全文获取类型
收费全文 | 94篇 |
免费 | 23篇 |
出版年
2021年 | 1篇 |
2019年 | 1篇 |
2016年 | 2篇 |
2015年 | 2篇 |
2014年 | 6篇 |
2013年 | 4篇 |
2012年 | 2篇 |
2011年 | 7篇 |
2010年 | 4篇 |
2009年 | 4篇 |
2008年 | 3篇 |
2007年 | 5篇 |
2005年 | 5篇 |
2004年 | 4篇 |
2003年 | 1篇 |
2002年 | 5篇 |
2001年 | 6篇 |
2000年 | 4篇 |
1999年 | 3篇 |
1998年 | 3篇 |
1997年 | 1篇 |
1996年 | 4篇 |
1995年 | 4篇 |
1994年 | 1篇 |
1993年 | 4篇 |
1992年 | 1篇 |
1991年 | 4篇 |
1990年 | 4篇 |
1989年 | 6篇 |
1988年 | 4篇 |
1987年 | 3篇 |
1986年 | 1篇 |
1985年 | 2篇 |
1982年 | 1篇 |
1980年 | 1篇 |
1978年 | 1篇 |
1977年 | 1篇 |
1975年 | 1篇 |
1972年 | 1篇 |
排序方式: 共有117条查询结果,搜索用时 31 毫秒
1.
P J McAlpine N Van Cong C Boucheix A J Pakstis R C Doute T B Shows 《Cytogenetics and cell genetics》1987,46(1-4):29-101
2.
T Miki I Nishisho H Tateishi Y Chen J R Kidd J Wu D Pravtcheva A J Pakstis S Takai F H Ruddle 《Genomics》1988,3(1):78-81
The locus recognized by the probe OS-3 is assigned to chromosome 10 both by Southern blot analysis of a panel of somatic cell hybrid DNAs and by genetic linkage to markers already assigned to chromosome 10. In Caucasians this probe recognizes a three-allele TaqI RFLP as well as two-allele BanII and RsaI RFLPs which are both in strong linkage disequilibrium with each other and with the TaqI RFLP. The D10S20 locus defined by this probe maps 5.5 cM distal to D10S4 on the long arm of chromosome 10. Because this human clone hybridizes with mouse genomic DNA, it will be useful in comparative mapping studies. 相似文献
3.
Close linkage of MEN2A with RBP3 locus in Japanese kindreds 总被引:7,自引:0,他引:7
Masayuki Yamamoto Shin-ichiro Takai Tetsuro Miki Kazuyoshi Motomura Makoto Okazaki Isamu Nishisho Hideo Tateishi Akira Miyauchi Tasuku Honjo A. J. Pakstis Takesada Mori 《Human genetics》1989,81(3):287-288
Summary The gene responsible for multiple endocrine neoplasia type 2A (MEN2A) has recently been assigned to the pericentromeric region of chromsome 10 in European Caucasian kindreds by linkage analysis using a DNA marker, interstitial retinol-binding protein 3 (RBP3). We have found tight linkage between the MEN2A and RBP3 loci in Japanese MEN2A kindreds. The maximum lod score is 5.19 at a recombination fraction of 0.00. This result suggests that mutation of a certain gene close to RBP3 is responsible for MEN2A irrespective of ethnic backgrounds. 相似文献
4.
5.
Excess amino acid polymorphism in mitochondrial DNA: contrasts among genes from Drosophila, mice, and humans 总被引:13,自引:3,他引:10
Recent studies of mitochondrial DNA (mtDNA) variation in mammals and
Drosophila have shown an excess of amino acid variation within species
(replacement polymorphism) relative to the number of silent and replacement
differences fixed between species. To examine further this pattern of
nonneutral mtDNA evolution, we present sequence data for the ND3 and ND5
genes from 59 lines of Drosophila melanogaster and 29 lines of D. simulans.
Of interest are the frequency spectra of silent and replacement
polymorphisms, and potential variation among genes and taxa in the
departures from neutral expectations. The Drosophila ND3 and ND5 data show
no significant excess of replacement polymorphism using the
McDonald-Kreitman test. These data are in contrast to significant
departures from neutrality for the ND3 gene in mammals and other genes in
Drosophila mtDNA (cytochrome b and ATPase 6). Pooled across genes, however,
both Drosophila and human mtDNA show very significant excesses of amino
acid polymorphism. Silent polymorphisms at ND5 show a significantly higher
variance in frequency than replacement polymorphisms, and the latter show a
significant skew toward low frequencies (Tajima's D = -1.954). These
patterns are interpreted in light of the nearly neutral theory where mildly
deleterious amino acid haplotypes are observed as ephemeral variants within
species but do not contribute to divergence. The patterns of polymorphism
and divergence at charge-altering amino acid sites are presented for the
Drosophila ND5 gene to examine the evolution of functionally distinct
mutations. Excess charge-altering polymorphism is observed at the carboxyl
terminal and excess charge-altering divergence is detected at the amino
terminal. While the mildly deleterious model fits as a net effect in the
evolution of nonrecombining mitochondrial genomes, these data suggest that
opposing evolutionary pressures may act on different regions of
mitochondrial genes and genomes.
相似文献
6.
Abnormalities in monoamine metabolism, including serotonin metabolism, have been implicated in the pathophysiology of affective disorders, schizophrenia, suicide, and other psychiatric disorders. Serotonin transporter protein (SERT) allows neurons to retrieve serotonin that has been released into a synapse. SERT is a site of action for several drugs with CMS effects, including both therapeutic agents (e.g., antidepressants) and drugs of abuse (e.g., cocaine). This gene had previously been physically mapped to chromosome 17. We used a PCR product corresponding to the 3 untranslated region of the gene as a probe to identify restriction fragment length polymorphism (RFLP), which we then used to establish that the SLC6A4, genetic locus for SERT, is near 17q12 and probably flanked by D17S58 and D17S73 (a location consistent with observed crossovers). These data should be useful for linkage studies of neuropsychiatric disorders. (Joyce et al. 1993). Neurotransmitter reuptake sites (including also the norepinephrine transporter protein and the dopamine transporter protein) are logical candidate genes for susceptibility to psychiatric illness. We have previously (Gelernter et al. 1993) mapped the norepinephrine transporter protein to chromosome 16q21. We describe here linkage mapping of the serotonin transporter protein gene (gene symbol SLC6A4, for solute carrier family 6 (neurotransporter, serotonin), member 4), which was cloned in 1991 (Blakely et al. 1991; Hoffman et al. 1991) and previously assigned to chromosome 17, most likely to band 17q11.2, by in situ hybridization (Ramamoorthy et al. 1993). Our linkage results confirm the initial mapping of SLC6A4 and place it in the linkage map of proximal 17q. 相似文献
7.
The genetic defect in multiple endocrine neoplasia type 2A maps next to the centromere of chromosome 10 总被引:12,自引:6,他引:6
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Jingshi Wu Nancy L. Carson Shirley Myers Andrew J. Pakstis Judith R. Kidd Carmela M. Castiglione Linda Anderson L. Suzanne Hoyle Myron Genel Maurice Verdy Charles E. Jackson Nancy E. Simpson Kenneth K. Kidd 《American journal of human genetics》1990,46(3):624-630
Multiple endocrine neoplasia type 2A (MEN2A) is a rare cancer syndrome that is inherited in an apparently autosomal dominant fashion. Previous linkage studies had assigned the MEN2A locus to chromosome 10 in the pericentromeric region. We recently have described several new easily scorable RFLPs for the chromosome 10-specific alpha satellite DNA (the D10Z1) locus that is known, on the basis of previous in situ hybridization experiments, to lie at the centromere. We report here tight linkage between MEN2A and D10Z1, as demonstrated by a maximum lod score of 12.02 at the recombination frequency of zero (1-lod-unit support interval 0-4 cM), indicating that the genetic defect in MEN2A lies in the immediate vicinity of the centromere. By means of a set of ordered polymorphic DNA markers from the pericentromeric region, multipoint as well as pairwise linkage analyses place the MEN2A locus at the middle of a small region (approximately 11 cM) bracketing the centromere with FNRB (at 10p11.2) and RBP3 (at 10q11.2) on either side, providing further support for the centromeric location of the MEN2A locus. Marked sex difference in recombination frequencies exists in this pericentromeric region: significantly (P less than .01) more female than male crossovers were observed across all of the adjacent intervals D10S24-FNRB, FNRB-D10Z1, and D10Z1-RBP3. However, a sex difference was not seen in the 7-cM interval from RBP3 to D10S5, suggesting that large variation in the sex difference in recombination can occur over small chromosomal regions.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
8.
9.
10.