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1.
Partial duplication of 11q is related to several malformations like growth retardation, intellectual disability, hypoplasia of corpus callosum, short nose, palate defects, cardiac, urinary tract abnormalities and neural tube defects. We have studied the clinical and molecular characteristics of a patient with severe intellectual disabilities, dysmorphic features, congenital inguinal hernia and congenital cerebral malformation which is referred to as cytogenetic exploration. We have used FISH and array CGH analysis for a better understanding of the double chromosomic aberration involving a 7p microdeletion along with a partial duplication of 11q due to adjacent segregation of a paternal reciprocal translocation t(7;11)(p22;q21) revealed after banding analysis. The patient's karyotype formula was: 46,XY,der(7)t(7;11)(p22;q21)pat. FISH study confirmed these rearrangement and array CGH technique showed precisely the loss of at least 140 Kb on chromosome7p22.3pter and 33.4 Mb on chromosome11q22.1q25. Dysmorphic features, severe intellectual disability and brain malformations could result from the 11q22.1q25 trisomy. Our study provides an additional case for better understanding and delineating the partial duplication 11q.  相似文献   
2.
The advent of whole-genome sequencing of bacteria and advances in bioinformatics have revolutionized the study of bacterial pathogenesis, enabling the targeting of possible vaccine candidates starting from genomic information. Nowadays, the availability of hundreds of bacterial genomes enables identification of the genetic differences across several genomes from the same species. The unexpected degree of intra-species diversity suggests that a single genome sequence is not entirely representative and does not offer a complete picture of the genetic variability of a species. The practical consequence is that, in many cases, a universal vaccine is possible only by including a combination of antigens and this combination must take into account the pathogen population structure.  相似文献   
3.
An ultraviolet-radiation-resistant, Gram-positive, orange-pigmented, thermophilic and strictly aerobic cocci was isolated from Saharan water hot spring in Tunisia. The newly isolated bacterium, designated HAN-23T, was identified based on polyphasic taxonomy including genotypic, phenotypic and chemotaxonomic characterization. Phylogenetic analysis based on 16S rRNA gene sequences placed this strain within Deinococcus genus. However, strain HAN-23T is different from recognized species of the genus Deinococcus, showing less than 94.0% similarity values to its closest relatives. The predominant cellular fatty acids determined by gas chromatography were iso-C15:0, iso-C17:0 and iso C17:1 ω9c. The major respiratory quinone was MK-8. The DNA G + C content was 66.9 mol%. DNA–DNA hybridization measurements revealed low DNA relatedness (6%) between the novel isolate and its closest neighbor, the type strain Deinococcus geothermalis DSM 11300. On the basis of the phenotypic, chemotaxonomic and phylogenetic data, strain HAN-23T represents a novel species of the genus Deinococcus, for which the name Deinococcus sahariens sp. nov. is proposed, the type strain being HAN-23T (=DSM 18496T; LMG 23756T).  相似文献   
4.
The cold shock protein family consists of the transfer of the foodborne pathogen Listeria monocytogenes from 37 to 4 and ?20?°C and was characterized by the sharp induction of a low molecular mass protein. This major cold shock protein ferritin-like protein (Flp) has an important role in regulation of various microbial physiological processes. Flp have a molecular mass of about 18?kDa, as observed on SDS?CPAGE. The purification procedure including ammonium sulfate fractionation was used. Monospecific polyclonal antibodies raised in rabbits against the purified new Flp immunostained a single 18-kDa Flp band in extracts from different cytoplasmic proteins blotted onto nitrocellulose. A 411-bp cDNA fragment that corresponds to an internal region of an flp gene was obtained by RT-PCR. Our result indicated a surexpression of major cold shock protein and an important increase in flp mRNA amount after a downshift temperature especially at ?20?°C.  相似文献   
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Microbiology in the post-genomic era   总被引:1,自引:0,他引:1  
Genomics has revolutionized every aspect of microbiology. Now, 13 years after the first bacterial genome was sequenced, it is important to pause and consider what has changed in microbiology research as a consequence of genomics. In this article, we review the evolving field of bacterial typing and the genomic technologies that enable comparative analysis of multiple genomes and the metagenomes of complex microbial environments, and address the implications of the genomic era for the future of microbiology.  相似文献   
7.
Bacterial community structure and diversity of Tunisian agricultural soil treated with different amounts of municipal solid waste compost (MSWC) and other fertilizers were studied using DGGE and ARISA fingerprinting methods. Sequence analysis of dominant DGGE bands revealed the presence of three major clusters, Cytophaga/Flexibacter/Bacteroides (CFB) group, Proteobacteria and Acidobacteria group. Using ARISA profiles, dominant populations were assigned to low and high GC Gram positive bacteria, Cyanobacteria, Spirochetes and Cytophagales. The two methods revealed the absence of significant bacterial community shifts related to the different MSWC applications. Moreover, indigenous bacterial population of the used loam-clayey soil was observed to limit proliferation and survival of Proteobacteria, initially dominant in MSWC and farmyard manure. Effectiveness of the two methods for soil bacterial community studying was shown. While DGGE was more accurate for bacterial identification, ARISA was more practical for handling and rapid estimation of dominant bacteria.  相似文献   
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Hydrodistillation of the dried leaves of eleven species of the genus Eucalyptus L 'Hér ., i.e., E. astringens Maiden , E. camaldulensis Dehnh ., E. diversifolia Bonpl ., E. falcata Turcz ., E. ficifolia F. Muell ., E. gomphocephala DC., E. lehmannii (Schauer ) Benth ., E. maculata Hook ., E. platypus Hook ., E. polyanthemos Schauer, and E. rudis Endl ., harvested from Korbous arboreta (region of Nabeul, northeast of Tunisia) in April 2006, afforded essential oils in yields varying from 0.1±0.1 to 3.8±0.1%, dependent on the species. E. astringens and E. ficifolia showed the highest and the lowest mean percentage of essential oil amongst all the species examined, respectively. Analysis by GC (RI) and GC/MS allowed the identification of 138 components, representing 74.0 to 99.1% of the total oil. The contents of the different samples varied according to the species. The main components were 1,8‐cineole, followed by trans‐pinocarveol ( 1 ), spathulenol ( 2 ), α‐pinene, p‐cymene, (E,E)‐farnesol, cryptone, globulol ( 3 ), β‐phellandrene, α‐terpineol, viridiflorol, and α‐eudesmol. The principal‐component and the hierarchical‐cluster analyses separated the eleven Eucalyptus leaf essential oils into seven groups, each constituting a chemotype.  相似文献   
10.
The essential‐oil composition of 60 individual trees of Juniperus phoenicea L. from four Tunisian populations in three different periods were investigated by GC and GC/MS analyses. 59 Compounds were identified in the oils, and a relatively high variation in their contents was found. All the oils were dominated by the terpenic hydrocarbon fraction, and the main component was α‐pinene (20.28–40.86%). The results of the oil compositions were processed by hierarchical clustering and principal component analysis (PCA) allowing establishing four groups of essential‐oils differentiated by one compound or more. Pattern of geographic variation in essential‐oil composition indicated that individuals from the continental site (Makthar) were clearly distinguished from those from littoral localities (Tabarka, Hawaria, and Rimel).  相似文献   
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