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1.
H.-D. Rott 《Clinical genetics》1984,26(1):36-38
Dermatoglyphic investigation of palm prints in patients with Incontinentia pigmenti revealed in five of eight cases a partial ridge dissociation with lack of sweat gland pores. This disease can, therefore, be accepted as a second X-linked anhidrotic ectodermal dysplasia, which, however, is only segregated in the female. 相似文献
2.
Bardaro T Falco G Sparago A Mercadante V Gean Molins E Tarantino E Ursini MV D'Urso M 《Human mutation》2003,21(1):8-11
Familial incontinentia pigmenti (IP) is a rare X-linked dominant disorder that affects ectodermal tissues. Over 90% of IP carrier females have a recurrent genomic deletion of exons 4-10 of the NEMO (IKBKG-IKKgamma) gene, which encodes a regulatory component of the IkB kinase complex, required to activate the NF-kB pathway. In IP, mutations in NEMOlead to the complete loss of NF-kB activation creating a susceptibility to cellular apoptosis in response to TNF-alpha. This condition is lethal for males during embryogenesis while females, who are mosaic as a result of X-inactivation, can survive. Recently, a second nonfunctional copy of the gene, DeltaNEMO, was identified, opposite in direction to NEMO in a 35.5-kb duplicated sequence tract. PCR-based detection of the NEMO deletion is diagnostic for IP disease. However, we present instances in which ex 4-10 DeltaNEMO pseudogene deletion occurs in unaffected parents of two females with clinically characteristic IP. These were missed by the currently standard PCR-based method, but can be easily discriminated by a new PCR-based test reported here that permits unambiguous molecular diagnosis and proper familial genetic counseling for IP. 相似文献
3.
A 19‐year‐old female and her mother visited our department with a history of unusual reticular brown‐black patches on their trunks and limbs since infancy. Besides the obviously fulsome hyperpigmentation, the daughter also showed other unusual clinical manifestations such as generalized hypohidrosis, especially on the hyperpigmented patches, cicatricial alopecia, a cataract on her right eye, abnormal teeth and a right dysplastic breast. The mother had a median diastema between her maxillary central incisors, hypoplasia of the enamel, hypohidrosis and hyperpigmented patches on her left thoracic region. Analysis of the NEMO (NF‐κB essential modulator) gene in the patient and her mother revealed a deletion of exons 4–10. Their EDA and EDAR genes were normal. 相似文献
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5.
J. Schaller Sibylle Schaller 《Journal of the European Academy of Dermatology and Venereology》1996,6(1):47-49
The case report of a 2 week-old Turkish girl suffering from incontinently pigmenti (IP) with atypical disseminated papules and vesicles as a rare clinical manifestation at the onset is presented.
The diagnosis result from the histological examination with eosinophilic spongiosis, the peripheral blood eosinophilia and the development of typical striated lesions is the course of the disease. 相似文献
The diagnosis result from the histological examination with eosinophilic spongiosis, the peripheral blood eosinophilia and the development of typical striated lesions is the course of the disease. 相似文献
6.
目的:检测中国汉族色素失禁症一家系NEMO基因突变。方法:收集该家系内2例患者及1名正常人外周静脉血和临床资料,提取家系及100名健康对照全基因组DNA,针对NEMO基因外显子区及其侧翼序列设计引物,PCR产物扩增后进行Sanger测序,同时MLPA检测该基因是否存在大片段缺失。结果:该家系2例患者均检测出NEMO基因第5号外显子存在一移码突变c.723_c.724insCAGG,但该家系正常人和100名健康对照个体均未检出此突变。家系内三位被检测者均不存在NEMO基因大片段缺失。结论:该色素失禁症家系内NEMO基因c.723_c.724insCAGG突变可能是其发病的原因。 相似文献
7.
We describe a 57-year-old woman with a history of nail dystrophy since the age of 11 years. Multiple nail clippings were negative and multiple empirical treatments for presumed onychomycosis were unsuccessful. The patient has a daughter with classical incontinentia pigmenti. Molecular genetic analysis was positive for the NEMO gene deletion on the X chromosome, confirming the diagnosis of incontinentia pigmenti. Nail dystrophy was the sole feature of the disease in our patient. 相似文献
8.
色素失禁症在新生儿期的表现及随访研究 总被引:3,自引:3,他引:3
目的 探讨色素失禁症在新生儿期的临床表现、诊断及预后。方法 对 1998年 1月~ 2 0 0 3年 12月在我科收治的6例患儿的临床表现、诊断和预后进行分析 ,并进行相关的文献复习。结果 1)其中 3例为少见的男性患者 ;2 ) 4例出生时、1例生后 6d出现皮疹 ;4例有特征性三期皮疹 :红斑水疱期、疣状增生期和色素沉着期 ,但各期之间有重叠现象 ,1例主要表现为红斑水疱期和色素沉着期 ;3 ) 4例伴神经系统受损 (2例智力、运动发育落后、2例为一过性改变 ) ;2例出现眼受损 (1例左眼视神经萎缩、失明 ,1例双眼视网膜严重病变 ) ;4)特异性检查 :5例皮肤病理符合色素失禁症 ,1例行基因分析 ,但未发现Xq2 8的核因子 κB要素调素基因突变。结论 色素失禁症是一种少见的X连锁的显性的累及多系统疾病 ,病初易误诊 ,其诊断除根据典型临床表现外 ,皮肤病理和X染色体的基因分析是确诊方法。早期发现和干预神经系统和眼部损害是改善预后的关键。 相似文献
9.
10.
Ji Young Song Chan Ho Na Byoung Soo Chung Kyu Cherl Choi Bong Seok Shin 《ANNALS OF DERMATOLOGY》2008,20(3):134-137
Incontinentia pigmenti (Bloch-Sulzberger''s disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter''s syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant. 相似文献