodium glutamate: involvement of neuroendocrine system in immunomodulation. 下载免费PDF全文
K Kato N Hamada N Mizukoshi K Yamamoto T Kimura C Ishihara Y Fujioka T Kato K Fujieda N Matsuura 《Immunology》1986,58(3):389-395
Delayed-type hypersensitivity (DTH) was depressed in mice that had been treated with monosodium glutamate (MSG) in their suckling period. Analysis of the DTH depression by use of the macrophage migration inhibition assay showed dysfunction of DTH effector T cells. The neuronal loss of nuclei in the hypothalamus, which elaborates the corticotropin-releasing factor and the hypersecretion of adrenocorticotrophic hormone, was observed in the MSG-treated mice. Therefore, DTH response may be modulated by the neuroendocrine system. 相似文献
4.
Nishiya K Chikazawa H Matsumori A Chijiwa T Tahara K Morita T Hosokawa T Ito H Hashimoto K Fujieda M 《Rinsho byori. The Japanese journal of clinical pathology》1999,47(2):185-187
Antineutrophil cytoplasmic antibodies (ANCA) for two antigens, i.e. myeloperoxidase (MPO) and lactoferrin (LF) in sera from 19 IgA nephropathy (IgAN), 3 adult Henoch-Sch?nlein purpura (HSP) and 8 child HSP patients were examined by enzyme-linked immunoabsorbent assay (ELISA) for immunoglobulin isotypes. All of child HSP patients showed negative ANCA. On the other hand, one IgAN patient and two adult HSP patients showed weak positivity for IgA class anti-MPO antibody. There was no patients who showed positivity for IgG and IgM class anti-MPO antibody. In anti-LF antibody, one IgAN and one adult HSP showed positivity in IgG class; 2 IgAN and 2 HSP in IgA class and 2 IgAN and one HSP in IgM class. These results indicate that adult HSP patients have higher prevalence of IgA class anti-MPO antibody and anti-LF antibody than IgAN or child HSP. 相似文献
5.
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia 总被引:1,自引:0,他引:1
Nakae J; Tajima T; Sugawara T; Arakane F; Hanaki K; Hotsubo T; Igarashi N; Igarashi Y; Ishii T; Koda N; Kondo T; Kohno H; Nakagawa Y; Tachibana K; Takeshima Y; Tsubouchi K; Strauss JF rd; Fujieda K 《Human molecular genetics》1997,6(4):571-576
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal
hyperplasia (lipoid CAH) representing 16 different families was examined to
identify the genetic alterations of steroidogenic acute regulatory protein
(StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY
karyotype. Six of the 46,XX patients have experienced spontaneous pubertal
changes including breast development and irregular menstruation whereas
none of the 46,XY subjects displayed pubertal changes. Eight different
mutations were identified. Sixteen patients were either homozygotes or
compound heterozygotes for the Q258X mutation. The seven other mutations
identified were 189delG, 246insG, 564del13bp, 838delA, Q212X, A218V and
M225T. The 189delG, 246insG, 546del13bp and Q212X mutants encode truncated
proteins. COS-1 cells transfected with expression vectors encoding cDNAs
for the mutant StAR proteins which affect the C-terminus, 838delA, A218V
and Q258X, exhibited no steroidogenesis enhancing activity. However, the
M225T mutant retained some steroidogenic activity. The patient with the
M225T mutation had late onset of this disorder and some capacity to secrete
testosterone in response to hCG. These findings suggest: (i) that the Q258X
mutation can be used as a genetic marker for the screening of Japanese for
lipoid CAH, (ii) that the C-terminus of StAR plays an important role in the
protein's activity and (iii) that there are differences in the extent of
functional impairment of the testis and ovaries in lipoid CAH.
相似文献
6.
We investigated the synergetic effects of 1-(5-isoquinolinesulfonyl)-2-methylpiperazine dihydrochloride (H-7) on cis-diamminedichloroplatinum(II) (CDDP) cytotoxicity to KB cells, a human pharyngeal carcinoma cell line, and explored the possible mechanism whereby it exerted these effects. In vitro treatment with H-7 markedly decreased protein kinase C (PKC) activity in KB cells and significantly sensitized the cells to CDDP. Treatment of KB cells with H-7 induced a dose-dependent depletion of intracellular glutathione (GSH) levels. These results suggest that the decreased GSH content induced by H-7 may be involved in sensitizing KB cells to CDDP. 相似文献
7.
M. Fujieda N. Oishi K. Naruse M. Hashizume K. Nishiya T. Kurashige K. Ito 《Archives of disease in childhood》1998,78(3):240
AIM—To evaluate the clinical significance of soluble thrombomodulin and antiendothelial cell antibodies (AECA) in children with Henoch-Schönlein purpura.METHODS—Binding of serum AECA to bovine glomerular endothelial cells was evaluated by enzyme linked immunosorbent assay, cytotoxicity against glomerular endothelial cells by spectrophotometric assay, and soluble thrombomodulin concentrations by sandwich enzyme immunoassay.RESULTS—IgA AECA were detected in seven of 15 patients with Henoch-Schönlein purpura and nephritis, but were not detected in patients without nephritis or in controls. Patients with Henoch-Schönlein nephritis had raised titres of IgA AECA and serum thrombomodulin; severe proteinuria and renal histological changes were associated with raised titres of IgA AECA and raised serum thrombomodulin. No subjects had complement dependent cytotoxicity against glomerular endothelial cells.CONCLUSIONS—High titres of IgA AECA and raised serum thrombomodulin may be clinically useful markers of renal involvement in patients with Henoch-Schönlein purpura. 相似文献
8.
No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short
Children with GH Treatment
Toshiaki Tanaka Kenji Fujieda Susumu Yokoya Akira Shimatsu Katsuhiko Tachibana Hiroyuki Tanaka Takakuni Tanizawa Akira Teramoto Toshiro Nagai Yoshikazu Nishi Yukihiro Hasegawa Kunihiko Hanew Keinosuke Fujita Reiko Horikawa Goro Takada Masao Miyashita Tadashi Ohno Kazuo Komatsu 《Clinical Pediatric Endocrinology》2006,15(1):15-21
It is still in doubt whether the standard-dose growth hormone (GH) used in Japan (0.5
IU/kg/week, 0.167 mg/kg/week) for growth hormone deficiency is effective for achieving
significant adult height improvement in non-growth hormone deficient (non-GHD) short
children. We compared the growth of GH-treated non-GHD short children with that of
untreated short children to examine the effect of standard-dose GH treatment on non-GHD
short children. GH treatment with recombinant human growth hormone (rhGH) was started
before the age of 11 yr in 64 boys and 76 girls with non-GHD short stature registered at
the Foundation for Growth Science who have now reached their adult height. In 119
untreated boys and 127 untreated girls whose height standard deviation score (SDS) was
below –2 SD at the age of 6 yr, height growth was followed until 17 yr. Height SDS was
significantly lower before GH treatment in the GH-treated group than at the age of 6 yr in
the untreated group, in both sexes. Adult height and adult height SDS were significantly
greater in the untreated group than in the GH-treated group, in both sexes, although the
change in height SDS did not differ significantly. Height SDS was significantly lower
before GH treatment in the GH-treated group than at the age of 6 yr in the untreated
group, so 57 boys and 57 girls whose height SDS at the age of 6 yr in the untreated group
closely matched the height SDS before GH treatment in the GH-treated group were chosen for
comparison. Height SDS did not differ significantly between the GH-treated group before GH
treatment and the untreated group at the age of 6 yr, nor were there differences between
these subgroups in adult height, adult height SDS, or height SDS change, in either sex.
The effect of GH treatment is reported to be dose-dependent and doses over 0.23 mg/kg/week
are reported to be necessary to improve adult height in non-GHD short children. Currently,
the GH dose is fixed at 0.175 mg/kg/week in Japan, and we expected to find, and indeed
concluded, that ordinary GH treatment in Japanese, non-GHD short children does not improve
adult height. 相似文献
9.
Mikami A Fukushi M Oda H Fujita K Fujieda K 《The Southeast Asian journal of tropical medicine and public health》1999,30(Z2):100-102
A screening program for congenital adrenal hyperplasia (CAH) in Sapporo began in 1982, 7 years prior to the introduction of the national program. Since its inception, testing has involved the detection of 17-hydroxyprogesterone (17-OHP) in dried blood samples, using ELISA. Up to the end of March 1998, of 298,731 newborn screened, second samples were requested in 1,723 cases (0.6%). This number included 789 newborns who weighed less than 2,000 gm at birth. A total of 14 cases were diagnosed with 21-hydroxylase deficiency (21-OHD). "Salt-wasting type (SW)" outnumbered "simple virilizing type (SV)" by 11:3. The ratio of male to female was a converse. but unrelated, 3:11. Our study from 1982-1997 revealed that the incidence of 21-OHD in Sapporo City was 1:21.338, markedly similar to the worldwide incidence of 1:15,000. In order to improve the program, other type of analysis are also currently in use and under evaluation. These include highly sensitive HPLC analysis for 17-OHP and molecular analysis to identify some mutations associated with the 21-OHD gene (CYP21). These methodologies are very useful for the confirmation of information acquired from dried blood specimens. 相似文献