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Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis
Springer Science and Business Media LLC - Tập 86 - Trang 404-407 - 1991
We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS30...... hiện toàn bộ
Small metacentric marker chromosomes, particularly isochromosomes, in cancer
Springer Science and Business Media LLC - Tập 79 - Trang 96-102 - 1988
At least two types of small metacentrics, which are isochromosomes for 12p and either 4p or 5p, respectively, are significantly associated with certain types of cancer and their formation may represent important stages in the development of these tumours. The specificity of the i(12p) for testicular cancer is now well established (it may also be present, however, in dysgerminomas and mixed Mülleri...... hiện toàn bộ
Clear and independent associations of several HLA-DRB1 alleles with differential antibody responses to hepatitis B vaccination in youth
Springer Science and Business Media LLC - Tập 126 - Trang 685-696 - 2009
To confirm and refine associations of human leukocyte antigen (HLA) genotypes with variable antibody (Ab) responses to hepatitis B vaccination, we have analyzed 255 HIV-1 seropositive (HIV+) youth and 80 HIV-1 seronegatives (HIV−) enrolled into prospective studies. In univariate analyses that focused on HLA-DRB1, -DQA1, and -DQB1 alleles and haplotypes, the DRB1*03 allele group and DRB1*0701 were ...... hiện toàn bộ
A haplotype at chromosome Xq27.2 confers susceptibility to prostate cancer
Springer Science and Business Media LLC - Tập 123 - Trang 379-386 - 2008
We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The study population was subdivided into a set of training subjects to explore genet...... hiện toàn bộ
Geographic distribution and origin of CFTR mutations in Germany
Springer Science and Business Media LLC - Tập 97 - Trang 727-731 - 1996
The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R...... hiện toàn bộ
Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene
Springer Science and Business Media LLC - Tập 89 - Trang 607-611 - 1992
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. A minimum recombinant analysis using D13S22, ESD, RB1, D13S31, D13S55, D13S26, D13S39, and D13S12, all localized at 13q14-q22, has been carried out in 20WD families of Northwest-European origin. No inconsistencies have been observed with respect to locus order or location of the WD locus (WND) compared with previous linka...... hiện toàn bộ
Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome
Springer Science and Business Media LLC - Tập 114 - Trang 173-181 - 2003
The human Y chromosome has been predicted to harbour a locus termed GCY, affecting height in males. GCY has been positioned by deletion mapping to the pericentromeric region on the long arm of the Y chromosome. As the relevant gene has not been identified yet, we have carried out exon amplification and isolated nine different exon trap clones within the critical region. Gene prediction programs ha...... hiện toàn bộ
The hnRNP family: insights into their role in health and disease
Springer Science and Business Media LLC - Tập 135 - Trang 851-867 - 2016
Heterogeneous nuclear ribonucleoproteins (hnRNPs) represent a large family of RNA-binding proteins (RBPs) that contribute to multiple aspects of nucleic acid metabolism including alternative splicing, mRNA stabilization, and transcriptional and translational regulation. Many hnRNPs share general features, but differ in domain composition and functional properties. This review will discuss the curr...... hiện toàn bộ
Cytological and cytogenetical studies on brain tumors
Springer Science and Business Media LLC - Tập 12 - Trang 42-49 - 1971
In the cytogenetical investigation of 70 meningiomas 5 tumors with a Ph1-like chromosome were found. In 3 tumors with 46 chromosomes this chromosome was identified to be indeed a deleted G chromosome. In the other 2 tumors the observed fragment could only be supposed to derive from a G chromosome, for further chromosomes were missing. The similarity of these findings to those in the chronic myelog...... hiện toàn bộ
Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy
Springer Science and Business Media LLC - Tập 70 - Trang 11-17 - 1985
The effect of maternal age on the incidence of chromosomally normal spontaneous abortion and different categories of chromosome abnormality among all clinically recognized human pregnancies was evaluated. The results provide no evidence for a significant association of age with sex chromosome monosomy or polyploidy, but clearly demonstrate an effect of age on the frequency of trisomy and chromosom...... hiện toàn bộ
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