戻る
「早戻しボタン」を押すと検索画面に戻ります。

今後説明を表示しない

[OK]

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 ous for a POMP mutation, thus establishing a digenic and autosomal dominant inheritance pattern of PR
2 f rds and rom1 in patients with RDS-mediated digenic and dominant RP.
3 equilibrium was contributed by the composite digenic and quadrigenic disequilibrium whose values and
4                                          The digenic cases all had the same RDS mutation (the missens
5 l, individual clinical information excluding digenic cases, and redundant articles.
6  CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS.
7           We further substantiate a proposed digenic diallelic inheritance of ciliopathies by the ide
8               Furthermore, we found possible digenic disease by detecting one individual who carried
9 ilibria need to be combined into a composite digenic disequilibrium and further define a composite qu
10 utation in ZMPSTE24 and hypothesized to be a digenic disorder (Navarro et al, Lamin A and ZMPSTE24 (F
11                                          The digenic (double homozygous) rga/gal-3 mutants are able t
12  main QTL explained 66% of the variance, and digenic epistasis accounted for 16% of the variance.
13 r main QTL explained 62% of the variance and digenic epistasis accounted for only 5% of the variance.
14 e effects were important and that dominance, digenic epistasis and maternal effects were not signific
15 or 64% of the total phenotypic variance, and digenic epistasis explained 11.8% of the variance.
16 for 29% of the total phenotypic variance and digenic epistasis explained 39% of the variance.
17 tween populations that revealed additive and digenic epistasis for the same trait.
18 ses segregated for the high oleic trait in a digenic fashion.
19                          However, an unusual digenic form of RP has been described.
20 notype with compound heterozygosity in 7 and digenic heterozygosity in 14.
21                                     Compound/digenic heterozygosity was identified in 16% of ARVC-cau
22 desmosomal genes mutations; second variants (digenic heterozygosity) were identified in 16 of 38 subj
23 zygosity) or in a second complementary gene (digenic heterozygosity).
24 ncludes reduced penetrance with compound and digenic heterozygosity.
25                  We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each
26 n loci can interact to cause hearing loss in digenic heterozygotes of both species.
27  Cytoarchitectural defects in the cochlea of digenic heterozygotes, including degeneration of the ste
28                                              Digenic homozygous mutations in RNF216 and OTUD4, which
29 fies a human IFNAR1 mutation and describes a digenic immunodeficiency specific to type I and type II
30            A new study identifies a role for digenic inheritance and an epigenetic modifier in facios
31                              We hypothesized digenic inheritance and looked for additional molecular
32                   Because modifier genes and digenic inheritance are not always distinguishable, we a
33 al pheochromocytoma syndrome consistent with digenic inheritance identified through a combination of
34                                 Furthermore, digenic inheritance may well contribute to the clinical
35 humans, we also have obtained evidence for a digenic inheritance of a USH1 phenotype in three unrelat
36 o include in this review several examples of digenic inheritance of hearing loss that have been repor
37                 Here, we report evidence for digenic inheritance of HH.
38 hat progressive piebaldism might result from digenic inheritance, of the KIT(V620A) mutation that cau
39                                  Looking for digenic inheritance, we sequenced the genes encoding the
40 r of patients, suggesting the possibility of digenic inheritance.
41 ts that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription f
42 ildren is unusual and might be the result of digenic interaction between FCD1 and an independent late
43  were substantially more frequent (>6x) than digenic interactions.
44                    This suggests a potential digenic mode of inheritance of FHL as a result of a syne
45 ons in both HSD11B1 and H6PD in a triallelic digenic model of inheritance, resulting in low 11beta-HS
46                      IGT4 represents a novel digenic model of insulin resistance coupled with an insu
47                     Here, we present a novel digenic model of type 2 diabetes in mice heterozygous fo
48 s and the previous finding that PMCAs act as digenic modulators in Ca(2+)-linked pathologies, the PMC
49                               We generated a digenic mouse model of human idiopathic epilepsy by comb
50                     Moreover, platelets from digenic mutation carriers contained less soluble guanyly
51                                      De novo digenic mutations of telomere-associated proteins and in
52 ion (p.R1141X) in the ABCC6 gene, suggesting digenic nature of their skin findings.
53  Dhcr14 mice were intercrossed to test for a digenic phenotype.
54     This work demonstrates that monogenic or digenic POLR3A and POLR3C deficiencies confer increased
55                        One family (0.5%) has digenic RDS-ROM1 mutations.
56  locus RXC3 in conjunction with RXC4 confers digenic resistance to X. c. campestris.
57      Based on the recessive phenotype of the digenic rga/gal-3 mutant, the wild-type gene product of
58 ns in the RDS gene as a cause of dominant or digenic RP and mutations in the ROM1 gene as a cause of
59 Four other index patients were found to have digenic RP as a result of the combination of heterozygou
60 oreceptor degeneration in the mouse model of digenic RP was faster than in the wild-type and monogeni
61 M1 mutations, when present together, lead to digenic RP.
62 and mutations in the ROM1 gene as a cause of digenic RP.
63               Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous
64 ci for pheochromocytoma and adds a recessive digenic trait to the increasingly broad genetic heteroge

WebLSDに未収録の専門用語(用法)は "新規対訳" から投稿できます。