コーパス検索結果 (1語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 from the same family and was integrated with linkage analysis.
2 We genotyped the mice and performed linkage analysis.
3 ased model to perform variant and gene-based linkage analysis.
4 SCA-affected Italian family by whole-genome linkage analysis.
5 us on chromosome 2p11.1-q12.2 by genome-wide linkage analysis.
6 memory performance were used for genome-wide linkage analysis.
7 ty in this family using exome sequencing and linkage analysis.
8 ring contigs into pseudomolecules by genetic linkage analysis.
9 ding programs and has been mainly studied by linkage analysis.
10 pG ODN defect, we have performed genome-wide linkage analysis.
11 a causal RBM20 mutation without the need for linkage analysis.
12 ofiling, sulphate content determination, and linkage analysis.
13 on a 0.3-Mb region of mouse chromosome 4 by linkage analysis.
14 ly inherited traits otherwise intractable by linkage analysis.
15 portant data sources for mapping QTL through linkage analysis.
16 the rgt mutants were elucidated by glycosyl linkage analysis.
17 implicated in essential hypertension by gene linkage analysis.
18 onstrating its potential for oligosaccharide linkage analysis.
19 lized along with disease status in bivariate linkage analysis.
20 design, the authors conducted nonparametric linkage analysis.
21 nd reduced digests that facilitate disulfide linkage analysis.
22 BD) probabilities is the key in family-based linkage analysis.
23 were used to select high-quality markers for linkage analysis.
24 pported as the causal mutation by parametric linkage analysis.
25 A founder effect was excluded by linkage analysis.
26 f common CD-associated risk variants and for linkage analysis.
27 cleft lip and/or palate through genome-wide linkage analysis.
28 e 2H on chromosome 8q13-21.1 was excluded by linkage analysis.
29 e glycotope were based on mass spectrometry, linkage analysis, (1)H nuclear magnetic resonance spectr
30 whereby QTL were detected using a sire-based linkage analysis, a sparse SNP marker map and exploiting
31 riants were found at both loci identified by linkage analysis: a homozygous stop codon in PI3-kinase
32 onal statistical genetics approaches such as linkage analysis and association studies have limited po
35 candidate mutations, which were narrowed by linkage analysis and confirmed by Sanger sequencing and
36 with calf weakness, we identified by genetic linkage analysis and exome sequencing a heterozygous mis
45 Pakistani families, we performed genome-wide linkage analysis and fine mapping and identified linkage
48 soriasis, for which application of classical linkage analysis and genome-wide association investigati
49 guineous family with five affected siblings, linkage analysis and genomic sequencing revealed the gen
56 mined the individual genotypes by SNPlex for linkage analysis and parental transmission disequilibriu
57 esis-independent genetic studies of CRS (ie, linkage analysis and pooling-based genome-wide associati
63 ci associated with 49 DCPs were confirmed by linkage analysis and tests of genetically modified paras
64 an unbiased genome-wide approach using both linkage analysis and variant filtering across the exome
65 We have demonstrated that a combination of linkage analysis and whole exome sequencing can be used
69 TE-affected families by performing SNP-array linkage analysis and whole-exome sequencing and identifi
73 ions, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c.434
81 sted to be involved in schizophrenia through linkage analysis, and duplications at 1p36.33 and CGNL1.
84 included incorporation of radiolabeled Glc, linkage analysis, and imaging of cellulose microfibril f
86 cluding monosaccharide analysis, methylation linkage analysis, and mass spectrometry of native LM spe
94 LINK, a novel application that performs MCMC linkage analysis by spreading the computational burden b
95 240 mutation was determined by a genome-wide linkage analysis by use of simple sequence length polymo
96 ton/deuterium exchanges, the composition and linkage analysis can be determined in a single step.
97 traditional gene mapping techniques, such as linkage analysis, can help identify the genetic basis of
98 been identified using four main approaches: linkage analysis, candidate gene sequencing and most rec
100 We utilised a genome-wide marker set for linkage analysis combined with cytological mapping of cr
104 Here we report a genetic segregation and linkage analysis conducted on F2 progeny of a reciprocal
106 t Xyl levels decreased in uxs3 uxs5 uxs6 and linkage analysis confirmed that the xylan content in uxs
108 uage impairment as "affected." The secondary linkage analysis consisted of quantitative metrics of au
110 n the year following infection using genetic linkage analysis despite apparently increased risk behav
111 Using whole-exome sequencing, SNPchip-based linkage analysis, DNA microarray, and Sanger sequencing,
113 enzyme degradation, permethylation glycosyl linkage analysis, electron microscopy, and mutagenesis s
114 d not have been identified using traditional linkage analysis, emphasizing the need for exome sequenc
117 In a large Dutch FEVR family, we performed linkage analysis, exome sequencing, and segregation anal
119 tic abnormality in this family, we performed linkage analysis followed by whole-exome capture and nex
121 AF4, carbohydrate composition and glycosidic linkage analysis for the dominating population was perfo
141 s of the remaining cases of DC, we undertook linkage analysis in 20 families and identified a common
143 Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by ca
146 rformed genome-wide expression profiling and linkage analysis in a large F2(DA x PVG) intercross, whi
147 erformed a genome-wide association study and linkage analysis in a sample of 3456 young healthy indiv
162 xample for the concept that population-based linkage analysis is a useful strategy to identify comple
163 reased use of whole-genome sequencing (WGS), linkage analysis is again emerging as an important and p
165 udies in dogs have primarily employed either linkage analysis, leveraging the typically large family
175 y new CAD genetic loci through a large-scale linkage analysis of 24 large and multigenerational famil
176 oma in some but not all cases in the family, linkage analysis of 31 families subsequently identified
178 any compelling associations, but parametric linkage analysis of 460 families (1062 affected individu
186 Study and performed a model-free genome-wide linkage analysis of fibromyalgia with 341 microsatellite
188 n Leishmania, opening the way toward genetic linkage analysis of important traits and providing stron
190 mmunosorbence-based screens and carbohydrate linkage analysis of polysaccharides in Golgi membranes,
191 ral phenotyping of the families also enabled linkage analysis of quantitative measures, including nor
193 e controlled by a large number of genes, and linkage analysis of several traits implicates a 'common
194 antitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hy
195 is, to our knowledge, the first genome-wide linkage analysis of the extended Utah high-risk CMM pedi
199 crostructure was determined using oligogenic linkage analysis of this large multigenerational pedigre
200 assical univariate and bivariate genome-wide linkage analysis of TNF production using the data from b
201 We identified the disease locus through linkage analysis on 15q21.2, and exome sequencing reveal
203 ld dataset, performing parametric multipoint linkage analysis on a highly consanguineous pedigree wit
204 K cell functional maturation, we performed a linkage analysis on F2 (B6.Rag1(-/-) x NOD.Rag1(-/-) int
205 a variant-level and a gene-level parametric linkage analysis on nine PNTM families (16 affected and
207 three different inbred strains and performed linkage analysis on the DPOAE data obtained from the sec
208 ring cleavage ions are potentially useful in linkage analysis, one of the most critical steps of glyc
209 me a widely used epidemiological method like linkage analysis or genome-wide association analysis.
210 ool capable of modeling genetic association, linkage analysis, polygenic effects, shared environment,
214 ng has allowed researchers to move away from linkage analysis (relying on large pedigrees and/or mult
217 Here, in the four-generation family UW-AP, linkage analysis revealed four regions that provided the
223 Model) and SOLAR-MGA (Sequential Oligogenic Linkage Analysis Routines -Major Gene Analysis) have sim
224 ODS AND We used SOLAR (Sequential Oligogenic Linkage Analysis Routines) to evaluate heritability of A
227 as implemented in the Sequential Oligogenic Linkage Analysis Routines, was used to estimate heritabi
229 Unfortunately, methods to perform multipoint linkage analysis scale poorly with either the number of
234 s of the TbGnTII null mutants by methylation linkage analysis suggests that, in wild-type parasites,
235 of diabetes complications relied on familial linkage analysis suited to strong-effect loci, candidate
236 omplementary approaches, including classical linkage analysis, targeted next-generation sequencing, a
239 Here, we describe an alternative approach to linkage analysis that makes use of a nonreversible deute
242 and assess a statistical design that deploys linkage analysis to estimate and test the pattern and ex
244 xome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variant
247 ker panel, a subset of which may be used for linkage analysis to reduce computational burden and to l
250 We have employed cysteine labelling and linkage analysis to the full length of Bak in mitochondr
253 To identify candidate loci, we performed linkage analysis using 5 p.G206A carrier families (n = 5
258 omosome 6 were then tested in the gene-level linkage analysis, using the collapsed haplotype pattern
270 selecting markers in the genome scanning of linkage analysis was replaced by estimating polygenic va
272 iants shared in all affected individuals and linkage analysis was used to further filter shared varia
273 us on chromosome 3, originally identified by linkage analysis, was in fact due to three closely linke
277 by analyzing families with recurrent SPTB in linkage analysis, we identified a linkage peak close to
279 Using a combination of exome sequencing and linkage analysis, we investigated an English family with
283 tural amino acid substitution and a standard linkage analysis, we show that a His97' NH(epsilon2)...O
284 sis and single-nucleotide polymorphism-based linkage analysis were investigated in a 4-generation fam
287 sease-associated mutations were sought using linkage analysis, whole-exome sequencing, and copy numbe
288 Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted r
293 ither through follow-up interviews or record linkage analysis with hospital discharge and PD outpatie
295 n of the pedigree was performed, followed by linkage analysis with the redefined disease statuses, an
298 ed all 49 heritable phenotypes using genetic linkage analysis, with special emphasis on phenotypes ju
299 disease gene to be on chromosome 19p13, and linkage analysis yielded a combined multipoint log(10) o