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排序方式: 共有197条查询结果,搜索用时 656 毫秒
81.
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. 总被引:11,自引:3,他引:8
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H G Brunner M R Nelen P van Zandvoort N G Abeling A H van Gennip E C Wolters M A Kuiper H H Ropers B A van Oost 《American journal of human genetics》1993,52(6):1032-1039
We have identified a large Dutch kindred with a new form of X-linked nondysmorphic mild mental retardation. All affected males in this family show very characteristic abnormal behavior, in particular aggressive and sometimes violent behavior. Other types of impulsive behavior include arson, attempted rape, and exhibitionism. Attempted suicide has been reported in a single case. The locus for this disorder could be assigned to the Xp11-21 interval between DXS7 and DXS77 by linkage analysis using markers spanning the X chromosome. A maximal multipoint lod score of 3.69 was obtained at the monoamine oxidase type A (MAOA) locus in Xp11.23-11.4. Results of 24-h urine analysis in three affected males indicated a marked disturbance of monoamine metabolism. These data are compatible with a primary defect in the structural gene for MAOA and/or monoamine oxidase type B (MAOB). Normal platelet MAOB activity suggests that the unusual behavior pattern in this family may be caused by isolated MAOA deficiency. 相似文献
82.
Human and murine catalases can be separated electrophoretically as single bands of different mobility. In man-mouse somatic cell hybrids, however, detection of human catalase is precluded by the complexity of banding patterns resulting from interference of a catalase-modifying enzyme activity. We have identified human catalase in hybrid clones by Laurel electrophoresis employing a specific anti-human catalase antibody, and by exploiting heat stability differences. Catalase co-segregates with LDH A and is probably located on the short arm of chromosome 11. 相似文献
83.
Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families.
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H H Ropers P Burmeister W v Petrykowski F Schindera 《American journal of human genetics》1975,27(4):547-553
Two apparently unrelated families with a history of leukodystrophy associated with adrenal insufficiency are presented. Only about 20 cases of this syndrome have been reported until now. It was first described by Siemerling and Creutzfeldt; therefore we propose the designation Siemerling-Creutzfeldt disease. Our pedigrees include 15 additional cases and prove that this disease is inherited as an X-linked or as an autosomal dominant trait with male sex limitation. Within these families, the interindividual variability of clinical signs is remarkable. Patients can survive into the fifth decade, and one has reproduced. Attempts to identify heterozygotes on the basis of endocrinologic investigations were unsuccessful. 相似文献
84.
H. Hameister G. Wolff C. H. Lauritzen W. O. Lehmann A. Hauser H. H. Ropers 《Human genetics》1979,46(2):199-207
Summary We report on three independent cases with a partial deficiency of placental steroid sulfatase (E.C.3.1.6.2). Upon routine pregnancy monitoring these patients were detected on the basis of low estriol excretion and failing induction of labor. In all three cases a male was delivered and subsequently the diagnosis of partial deficiency of placental steroid sulfatase was confirmed enzymatically in placenta homogenates. In one case, fibroblast cultures were established from skin explants of mother and son. In fibroblasts of the child, as in placental tissue, the activity of steroid sulfatase was only 34% of normal. Similar values were obtained for arylsulfatase C, though this enzyme is clearly separable from steroid sulfatase by electrophoresis. In cells of the mother, enzyme activities were unremarkable. 相似文献
85.
86.
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family 总被引:8,自引:0,他引:8
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Laumonnier F Bonnet-Brilhault F Gomot M Blanc R David A Moizard MP Raynaud M Ronce N Lemonnier E Calvas P Laudier B Chelly J Fryns JP Ropers HH Hamel BC Andres C Barthélémy C Moraine C Briault S 《American journal of human genetics》2004,74(3):552-557
A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins. 相似文献
87.
88.
Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM) 总被引:10,自引:5,他引:5
H. G. Brunner R. G. Korneluk M. Coerwinkel-Driessen A. MacKenzie H. Smeets H. M. M. Lambermon B. A. van Oost B. Wieringa H. -H. Ropers 《Human genetics》1989,81(4):308-310
Summary We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy
(DM). In a panel of 65 myotonic dystrophy families from Canada and the Netherlands, a maximum lod score (Zmax) of 22.8 at a recombination frequency (Θ) of 0.03 was obtained. Tight linkage was also demonstrated for CKMM and the gene
for apolipoprotein C2 (ApoC2). This establishes CKMM as a useful marker for myotonic dystrophy. 相似文献
89.
90.
Peter M. van Zandvoort Cor A. van Bennekom Hans-Hilger Ropers Bernard A. van Oost 《Human genetics》1990,84(5):489-490
Summary The DNA diagnosis of X-linked recessive ichthyosis vulgaris (incidence: approx. 1 in 5000 males) can be complicated by the absence of restriction fragment length polymorphisms (RFLPs) in the STS (steroid sulphatase) gene. An RFLP sequence in NcoI-digested genomic DNA is reported, which it is hoped may prove helpful in diagnosis. 相似文献