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1 mately 70% of patients known to have primary ciliary dyskinesia.
2  proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia.
3 this ratio, mimicking the ciliopathy primary ciliary dyskinesia.
4 ne-rich repeat that in humans causes primary ciliary dyskinesia.
5 ilia and offers a new model of human primary ciliary dyskinesia.
6 tic fibrosis, and ciliary defects of primary ciliary dyskinesia.
7 h the exception being a subject with primary ciliary dyskinesia.
8 se (PKD), Bardet-Biedl syndrome, and primary ciliary dyskinesia.
9 s found to be greater in both CF and primary ciliary dyskinesia.
10 ntrol group 3 included patients with primary ciliary dyskinesia.
11 rways, such as in cystic fibrosis or primary ciliary dyskinesia.
12 mily, twins both displayed ccTGA and primary ciliary dyskinesia.
13 the axonemal superstructure leads to primary ciliary dyskinesia.
14  abnormalities in motile cilia cause primary ciliary dyskinesia.
15 fluids, and their dysfunction causes primary ciliary dyskinesia.
16 s thus represent good candidates for primary ciliary dyskinesias.
17 cal disorder of respiratory cilia is primary ciliary dyskinesia, an inherited disorder that leads to
18 atients with ciliopathies, including primary ciliary dyskinesia and Bardet-Biedl syndrome, also suffe
19 phic mutations of human DNAAF2 can result in ciliary dyskinesia and identify Dnaaf2 as an essential c
20 d intermediate chains, have been linked with ciliary dyskinesia and skeletal dysplasia.
21 way nucleotide concentrations in CF, primary ciliary dyskinesia, and alpha1-antitrypsin deficiency.
22 adult respiratory distress syndrome, primary ciliary dyskinesia, and pulmonary hypertension.
23 ased on a cohort of 12 patients with primary ciliary dyskinesia as well as mouse mutants, we identifi
24           We report the diagnosis of primary ciliary dyskinesia associated with a circular ciliary be
25  (eg, alpha1-antitrypsin deficiency, primary ciliary dyskinesia), autoimmune diseases (eg, rheumatoid
26 s that disable ciliary flow, such as primary ciliary dyskinesia, can compromise organ function or the
27           Defects in CCDC103 lead to primary ciliary dyskinesia caused by the loss of outer dynein ar
28 ) mice bear striking similarities to primary ciliary dyskinesia, Cby(-/-) mice may prove to be a usef
29                                   In primary ciliary dyskinesia, factors leading to disease heterogen
30 ene was concurrently identified, and primary ciliary dyskinesia, for which causative genes have been
31 ough more than 50 genes causative of primary ciliary dyskinesia have been identified, variants in the
32 ally, COME is highly associated with Primary Ciliary Dyskinesia, implicating significant contribution
33            ccTGA was associated with primary ciliary dyskinesia in 11 patients.
34 diseases such as cystic fibrosis and primary ciliary dyskinesia, in which mucociliary dysfunction pre
35                                      Primary ciliary dyskinesia is a genetically and clinically heter
36                                      Primary ciliary dyskinesia is a rare monogenic syndrome that is
37                                      Primary ciliary dyskinesia is an autosomal recessive disorder ch
38  CF patients, and a disease control, primary ciliary dyskinesia; it was found to be greater in both C
39                                      Primary ciliary dyskinesia most often arises from loss of the dy
40 eletal function, including manifestations of ciliary dyskinesia, neuronal loss, and defects in B and
41 hial cultures from patients with CF, primary ciliary dyskinesia, or alpha1-antitrypsin deficiency exh
42 g human patients and mouse models of primary ciliary dyskinesia over the last decade have uncovered a
43 ause loss of cilia motility in human primary ciliary dyskinesia patients is not fully associated with
44 co-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are associated with lateral
45 ween clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and
46                                Using primary ciliary dyskinesia (PCD) as an exemplar rare genetic res
47                     The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of cilia
48 he standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists
49                                      Primary ciliary dyskinesia (PCD) is a ciliopathy characterized b
50                                      Primary ciliary dyskinesia (PCD) is a genetic disease characteri
51                                      Primary ciliary dyskinesia (PCD) is a genetic disease characteri
52                                      Primary ciliary dyskinesia (PCD) is a genetic disorder character
53                                      Primary ciliary dyskinesia (PCD) is a genetic disorder in which
54                                      Primary ciliary dyskinesia (PCD) is a genetically heterogeneous
55                                      Primary ciliary dyskinesia (PCD) is a genetically heterogeneous
56                                      Primary ciliary dyskinesia (PCD) is a genetically heterogeneous
57                                      Primary ciliary dyskinesia (PCD) is a genetically heterogeneous
58                                      Primary ciliary dyskinesia (PCD) is a genetically heterogeneous
59                                      Primary ciliary dyskinesia (PCD) is a genetically heterogeneous,
60                           Rationale: Primary ciliary dyskinesia (PCD) is a rare respiratory disorder
61                                      Primary ciliary dyskinesia (PCD) is a rare, inherited condition
62                                      Primary ciliary dyskinesia (PCD) is a rare, usually autosomal re
63                                      Primary ciliary dyskinesia (PCD) is a recessive genetic disorder
64                                      Primary ciliary dyskinesia (PCD) is an autosomal recessive disea
65                                      Primary ciliary dyskinesia (PCD) is an autosomal recessive disor
66                                      Primary ciliary dyskinesia (PCD) is an autosomal recessive disor
67                                      Primary ciliary dyskinesia (PCD) is an inherited chronic respira
68                                      Primary ciliary dyskinesia (PCD) is caused when defects of motil
69                                      Primary ciliary dyskinesia (PCD) is characterized by dysfunction
70  dysfunction (CD) similar to that of primary ciliary dyskinesia (PCD) may contribute to increased res
71                                      Primary ciliary dyskinesia (PCD) originates from dysfunction of
72                                      Primary ciliary dyskinesia (PCD) results from ciliary dysfunctio
73 ormal donors and from a patient with primary ciliary dyskinesia (PCD) whose cilia demonstrated an abs
74 otypes, some of which are typical of primary ciliary dyskinesia (PCD), a condition caused by motile c
75 defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of cilia
76 n mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by ch
77 1, 3, 4a and 9 have been linked with primary ciliary dyskinesia (PCD), a disorder characterized by ci
78                                      Primary ciliary dyskinesia (PCD), also known as Kartagener's syn
79  ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder of cilia
80 nce, for example in cystic fibrosis, primary ciliary dyskinesia (PCD), and select immunodeficiencies(
81 otile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airwa
82        Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent res
83 ity and a congenital disorder called primary ciliary dyskinesia (PCD), in which impaired clearance of
84  disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its
85 ns and lead to a ciliopathy known as primary ciliary dyskinesia (PCD).
86 ly results in the pediatric syndrome primary ciliary dyskinesia (PCD).
87 function results in diseases such as primary ciliary dyskinesia (PCD).
88 equally sensitive to lung disease in primary ciliary dyskinesia (PCD).
89 tionarily conserved organelles cause primary ciliary dyskinesia (PCD).
90 cilia (and the respiratory tract) is primary ciliary dyskinesia (PCD).
91 learance in the airway and result in primary ciliary dyskinesia (PCD).
92         Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affectin
93 ses related to cilia defects such as primary ciliary dyskinesia (PCD; OMIM: 612518).
94 sembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus
95  the central apparatus that includes primary ciliary dyskinesia protein 1 (Pcdp1).
96  of a single gene encoding the novel primary ciliary dyskinesia protein 1 (Pcdp1).
97 is an orthologue of mammalian Pcdp1 (primary ciliary dyskinesia protein 1).
98 ributors to several human diseases including ciliary dyskinesias, situs inversus, and retinitis pigme
99 laterality defects and in some cases primary ciliary dyskinesia, strongly suggest a common pathogenet
100  to identify patients with a form of primary ciliary dyskinesia that has been difficult to diagnose.
101 ired, the disorder is referred to as primary ciliary dyskinesia, the most common motile ciliopathy.
102 e is no evidence-based treatment for primary ciliary dyskinesia; therapies aim at relieving symptoms
103                   BE associated with primary ciliary dyskinesia was associated with more SLAs, wherea
104                                              Ciliary dyskinesia was observed by videomicroscopy.
105 ctor 6 (DNAAF6), a causative gene of primary ciliary dyskinesia, was isolated as an interacting prote
106 in arm attachment factor that causes primary ciliary dyskinesia when mutated.
107 40 genes have been reported to cause primary ciliary dyskinesia, with many other genes likely to be d
108  cilia motility deficiencies lead to primary ciliary dyskinesia, with upper-airways recurrent infecti

 
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