全文获取类型
收费全文 | 126篇 |
免费 | 49篇 |
出版年
2021年 | 3篇 |
2019年 | 2篇 |
2017年 | 1篇 |
2016年 | 7篇 |
2015年 | 6篇 |
2014年 | 13篇 |
2013年 | 4篇 |
2012年 | 8篇 |
2011年 | 6篇 |
2010年 | 5篇 |
2009年 | 4篇 |
2008年 | 3篇 |
2007年 | 12篇 |
2006年 | 6篇 |
2005年 | 7篇 |
2004年 | 3篇 |
2003年 | 9篇 |
2002年 | 7篇 |
2001年 | 5篇 |
2000年 | 4篇 |
1999年 | 8篇 |
1998年 | 7篇 |
1997年 | 2篇 |
1996年 | 5篇 |
1995年 | 5篇 |
1994年 | 2篇 |
1993年 | 2篇 |
1992年 | 3篇 |
1991年 | 7篇 |
1990年 | 6篇 |
1989年 | 1篇 |
1988年 | 1篇 |
1987年 | 1篇 |
1986年 | 1篇 |
1985年 | 2篇 |
1984年 | 3篇 |
1983年 | 1篇 |
1982年 | 2篇 |
1981年 | 1篇 |
排序方式: 共有175条查询结果,搜索用时 15 毫秒
1.
R. Ray D. Rincon-Limas R.A. Wright S.N. Davis J.R. Lupski P.I. Patel 《Nucleic acids research》1990,18(16):4958
2.
V Guzzetta B Franco B J Trask H Zhang O Saucedo-Cardenas R Montes de Oca-Luna F Greenberg A C Chinault J R Lupski P I Patel 《Genomics》1992,13(3):551-559
Somatic cell hybrids retaining the deleted chromosome 17 from 15 unrelated Smith-Magenis syndrome (SMS) [del(17)(p11.2p11.2)] patients were obtained by fusion of patient lymphoblasts with thymidine kinase-deficient rodent cell lines. Seventeen sequence-tagged sites (STSs) were developed from anonymous markers and cloned genes mapping to the short arm of chromosome 17. The STSs were used to determine the deletion status of these loci in these and four previously described human chromosome 17-retaining hybrids. Ten STSs were used to identify 28 yeast artificial chromosomes (YACs) from the St. Louis human genomic YAC library. Four of the 17 STSs identified simple repeat polymorphisms. The order and location of deletion breakpoints were confirmed and refined, and the regional assignment of several probes and cloned genes were determined. The cytogenetic band locations and relative order of six markers on 17p were established by fluorescence in situ hybridization mapping to metaphase chromosomes. The latter data confirmed and supplemented the somatic cell hybrid results. Most of the hybrids derived from [del(17)(p11.2p11.2)] patients demonstrated a similar pattern of deletion for the marker loci and were deleted for D17S446, D17S258, D17S29, D17S71, and D17S445. However, one of them demonstrated a unique pattern of deletion. This patient is deleted for several markers known to recognize a large DNA duplication associated with Charcot-Marie-Tooth (CMT) disease type 1A. These data suggest that the proximal junction of the CMT1A duplication is close to the distal breakpoint in [del(17)(p-11.2p11.2)] patients. 相似文献
3.
Brunella Franco Li-Wen Lai David Patterson David H. Ledbetter Barbara J. Trask Ger van den Engh Susan Iannaccone Shannon Frances Pragna I. Patel James R. Lupski 《Human genetics》1991,87(3):269-277
Summary We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23–1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23–q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000–16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21–1q25. 相似文献
4.
Promotion, termination, and anti-termination in the rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli K-12 总被引:18,自引:0,他引:18
Summary The regulatory regions for the rpsU-dnaG-rpoD macromolecular synthesis operon have been fused to a structural gene whose product is readily assayed (the Cmr structural gene coding for chloramphenicol acetyl transferase, CAT). The promoters (P1, P2, P3, Pa, Pb, Phs) for the macromolecular synthesis operon have different strengths as shown by their relative abilities to drive expression of the CAT gene. Promoter occlusion by P1 can be demonstrated within this operon. Regions 5kb upstream have a profound effect on operon gene expression. There is a thermoinducible promoter located within the dnaG structural gene. One of the macromolecular synthesis operon promoters is under lexA control. Although the operon structure allows coordinate expression of rpsU, dnaG and rpoD these additional features suggest that expression of individual genes can be independently regulated in response to altered growth conditions.Abbreviations Apr
ampicillin resistance
- CAT
chloramphenicol acetyl transferase
- Cmr
chloramphenicol resistance
- kb
kilobase pair
- orf
open reading frame
- P
promoter
- T
terminator
- Tcr
tetracycline resistance 相似文献
5.
6.
Benjamin B. Roa Frank Greenberg Preethi Gunaratne Christine M. Sauer Mark S. Lubinsky Chahira Kozma Jeanne M. Meck R. Ellen Magenis Lisa G. Shaffer J. R. Lupski 《Human genetics》1996,97(5):642-649
Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly
associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin
gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities,
absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction
velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication
status of the PMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these
four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A
phenotype of reduced NCV is specifically associated with PMP22 gene duplication, thus providing further support for the PMP22 gene dosage mechanism for CMT1A.
Received: 3 May 1995 / Revised: 1 August 1995 相似文献
7.
8.
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). 总被引:18,自引:10,他引:8
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)
F Greenberg V Guzzetta R Montes de Oca-Luna R E Magenis A C Smith S F Richter I Kondo W B Dobyns P I Patel J R Lupski 《American journal of human genetics》1991,49(6):1207-1218
We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral neuropathy, since markers showing close linkage to one form of Charcot-Marie-Tooth disease (CMT1A) map to this chromosomal region. The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice. Fifty-five percent of the patients showed clinical signs (e.g., decreased or absent deep tendon reflexes, pes planus or pes cavus, decreased sensitivity to pain, and decreased leg muscle mass) suggestive of peripheral neuropathy. However, unlike patients with CMT1A, these patients demonstrated normal nerve conduction velocities. Self-destructive behaviors, primarily onychotillomania and polyembolokoilamania, were observed in 67% of the patients, and significant symptoms of sleep disturbance were observed in 62%. The absence of REM sleep was demonstrated by polysomnography in two patients. Southern analysis indicated that most patients were deleted for five 17p11.2 markers--FG1 (D17S446), 1516 (D17S258), pYNM67-R5 (D17S29), pA10-41 (D17S71), and pS6.1-HB2 (D17S445)--thus defining a region which appears to be critical to SMS. The deletion was determined to be of paternal origin in nine patients and of maternal origin in six patients. The apparent random parental origin of deletion documented in 15 patients suggests that genomic imprinting does not play a role in the expression of the SMS clinical phenotype. Our findings suggest that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies. 相似文献
9.
Christine R. Beck Claudia M.B. Carvalho Zeynep C. Akdemir Fritz J. Sedlazeck Xiaofei Song Qingchang Meng Jianhong Hu Harsha Doddapaneni Zechen Chong Edward S. Chen Philip C. Thornton Pengfei Liu Bo Yuan Marjorie Withers Shalini N. Jhangiani Divya Kalra Kimberly Walker Adam C. English James R. Lupski 《Cell》2019,176(6):1310-1324.e10
10.
Boerkoel CF Takashima H Stankiewicz P Garcia CA Leber SM Rhee-Morris L Lupski JR 《American journal of human genetics》2001,68(2):325-333
The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(-/-) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations-two with compound heterozygous nonsense and frameshift mutations, and one with a homozygous frameshift mutation. We mapped PRX to 19q13.13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997). 相似文献