戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

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 ilibrium test (TDT) to one that accounts for locus heterogeneity.
2 s or exceeds 50%, suggesting the presence of locus heterogeneity.
3  is especially so in the presence of disease locus heterogeneity.
4 genetic component complicated by substantial locus heterogeneity.
5 on syndromic phenotypes characterized by low locus heterogeneity.
6 ena such as gene-environment interaction and locus heterogeneity.
7 subject to multiple modes of inheritance and locus heterogeneity.
8  NOGGIN locus, providing genetic evidence of locus heterogeneity.
9 icant LOD scores, indicating the presence of locus heterogeneity.
10 stically significant linkage under models of locus heterogeneity.
11 strated linkage to chromosome 1p13, with 78% locus heterogeneity.
12 demonstrate that there is probably extensive locus heterogeneity.
13 f related candidate genes in the presence of locus heterogeneity.
14  platelet dense granules, displays extensive locus heterogeneity.
15 nd by uncertainties concerning the extent of locus heterogeneity.
16 BBS) is an autosomal recessive disorder with locus heterogeneity.
17  these four families demonstrate allelic and locus heterogeneity.
18 lose to the results for the true model under locus heterogeneity.
19 into subgroups relative to suspected genetic locus heterogeneity.
20 ng other congenital disorders featuring high locus heterogeneity.
21 additive traits involving phenocopies and/or locus heterogeneity.
22 romosome 4p, and it produced no evidence for locus heterogeneity.
23 e evidence for other loci for disorders with locus heterogeneity.
24 se disorders, some of which display genetic (locus) heterogeneity.
25  factors such as case-control misassignment, locus heterogeneity, allele frequencies, and linkage dis
26  may result from a range of causes including locus heterogeneity, allelic heterogeneity, genetic and
27 e associated with only one form of clefting, locus heterogeneity also appears to be involved.
28               In the present study, we model locus heterogeneity among affected sib pairs with prosta
29  the TDT statistic (TDT-HET) that allows for locus heterogeneity among coded trios.
30        These results imply that there may be locus heterogeneity among human kindreds with selective
31 npathogenic variants, as well as allelic and locus heterogeneity and can readily be applied outside o
32 13-0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture.
33  this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DY
34                         While the tremendous locus heterogeneity and functional pleiotropy associated
35 roach is robust to incomplete penetrance and locus heterogeneity and is applicable to a wide variety
36 ata identify a syndromic subset of PTCs with locus heterogeneity and telomere lengthening as a conver
37 t individuals with this disorder show marked locus heterogeneity, and we identify mutations in five s
38                     Coloboma shows extensive locus heterogeneity associated with causative mutations
39                             This expands the locus heterogeneity associated with epileptic encephalop
40                                              Locus heterogeneity at the HLA region suggests a distinc
41 t (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future
42                                              Locus heterogeneity characterizes a variety of skeletal
43        In addition, HPS most likely displays locus heterogeneity, consistent with the existence of se
44 at impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discov
45                We conclude that considerable locus heterogeneity exists even within populations, whic
46 ients, and we present evidence that suggests locus heterogeneity for HPS.
47                    In addition, evidence for locus heterogeneity has been provided by the identificat
48            Our data suggest the existence of locus heterogeneity in Aicardi-Goutieres syndrome and hi
49                                 The observed locus heterogeneity in autosomal dominant keloid disease
50 oriasis and implies that there may be within-locus heterogeneity in chromosomal regions involved in b
51 one on the development of methods to address locus heterogeneity in genetic association analysis.
52                         These data establish locus heterogeneity in multiple-synostosis syndrome and
53                          The results suggest locus heterogeneity in predisposition to UM.
54     Our results provide further evidence for locus heterogeneity in type 1 VWD.
55                                              Locus heterogeneity is one of the most documented phenom
56                                         High locus heterogeneity is potentially advantageous to decip
57 ilies demonstrate a PRDX3 variant or whether locus heterogeneity may exist for PPPCD.
58 ication despite the combined complexities of locus heterogeneity, mixed models of transmission and fr
59  key parameters (background variation rates, locus heterogeneity, mode of inheritance, penetrance) on
60 udied, a two-locus threshold model and a two-locus heterogeneity model.
61  6 two-locus additive models; and (3) 16 two-locus heterogeneity models (admixture alpha = 1.0,.7,.5,
62  Although Hermansky-Pudlak syndrome exhibits locus heterogeneity, most patients have mutations in the
63 owever, our understanding of the allelic and locus heterogeneity of ARS-related disease is incomplete
64                                   Due to the locus heterogeneity of human mutations predicted to resu
65                   The intercross data reveal locus heterogeneity of the En1 modifiers, with more than
66 enomewide search is being conducted and that locus heterogeneity of the trait is likely.
67 ial congenital hydrocephalus and expands the locus heterogeneity of this condition.
68 autosomal dominant transmission demonstrates locus heterogeneity of this trait, with a multilocus lod
69  with polymorphic markers, suggesting either locus heterogeneity or a polygenic origin for Tourette s
70 ly, most analyses either fail to account for locus heterogeneity or attempt to account for it only by
71             Rejection of linkage may reflect locus heterogeneity or the confounding effects of sporad
72  4.20 under locus homogeneity (P=.000006) or locus heterogeneity (P=.000011).
73 class of disorders that are characterized by locus heterogeneity, particularly when studying disorder
74 f families with a common origin for reducing locus heterogeneity problems associated with studying co
75 uggest that these findings are likely due to locus heterogeneity rather than random statistical error
76                      To address the cause of locus heterogeneity resulting in an indistinguishable he
77                                   Increasing locus heterogeneity results in rapid increases in sample
78             Simulation studies, assuming 50% locus heterogeneity, showed that these kindreds had 85%
79 The reasons for the difficulty may encompass locus heterogeneity, small effects and phenocopies, amon
80 ical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic
81           Moreover, by resolving allelic and locus heterogeneity, structural variants improve the pow
82                  For diseases with extensive locus heterogeneity, such as autism spectrum disorders (
83                              The lack of any locus heterogeneity suggests that the major predisposing
84 ers at a time produced definite evidence for locus heterogeneity: the maximum multipoint LOD score un
85                                 TSC exhibits locus heterogeneity: the TSC2 gene is located at 16p13.3
86            For many diseases, due to extreme locus heterogeneity this probability can be small.
87  The results strongly supported linkage with locus heterogeneity to a segment of 7q33-34, yielding a
88         There was clear evidence for genetic locus heterogeneity upon examination of ten additional f
89             Significant evidence for genetic locus heterogeneity was observed, with similar estimates
90                      In an attempt to reduce locus heterogeneity, we performed a genomewide linkage s
91 nds with one mutant allele, and, looking for locus heterogeneity, we sequenced FZD4 and NDP in the se
92   Overall lod scores under the assumption of locus heterogeneity were between 1.20 and 1.40 at zero r
93 to the lack of consistency across studies is locus heterogeneity, which can weaken or even eliminate
94 proach but that dominant disorders with high locus heterogeneity will require large sample sizes.
95                        There is clinical and locus heterogeneity with about two thirds of families li
96                   Linkage studies have shown locus heterogeneity with one TSC gene mapped to chromoso
97           There was significant evidence for locus heterogeneity, with an estimate of 34% of the fami
98                                 AGS exhibits locus heterogeneity, with mutations identified in genes
99 egion of interest on 21q, thus demonstrating locus heterogeneity within the Bethlem myopathy classifi
100                                 Considerable locus heterogeneity within this population was suggested