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排序方式: 共有112条查询结果,搜索用时 15 毫秒
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Viguié F Aboura A Bouscary D Guesnu M Baumelou E Dreyfus F Casadevall N Tachdjian G 《Cancer Genetics and Cytogenetics》2002,138(1):80-84
The bone marrow karyotypes of three patients with acute myelocytic leukemia (AML) or myelodysplastic syndrome (MDS) were studied at diagnosis and revealed, multiple copies of the same chromosomal anomaly, considered as psu idic(21)(q22) associated with other rearrangement(s). The karyotype of a fourth patient with MDS in transformation showed one copy of a dicentric marker presumably derived from a similar psu idic(21) by (tandem?) interstitial amplification of part of its structure, resembling a "homogeneous staining region", and described as der(21)psu idic(21)(q22)hsr(21)(q22). This rearrangement, previously described in isolated cases only, might be considered as recurrent in AML/MDS and associated with an unfavorable prognosis. It is most probably a secondary change, because it was never observed as sole abnormality and the main association, as for trisomy 21, was with del(5q). In the four cases, the number of partial supernumerary segmental 21pter-->21q22 copies, ranged from 2 to 10. The AML1 gene did not appear to be the common target of this amplification because this locus had been lost by the psu idic(21) in one patient 相似文献
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Tachdjian G Aboura A Benkhalifa M Creveaux I Foix-Hélias L Gadisseux JF Boespflug-Tanguy O Mohammed M Labrune P 《American journal of medical genetics. Part A》2004,131(3):273-280
Genotype-phenotype correlation in women with an abnormal phenotype associated with a duplication of the long arm of the X chromosome remains unclear. We report on prenatal diagnosis and follow-up of a girl with an Xq duplication and dysmorphic features. The abnormal phenotype included growth retardation, hypotonia, and nystagmus. In order to improve the resolution of the cytogenetic analysis, we used both conventional and array-based comparative genomic hybridization to perform a global molecular cytogenetic analysis of the genome. These molecular cytogenetic analyses showed a direct duplication Xq21.1 --> q25 without other chromosomal abnormalities. This duplication was originating from the paternal X chromosome. Moreover, a skewed X-inactivation pattern was observed leading to a partial functional disomy of the chromosomal region Xq21.1q25. This report and review of the literature suggest that functional disomy for chromosome X could explain the abnormal phenotype. In prenatal diagnosis, this can have implication for patient management and genetic counseling. 相似文献
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Nicolas Chatron Véronique Haddad Joris Andrieux Julie Désir Odile Boute Anne Dieux Clarisse Baumann Séverine Drunat Marion Gérard Céline Bonnet Bruno Leheup Marianne Till Massimiliano Rossi Elisabeth Flori Yves Alembik Helen Stewart Joanna McParland Laura Bernardini Pia Castelluccio Laura Roos Zeynep Tümer Kerry Fagan Anna Hackett Nicole Bain Arie van Haeringen Claudia Ruivenkamp Brigitte Benzacken Damien Sanlaville Patrick Edery Azzedine Aboura Caroline Schluth‐Bolard 《American journal of medical genetics. Part A》2015,167(5):1008-1017
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Ouarda Taleb-Belkadi Hadjer Chaib Lakhdar Zemour Azzedine Fatah Belkacem Chafi 《Gynecological endocrinology》2016,32(12):982-985
Objective: To evaluate the effect of perimenopause and postmenopause on lipid profile, inflammation, and oxidative stress in women.Methods: This cross-sectional study included 117 women (47?±?6 years) classified as perimenopausal (n?=?47), postmenopausal (n?=?40), or non-menopausal (n?=?30). In serum, we analyzed lipid profile, tumor necrosis factor-alpha (TNF-α), interleukin-1α (IL-1α), and C-reactive protein (CRP). Pro-oxidant status was assessed by thiobarbituric acid reactive substances (TBARS) and protein carbonyls. Antioxidant defense was performed by analysis of superoxide dismutase (SOD) and catalase activities.Results: Compared to non-menopausal women, triacylglycerols (TG) were similar, total cholesterol and LDL-C were higher in perimenopausal and postmenopausal women, while HDL-C concentrations were decreased. TNF-α and IL-1α were higher in postmenopausal women, while CRP concentrations were elevated in both peri-and postmenopausal women (p?0.05). TBARS and carbonyls were increased in peri- and postmenopausal women (p?0.05). SOD and CAT activities were decreased in postmenopausal women (p?0.05) and elevated in perimenopausal women.Conclusion: Menopausal transition and postmenopause were associated with dyslipidemia, inflammation, and unbalanced oxidative status exposing women to cardiovascular risk. 相似文献
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Birouk N Azzedine H Dubourg O Muriel MP Benomar A Hamadouche T Maisonobe T Ouazzani R Brice A Yahyaoui M Chkili T Le Guern E 《Archives of neurology》2003,60(4):598-604
BACKGROUND: The first locus for demyelinating autosomal recessive Charcot-Marie-Tooth (ARCMT) disease was identified in 8q13, where mutations in GDAP1 have been found. Mutations in the same gene have been detected in families with axonal ARCMT disease. OBJECTIVE: To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with ARCMT disease associated with the S194X mutation in the GDAP1 gene. METHODS: Four patients from a consanguineous Moroccan family were examined clinically and electrophysiologically. In one patient, a morphometric and ultrastructural study of a peroneal nerve biopsy sample was performed. Mutation in the coding region of the GDAP1 gene was identified by direct sequencing. RESULTS: Neuropathy was evident early in childhood, walking was delayed in one patient, and onset of symptoms occurred before 18 months in the others. The phenotype was severe: foot deformities and disabilities involving the hands and feet developed toward the end of the first decade, followed by involvement of proximal muscles in the lower limbs, leading to loss of autonomy. Electrophysiologic findings were consistent with an axonal form of CMT disease: motor nerve conduction velocities, recordable in one patient only, were greater than 40 m/sec. Sensory nerve action potentials were either abolished or substantially reduced in amplitude. The morphologic data supported the diagnosis of axonal neuropathy, showing a marked reduction in myelinated fibers and signs of axonal regeneration, including frequent pseudo-onion bulb formations. The 4 patients in this family were homozygous for the S194X mutation in the GDAP1 gene. CONCLUSION: Electrophysiologic and pathological findings support the hypothesis of an axonal disorder in this ARCMT family with the S194X mutation in the GDAP1 gene. 相似文献
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Petit FM Gajdos V Parisot F Capel L Aboura A Lachaux A Tachdjian G Poüs C Labrune P 《European journal of human genetics : EJHG》2005,13(3):278-282
Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a phenylalanine residue deletion inherited only from the father carrying this deletion at the heterozygous state. Cytogenetic analyses showed no deletion of the chromosomal 2q37 region. Microsatellite analysis of the child and his parents was consistent with paternal isodisomy for chromosome 2 in the child. This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases. 相似文献
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Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo-fetal development anomalies 总被引:2,自引:0,他引:2
Tabet AC Aboura A Dauge MC Audibert F Coulomb A Batallan A Couturier-Turpin MH Feldmann G Tachdjian G 《Prenatal diagnosis》2001,21(8):613-618
Cytogenetic studies of spontaneous abortions or intrauterine fetal death depend on conventional tissue culturing and karyotyping. This technique has limitations such as culture failure and selective growth of maternal cells. Fluorescent in situ hybridization (FISH) using specific probes permits diagnosis of aneuploidies but is limited to one or a few chromosomal regions. Comparative genomic hybridization (CGH) provides an overview of chromosomal gains and losses in a single hybridization directly from DNA samples. In a prospective study, we analyzed by CGH trophoblast cells from 21 fetuses in cases of spontaneous abortions, intrauterine fetal death or polymalformed syndrome. Six numerical chromosomal abnormalities including one trisomy 7, one trisomy 10, three trisomies 18, one trisomy 21 and one monosomy X have been correctly identified by CGH. One structural abnormality of the long arm of chromosome 1 has been characterized by CGH. One triploidy and two balanced pericentromeric inversions of chromosome 9 have not been identified by CGH. Sexual chromosomal constitutions were concordant by both classical cytogenetic technique and CGH. Contribution of trophoblast analysis by CGH in embryo-fetal development anomalies is discussed. 相似文献