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1 us inversus totalis (SIT) to situs ambiguus (heterotaxy).
2 aterality defects such as situs inversus and heterotaxy.
3 incompletely penetrant syndrome of CHDs with heterotaxy.
4 romosome responsible for some cases of human heterotaxy.
5 in unrelated males with sporadic or familial heterotaxy.
6  have been implicated in the pathogenesis of heterotaxy.
7 studied in 38 cases of sporadic and familial heterotaxy.
8 ongenital heart diseases: cardiomyopathy and heterotaxy.
9 variants in FOXJ1 are an infrequent cause of heterotaxy.
10 ed SHF Hh signaling and caused AVSDs without heterotaxy.
11 etallopeptidase 21) in nine index cases with heterotaxy.
12 determinant for ciliogenesis and a cause for heterotaxy.
13 lity, and reveal a novel mechanism for human heterotaxy.
14 sociated with cardiac laterality defects and heterotaxy.
15 to include neonatal respiratory distress and heterotaxy.
16  in congenital LR axis patterning defects or heterotaxy.
17  Dnahc5 mutation may also be associated with heterotaxy.
18 ts, respectively, and 6.3% (21 patients) had heterotaxy.
19 5% with situs inversus totalis, and 40% with heterotaxy.
20 utation within this region in a patient with heterotaxy.
21 ude affected females and CHD not typical for heterotaxy.
22 y obligatory in "asymptomatic" patients with heterotaxy?
23 liopathy and does this explain some cases of heterotaxy?
24 ignificantly reduced in mapped patients with heterotaxy (2% [n = 1 of 46] vs 16% [n = 11 of 67]; P =
25 patients, including 61 patients with classic heterotaxy, 93 patients with heart defects characteristi
26             Mutations in ZIC3 cause X-linked heterotaxy, a disorder characterized by abnormal lateral
27  a patient with congenital heart disease and heterotaxy, a disorder of left-right patterning, we prev
28 ed cardiovascular malformations and X-linked heterotaxy, a disorder with abnormal left-right asymmetr
29 ling and caused AVSDs only concurrently with heterotaxy, a left/right axis abnormality.
30 bnormal left-right-axis formation results in heterotaxy, a multiple-malformation syndrome often chara
31  mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, s
32                         This mutation causes heterotaxy and complex congenital heart defects and was
33  1 had one fetus and one deceased child with heterotaxy and complex congenital heart malformations.
34  missense variants in VANGL2 associated with heterotaxy and congenital heart disease p.(Arg169His), n
35 gical nodal cilia are a significant cause of heterotaxy and congenital heart disease, and screening f
36 ger transcription factor ZIC3 cause X-linked heterotaxy and have also been identified in patients wit
37       Mutations in ZIC3 cause human X-linked heterotaxy and isolated cardiovascular malformations.
38 ative contribution of ZIC3 mutations to both heterotaxy and isolated CHD, we screened the coding regi
39 in node ultrastructure underlies its role in heterotaxy and laterality disorders.
40    Several genes have now been implicated in heterotaxy and related isolated congenital heart malform
41 riants in NODAL are present in patients with heterotaxy and/or isolated cardiovascular malformations
42 atients with heart defects characteristic of heterotaxy, and 11 patients with situs inversus totalis.
43      At least 6.3% of patients with PCD have heterotaxy, and most of those have cardiovascular abnorm
44 s a candidate disease gene in a patient with heterotaxy, and now demonstrate, in Xenopus tropicalis,
45 nd mechanisms underlying most cases of human heterotaxy are poorly understood.
46 he molecular mechanism(s) by which it causes heterotaxy are unknown.
47                   Randomly selected cases of heterotaxy are unlikely to be the result of mutations in
48  zinc finger transcription factor ZIC3 cause heterotaxy as well as isolated congenital heart disease.
49            Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left
50 l anomalies are frequent among patients with heterotaxy, but debate exists as to whether they are ben
51                  These studies indicate that heterotaxy can be caused by single gene mutations.
52                                 Both display heterotaxy, cardiopulmonary malformations and cystic kid
53 ality was 15% compared with 41% in the early heterotaxy cohort.
54    Abnormalities in cilial function underlie heterotaxy congenital heart disease (CHD) occurring in i
55 e have demonstrated that loss of Zic3 causes heterotaxy due to defects in establishment of left-right
56 ormal arrangement (situs solitus) results in heterotaxy, expressed either as randomization (situs amb
57 ambiguus and inversus, can appear among some heterotaxy families.
58             We assessed 43 CHD patients with heterotaxy for airway CD.
59                         Twelve patients with heterotaxy had cardiac and/or vascular abnormalities, an
60                                 Embryos with heterotaxy had complex structural heart defects that inc
61      Our studies show that CHD patients with heterotaxy have substantial risk for CD and increased re
62                          Laterality defects (heterotaxy) have been associated with connexin43 mutatio
63                                              Heterotaxy (Htx), a congenital heart disease resulting f
64                    In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, w
65                                     X-linked heterotaxy (HTX1) is a rare developmental disorder chara
66 d studied a large family in which a gene for heterotaxy, HTX1, was mapped to a 19-cM region in Xq24-q
67         Mutations in ZIC3 result in X-linked heterotaxy in humans, a syndrome consisting of left-righ
68 the phenotypic concordance between AVSDs and heterotaxy in mice and humans with cilia gene mutations.
69          Genes currently implicated in human heterotaxy include ZIC3, LEFTYA, CRYPTIC, and ACVR2B.
70 ed by BA exhibit various laterality defects (heterotaxy) including splenic abnormalities and complex
71 eening of a cohort of patients with sporadic heterotaxy indicates that ZIC3 mutations account for app
72 fish embryos resulted in a high incidence of heterotaxy, indicating a conserved role in laterality sp
73  prevalence of congenital heart disease with heterotaxy is 200-fold higher in PCD than in the general
74                                              Heterotaxy is a complex set of birth defects in which th
75                                              Heterotaxy is a disorder of left-right body patterning,
76                                              Heterotaxy is an abnormal arrangement of thoraco-abdomin
77 ral history of unoperated cardiac lesions in heterotaxy is known to be poor.
78           Active research on the etiology of heterotaxy is leading to a reformulation of the likely e
79   Five novel ZIC3 mutations in three classic heterotaxy kindreds and two sporadic CHD cases were iden
80           The surprisingly high incidence of heterotaxy led us to evaluate the diagnosis of PCD.
81 esis also affect ciliogenesis, and can cause heterotaxy-like phenotypes in zebrafish.
82 hondrial function as an underlying cause for heterotaxy-linked CHD and provide a mechanism for unexpl
83                                              Heterotaxy may be caused by teratogenic exposures, espec
84                                     Familial heterotaxy occurs with autosomal dominant, recessive and
85              Loss of function of ZIC3 causes heterotaxy (OMIM #306955), a disorder characterized by o
86            Variant analysis of patients with heterotaxy or heterotaxy-related CHD indicates that path
87 cases (n = 269) affected with either classic heterotaxy or looping CVM revealed four different missen
88 , most of the embryos that failed to develop heterotaxy or situs inversus in response to misregulated
89                      A variable incidence of heterotaxy, or irregular organ situs, also has been repo
90                                          One heterotaxy patient with CD had the PCD causing DNAI1 fou
91              Early survival has improved for heterotaxy patients after the Fontan operation; however,
92 of mutations in mapped NLS or NES domains in heterotaxy patients demonstrates the functional importan
93 f prescreening and prophylactically treating heterotaxy patients for CD.
94                            Exome analysis of heterotaxy patients revealed an increased burden of rare
95                                              Heterotaxy patients with CD were enriched for mutations
96   Sequencing of all 14 known PCD genes in 13 heterotaxy patients with CD, 12 without CD, 10 PCD disea
97 on of candidate genes that may be mutated in heterotaxy patients, and epidemiologic studies are helpi
98 roups failed to find connexin43 mutations in heterotaxy patients, suggesting genetic heterogeneity.
99 te to increased respiratory complications in heterotaxy patients.
100 ncoding damaging rare variants identified in heterotaxy patients.
101 ced mitochondrial DNA content in biopsies of heterotaxy patients.
102        Zic3 null mice recapitulate the human heterotaxy phenotype but also have early gastrulation de
103 iant analysis of patients with heterotaxy or heterotaxy-related CHD indicates that pathogenic variant
104                                              Heterotaxy results from a failure to establish normal le
105                                              Heterotaxy results from failure to establish normal left
106 ents with congenital heart disease (CHD) and heterotaxy show high postsurgical morbidity/mortality, w
107 CD), and there are a few reports of PCD with heterotaxy (situs ambiguus), such as cardiovascular anom
108 f Fallot (n=127), pulmonary atresia (n=177), heterotaxy syndrome (n=38), and other (n=213).
109 isplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome and means ambiguous location of the
110 oing complex biventricular repair, including heterotaxy syndrome and non-L-malposed great arteries.
111 sure, transpulmonary gradient or presence of heterotaxy syndrome between patients with positive contr
112                 A total of 142 patients with heterotaxy syndrome had a modified Fontan operation.
113 xtro-transposition of the great arteries and heterotaxy syndrome in 3 distinct relatives was found.
114 g)-superfamily member, ZIC3, causes X-linked heterotaxy syndrome in humans but has not been investiga
115              Patients with a Holmes heart or heterotaxy syndrome or who were lost to follow-up (n = 2
116                                              Heterotaxy syndrome was present in 31% (n = 46 of 149),
117 heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac
118  modified Fontan operation for patients with heterotaxy syndrome, assess variables traditionally know
119 raft from a pediatric donor with polysplenic heterotaxy syndrome, including intestinal malrotation, m
120 cle can share a common genetic etiology with heterotaxy syndrome.
121 e second class, which appears to model human heterotaxy syndrome.
122 enital heart disease (CHD) and in those with heterotaxy syndrome.
123 of middle lobe fissure on CTscans suggesting heterotaxy syndrome.
124 ns in isolated AVSD and AVSD associated with heterotaxy syndrome.
125 summarize recent research on the etiology of heterotaxy syndromes.
126 ing 187 individuals with laterality defects (heterotaxy) that were associated with a congenital heart
127 ent of proper left-right asymmetry and cause heterotaxy, the incorrect placement of visceral organs.
128 didate genes of congenital heart disease and heterotaxy, we identify KCNH6, a member of the ether-a-g
129                                Patients with heterotaxy were identified from the Mayo Clinic Fontan d
130  of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveli
131                    Seven of 12 patients with heterotaxy who were genotyped had mutations in DNAI1 or
132 lic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
133 efects, including situs inversus totalis and heterotaxy with randomized situs and left and right isom

 
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