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 essive neurodegenerative disorder cause by a trinucleotide repeat expansion.
2 relationship between non-B conformations and trinucleotide repeat expansion.
3 ontribute to the OGG1-dependent mechanism of trinucleotide repeat expansion.
4 es of neurodegenerative diseases caused by a trinucleotide repeat expansion.
5 iptional silencing of the FMR1 gene due to a trinucleotide repeat expansion.
6  polymerase slippage previously proposed for trinucleotide repeat expansion.
7 r HD causative mutations, that is, IT15 gene trinucleotide-repeat expansion.
8  and control data for the detection of other trinucleotide repeat expansions.
9 erative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) with
10 on genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X
11 gically important repetitive DNAs, including trinucleotide repeat expansions and homologous gene fami
12 eases caused by a polyglutamine-encoding CAG trinucleotide repeat expansion, and is caused by an expa
13                                              Trinucleotide repeat expansions are the mutational cause
14  of the general class of human diseases with trinucleotide repeat expansion but also provide an avenu
15 n autosomal dominant fashion and caused by a trinucleotide repeat expansion (CAG) in the gene encodin
16                                          CAG trinucleotide repeat expansions cause several neurodegen
17 affecting DNA fragility from those affecting trinucleotide repeat expansion-contraction instability.
18 bility by creating transgenic flies carrying trinucleotide repeat expansions, deriving flies with SCA
19 ponents in RNA-based and polyQ-protein-based trinucleotide repeat expansion diseases.
20 the continued expansions seen in humans with trinucleotide repeat expansion diseases.
21 e reference genome, confirming that BSS is a trinucleotide repeat expansion disorder.
22 bnormal translation products observed in CAG trinucleotide repeat expansion disorders and add to the
23 orders, 12 case subjects with imprinting and trinucleotide repeat expansion disorders, as well as 106
24 CTG) repeats since they are also involved in trinucleotide repeat expansion disorders.
25 s into HD and other neurodegenerative and/or trinucleotide repeat expansion disorders.
26 may be an underappreciated phenomenon in CAG trinucleotide repeat expansion disorders.
27 FECD patient population with this (CTG.CAG)n trinucleotide repeat expansion exceeds that of the combi
28 X syndrome, and myotonic dystrophy-caused by trinucleotide repeat expansions have been identified.
29                                              Trinucleotide repeat expansions have been implicated in
30                                              Trinucleotide repeat expansions have been shown to cause
31  fatal neurodegenerative disease caused by a trinucleotide repeat expansion in exon 1 of the huntingt
32 ion has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A)
33 totemporal dementia (C9ALS/FTD), while a CGG trinucleotide repeat expansion in FMR1 leads to the neur
34 nant neurodegenerative disease caused by CAG trinucleotide repeat expansion in HTT, resulting in a mu
35                   This may have relevance to trinucleotide repeat expansion in human genetic disease.
36                                      The TGC trinucleotide repeat expansion in TCF4 is strongly assoc
37        Background: DM1 is caused by a (CTG)n trinucleotide repeat expansion in the 3'UTR of the DMPK
38  is one such condition, resulting from a CGG trinucleotide repeat expansion in the 5' leader sequence
39 a neurodegenerative disorder caused by a CGG trinucleotide repeat expansion in the 5' UTR of the Frag
40 tardation is caused, in most cases, by a CGG trinucleotide repeat expansion in the 5'-untranslated re
41 used by a polyglutamine (polyQ)-encoding CAG trinucleotide repeat expansion in the androgen receptor
42 Huntington's disease (HD) is caused by a CAG trinucleotide repeat expansion in the first exon of the
43 n almost all cases by homozygosity for a GAA trinucleotide repeat expansion in the frataxin gene.
44 rotein frataxin (FXN) due to an intronic GAA trinucleotide repeat expansion in the FXN gene.
45 etic, neurological disorder resulting from a trinucleotide repeat expansion in the gene that encodes
46 t neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HD gene.
47 a neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) g
48 e neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) g
49 rited neurodegenerative disorder caused by a trinucleotide repeat expansion in the huntingtin gene re
50 rative disorder caused by a pathological CAG trinucleotide repeat expansion in the large multi-exon g
51                          OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that r
52              This muscle disease is due to a trinucleotide repeat expansion in the polyA-binding prot
53 erative disorder that is the result of a CGG trinucleotide repeat expansion in the range of 55-200 in
54 t association is with an intronic (CTG.CAG)n trinucleotide repeat expansion in the TCF4 gene, which i
55                           The involvement of trinucleotide repeat expansions in a number of other dis
56   Patients with FRDA have point mutations or trinucleotide repeat expansions in both alleles of FRDA,
57 taxia (FRDA) is caused by point mutations or trinucleotide repeat expansions in both alleles of the g
58 ive neurodegenerative disorder caused by CAG trinucleotide repeat expansions in exon 1 of the HTT gen
59 ive neurodegenerative disorder caused by CAG trinucleotide repeat expansions in exon 1 of the hunting
60                                              Trinucleotide repeat expansions in FMR1 abolish FMRP exp
61                               Homozygous GAA trinucleotide repeat expansions in the first intron of F
62 set neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental
63 set neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental
64 tardation condition that usually is due to a trinucleotide-repeat expansion in the FMR1 gene.
65                                            A trinucleotide repeat expansion, inactivating the X-linke
66                                              Trinucleotide repeat expansion is increasingly recognize
67  the parent-of-origin effect associated with trinucleotide repeat expansion is not known.
68                                              Trinucleotide repeat expansion is the causative mutation
69           The loss of FMR1 expression due to trinucleotide repeat expansion leads to fragile X syndro
70                                              Trinucleotide repeat expansions may prove to cause patho
71 vailable parent-child pairs, suggesting that trinucleotide-repeat expansion may be the mutagenic mech
72 n found to be caused by heterozygosity for a trinucleotide repeat expansion mutation in the 3' untran
73  two Huntington disease patients showed that trinucleotide repeat expansion mutations were present be
74 onsistent features of the diseases caused by trinucleotide repeat expansion-neuropsychiatric symptoms
75 ng the germ-line cell compartments where the trinucleotide repeat expansions occur could help to eluc
76 duals, and no tested unaffecteds, have a CAG trinucleotide repeat expansion of 50 to 60 triplets, as
77                         A linear increase in trinucleotide repeat expansion of homologous CAG and GGC
78        Fragile X syndrome is caused by a CGG trinucleotide repeat expansion of the FMR1 gene.
79                    Disease alleles contain a trinucleotide repeat expansion of variable length, which
80 re few studies on the effect of pre-mutation trinucleotide repeat expansion on the male human brain u
81 l dominant, progressive disease, arises from trinucleotide repeat expansions present in the coding re
82 reich's ataxia were investigated for the GAA trinucleotide repeat expansion recently found within the
83      Huntington's disease is caused by a CAG trinucleotide repeat expansion that is translated into a
84 ne of 10 known diseases caused by a (CAG)(n) trinucleotide repeat expansion that is translated into a
85 hile the etiology of HD is known to be a CAG trinucleotide repeat expansion, the pathways by which th
86                                              Trinucleotide repeat expansion thus may be acting in the
87                          Thus, our data link trinucleotide-repeat expansion to a form of RNA-directed
88                                              Trinucleotide repeat expansions (TREs) are a recently de
89                                              Trinucleotide repeat expansion underlies at least 17 neu
90                            The mechanisms of trinucleotide repeat expansions, underlying more than a
91 t with the idea that MSH2 may participate in trinucleotide repeat expansion via its role in repair an
92      Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatell
93 trophy or Kennedy disease is caused by a CAG trinucleotide repeat expansion within the androgen recep