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排序方式: 共有36条查询结果,搜索用时 15 毫秒
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Genes and translocations involved in POF 总被引:14,自引:0,他引:14
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Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development 总被引:6,自引:0,他引:6
Uda M Ottolenghi C Crisponi L Garcia JE Deiana M Kimber W Forabosco A Cao A Schlessinger D Pilia G 《Human molecular genetics》2004,13(11):1171-1181
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES). Here we report that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent. Furthermore, in mice as in humans, sterility is confined to females. Features of Foxl2 null animals point toward a new mechanism of POF, with all major somatic cell lineages failing to develop around growing oocytes from the time of primordial follicle formation. Foxl2 disruption thus provides a model for histogenesis and reproductive competence of the ovary. 相似文献
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We report two patients, one with sternal cleft, haemangiomas, supraumbilical midline raphe and the other with a sternal cleft, haemangiomas, coarctation of the aorta with a right aortic arch. 相似文献
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Manuela Oppo Ivana Persico Stefano Onano Stefania Olla Valentina Pes Chiara Perria Gianmauro Cuccuru Rossano Atzeni Gigliola Serra Francesco Cucca Stefano Sotgiu Laura Crisponi 《American journal of medical genetics. Part A》2019,179(4):634-638
We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17‐year‐old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein–Taybi syndrome. The patient showed a marked overweight from early infancy on and had cortical heterotopias. Recently, 22 individuals have been reported with missense mutations in the last part of exon 30 and the beginning of exon 31 of CREBBP, showing this new phenotype. This additional case further delineates the genotype–phenotype correlations within the molecular and phenotypic spectrum of variants in CREBBP and EP300. 相似文献
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G Pilia M Uda D Macis F Frau L Crisponi F Balli C Barbera C Colombo T Frediani R Gatti R Iorio M G Marazzi M Marcellini S Musumeci G Nebbia P Vajro G Ruffa L Zancan A Cao S DeVirgilis 《Human mutation》1999,14(5):394-400
Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in AGS. In this study, mutation analysis of the JAG1 gene performed on 20 Italian AGS patients led to the identification of 15 different JAG1 mutations, including a large deletion of the 20p12 region, six frameshift, three nonsense, three splice-site, and two missense mutations. The two novel missense mutations were clustered in the 5' region, while the remaining mutations were scattered throughout the gene. The spectrum of mutations in Italian patients was similar to that previously reported. We also studied in detail a complex splice site mutation, 3332dupl8bp, which was shown to lead to an abnormal JAG1 mRNA, resulting in a premature stop codon. With the exception of the missense mutations, the majority of the JAG1 mutations are therefore likely to produce truncated proteins. Since the phenotype of the patient with a complete deletion of the JAG1 gene is indistinguishable from that of patients with intragenic mutations, our study further supports the hypothesis that haploinsufficiency is the most common mechanism involved in AGS pathogenesis. Furthermore, our data confirmed the absence of a correlation between the genotype of the JAG1 gene and the AGS phenotype. 相似文献
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Janina Trauth Thomas Discher Moritz Fritzenwanker Can Imirzalioglu Tobias Arnold Dagmar Steiner Elvira Richter Laura Crisponi Bodo Grimbacher Susanne Herold 《Emerging infectious diseases》2022,28(7):1506
Mycobacterium genavense infection, a rare nontuberculous mycobacteria infection, occurs in heavily immunocompromised patients (i.e., those with advanced HIV disease, genetic disorders, or acquired immunologic disorders and those undergoing immunosuppressive therapy). We report a case of disseminated M. genavense infection preceding Hodgkin lymphoma in a patient without obvious risk factors for this infection. 相似文献
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INTRODUCTION: Rhabdoid tumour of the kidney is a new independent entity. Before it was considered a variant of Wilms tumor of the kidney. Now we have enough parametres to define the rhabdoid tumor: immunohistochemistry positive by the vimentin, special histological features and behaviour. CASE: We report a very aggressive case of rhabdoid tumor found in a two week old infant. RESULTS: We studied aspects of histology and histochemistry. We found a positivity for vimentin and many cells in apoptosis. DISCUSSION: The mild positivity for vimentin and the high number of cells in apoptosis suggest a relationship between apoptosis and behaviour. 相似文献
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