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1  approximately 70% of patients known to have primary ciliary dyskinesia.
2 -related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia.
3 creases this ratio, mimicking the ciliopathy primary ciliary dyskinesia.
4 al leucine-rich repeat that in humans causes primary ciliary dyskinesia.
5 e, 9+2 cilia and offers a new model of human primary ciliary dyskinesia.
6 n of cystic fibrosis, and ciliary defects of primary ciliary dyskinesia.
7 02), with the exception being a subject with primary ciliary dyskinesia.
8 ey disease (PKD), Bardet-Biedl syndrome, and primary ciliary dyskinesia.
9 a; it was found to be greater in both CF and primary ciliary dyskinesia.
10       Control group 3 included patients with primary ciliary dyskinesia.
11 eased airways, such as in cystic fibrosis or primary ciliary dyskinesia.
12 other family, twins both displayed ccTGA and primary ciliary dyskinesia.
13  within the axonemal superstructure leads to primary ciliary dyskinesia.
14 body and abnormalities in motile cilia cause primary ciliary dyskinesia.
15 ellular fluids, and their dysfunction causes primary ciliary dyskinesia.
16 H domains thus represent good candidates for primary ciliary dyskinesias.
17 rototypical disorder of respiratory cilia is primary ciliary dyskinesia, an inherited disorder that l
18   Some patients with ciliopathies, including primary ciliary dyskinesia and Bardet-Biedl syndrome, al
19 r of airway nucleotide concentrations in CF, primary ciliary dyskinesia, and alpha1-antitrypsin defic
20 brosis, adult respiratory distress syndrome, primary ciliary dyskinesia, and pulmonary hypertension.
21        Based on a cohort of 12 patients with primary ciliary dyskinesia as well as mouse mutants, we
22                   We report the diagnosis of primary ciliary dyskinesia associated with a circular ci
23 nditions (eg, alpha1-antitrypsin deficiency, primary ciliary dyskinesia), autoimmune diseases (eg, rh
24  diseases that disable ciliary flow, such as primary ciliary dyskinesia, can compromise organ functio
25                   Defects in CCDC103 lead to primary ciliary dyskinesia caused by the loss of outer d
26  Cby(-/-) mice bear striking similarities to primary ciliary dyskinesia, Cby(-/-) mice may prove to b
27                                           In primary ciliary dyskinesia, factors leading to disease h
28 ch the gene was concurrently identified, and primary ciliary dyskinesia, for which causative genes ha
29     Although more than 50 genes causative of primary ciliary dyskinesia have been identified, variant
30   Clinically, COME is highly associated with Primary Ciliary Dyskinesia, implicating significant cont
31                    ccTGA was associated with primary ciliary dyskinesia in 11 patients.
32 ce from diseases such as cystic fibrosis and primary ciliary dyskinesia, in which mucociliary dysfunc
33                                              Primary ciliary dyskinesia is a genetically and clinical
34                                              Primary ciliary dyskinesia is a rare monogenic syndrome
35                                              Primary ciliary dyskinesia is an autosomal recessive dis
36 mozygous CF patients, and a disease control, primary ciliary dyskinesia; it was found to be greater i
37                                              Primary ciliary dyskinesia most often arises from loss o
38    Bronchial cultures from patients with CF, primary ciliary dyskinesia, or alpha1-antitrypsin defici
39 involving human patients and mouse models of primary ciliary dyskinesia over the last decade have unc
40 ver, because loss of cilia motility in human primary ciliary dyskinesia patients is not fully associa
41 ronic muco-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are associated with
42 ship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural def
43                                        Using primary ciliary dyskinesia (PCD) as an exemplar rare gen
44                             The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis
45 ONALE: The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom c
46                                              Primary ciliary dyskinesia (PCD) is a ciliopathy charact
47                                              Primary ciliary dyskinesia (PCD) is a genetic disease ch
48                                              Primary ciliary dyskinesia (PCD) is a genetic disease ch
49                                              Primary ciliary dyskinesia (PCD) is a genetic disorder c
50                                              Primary ciliary dyskinesia (PCD) is a genetic disorder i
51                                              Primary ciliary dyskinesia (PCD) is a genetically hetero
52                                              Primary ciliary dyskinesia (PCD) is a genetically hetero
53                                              Primary ciliary dyskinesia (PCD) is a genetically hetero
54                                              Primary ciliary dyskinesia (PCD) is a genetically hetero
55                                              Primary ciliary dyskinesia (PCD) is a genetically hetero
56                                              Primary ciliary dyskinesia (PCD) is a genetically hetero
57                                   Rationale: Primary ciliary dyskinesia (PCD) is a rare respiratory d
58                                              Primary ciliary dyskinesia (PCD) is a rare, inherited co
59                                              Primary ciliary dyskinesia (PCD) is a rare, usually auto
60                                              Primary ciliary dyskinesia (PCD) is a recessive genetic
61                                              Primary ciliary dyskinesia (PCD) is an autosomal recessi
62                                              Primary ciliary dyskinesia (PCD) is an autosomal recessi
63                                              Primary ciliary dyskinesia (PCD) is an autosomal recessi
64                                              Primary ciliary dyskinesia (PCD) is an inherited chronic
65                                              Primary ciliary dyskinesia (PCD) is caused when defects
66                                              Primary ciliary dyskinesia (PCD) is characterized by dys
67  ciliary dysfunction (CD) similar to that of primary ciliary dyskinesia (PCD) may contribute to incre
68                                              Primary ciliary dyskinesia (PCD) originates from dysfunc
69                                              Primary ciliary dyskinesia (PCD) results from ciliary dy
70 d from normal donors and from a patient with primary ciliary dyskinesia (PCD) whose cilia demonstrate
71 ple phenotypes, some of which are typical of primary ciliary dyskinesia (PCD), a condition caused by
72     ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder
73 nts RSPH1, 3, 4a and 9 have been linked with primary ciliary dyskinesia (PCD), a disorder characteriz
74 Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characteriz
75                                              Primary ciliary dyskinesia (PCD), also known as Kartagen
76 fects in ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder
77 inheritance, for example in cystic fibrosis, primary ciliary dyskinesia (PCD), and select immunodefic
78 cts in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chron
79                Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recur
80 infertility and a congenital disorder called primary ciliary dyskinesia (PCD), in which impaired clea
81 Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known ab
82  in humans and lead to a ciliopathy known as primary ciliary dyskinesia (PCD).
83 n commonly results in the pediatric syndrome primary ciliary dyskinesia (PCD).
84 ilia dysfunction results in diseases such as primary ciliary dyskinesia (PCD).
85 ould be equally sensitive to lung disease in primary ciliary dyskinesia (PCD).
86 se evolutionarily conserved organelles cause primary ciliary dyskinesia (PCD).
87  motile cilia (and the respiratory tract) is primary ciliary dyskinesia (PCD).
88 iliary clearance in the airway and result in primary ciliary dyskinesia (PCD).
89                 Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder
90 al diseases related to cilia defects such as primary ciliary dyskinesia (PCD; OMIM: 612518).
91 n arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydro
92 ction of the central apparatus that includes primary ciliary dyskinesia protein 1 (Pcdp1).
93 the loss of a single gene encoding the novel primary ciliary dyskinesia protein 1 (Pcdp1).
94 FAP221, is an orthologue of mammalian Pcdp1 (primary ciliary dyskinesia protein 1).
95 teries, laterality defects and in some cases primary ciliary dyskinesia, strongly suggest a common pa
96 creening to identify patients with a form of primary ciliary dyskinesia that has been difficult to di
97 ely impaired, the disorder is referred to as primary ciliary dyskinesia, the most common motile cilio
98 in, there is no evidence-based treatment for primary ciliary dyskinesia; therapies aim at relieving s
99                           BE associated with primary ciliary dyskinesia was associated with more SLAs
100 embly factor 6 (DNAAF6), a causative gene of primary ciliary dyskinesia, was isolated as an interacti
101 s a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.
102 re than 40 genes have been reported to cause primary ciliary dyskinesia, with many other genes likely
103  humans, cilia motility deficiencies lead to primary ciliary dyskinesia, with upper-airways recurrent

 
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