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Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)
Respiratory Research
◽
10.1186/1465-9921-11-174
◽
2010
◽
Vol 11
(1)
◽
Cited By ~ 20
Author(s):
Ewa Ziętkiewicz
◽
Barbara Nitka
◽
Katarzyna Voelkel
◽
Urszula Skrzypczak
◽
Zuzanna Bukowy
◽
...
Keyword(s):
Gene Mutation
◽
Primary Ciliary Dyskinesia
◽
Mutation Spectrum
◽
Ciliary Dyskinesia
Download Full-text
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◽
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◽
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◽
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◽
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◽
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Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
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◽
10.1186/2046-2530-4-s1-p30
◽
2015
◽
Vol 4
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◽
pp. P30
Author(s):
A Onoufriadis
◽
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◽
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◽
...
Keyword(s):
Primary Ciliary Dyskinesia
◽
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◽
Mutation Spectrum
◽
Motile Cilia
◽
Ciliary Dyskinesia
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A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia
The Indian Journal of Pediatrics
◽
10.1007/s12098-019-02970-z
◽
2019
◽
Vol 86
(7)
◽
pp. 664-665
◽
Cited By ~ 2
Author(s):
Antony Terance Benjamin
◽
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◽
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◽
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◽
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◽
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Keyword(s):
Gene Mutation
◽
Primary Ciliary Dyskinesia
◽
Ciliary Dyskinesia
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Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes
Egyptian Journal of Medical Human Genetics
◽
10.1016/j.ejmhg.2014.08.001
◽
2015
◽
Vol 16
(1)
◽
pp. 95-99
◽
Cited By ~ 3
Author(s):
Makia J. Marafie
◽
Ibrahim S. Al Suliman
◽
Abdullah M. Redha
◽
Abdulrahman M. Alshati
Keyword(s):
Gene Mutation
◽
Primary Ciliary Dyskinesia
◽
Kartagener Syndrome
◽
Ciliary Dyskinesia
Download Full-text
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Cilia
◽
10.1186/2046-2530-1-s1-p91
◽
2012
◽
Vol 1
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◽
Author(s):
M Legendre
◽
S Blanchon
◽
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◽
P Duquesnoy
◽
G Montantin
◽
...
Keyword(s):
Primary Ciliary Dyskinesia
◽
Mutation Spectrum
◽
Ciliary Dyskinesia
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Genetic Diagnosis of Primary Ciliary Dyskinesia Using Next-generation Sequencer
Nihon Kikan Shokudoka Gakkai Kaiho
◽
10.2468/jbes.70.193
◽
2019
◽
Vol 70
(2)
◽
pp. 193-194
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K. Takeuchi
Keyword(s):
Primary Ciliary Dyskinesia
◽
Genetic Diagnosis
◽
Next Generation
◽
Next Generation Sequencer
◽
Ciliary Dyskinesia
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Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia
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◽
10.3201/eid2608.191613
◽
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◽
Vol 26
(8)
◽
Author(s):
Fatemeh Sakhaee
◽
Farzam Vaziri
◽
Golnaz Bahramali
◽
Seyed Davar Siadat
◽
Abolfazl Fateh
Keyword(s):
Primary Ciliary Dyskinesia
◽
Pulmonary Infection
◽
Ciliary Dyskinesia
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Faculty Opinions recommendation of Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1087116.540096
◽
2007
◽
Author(s):
George Witman
Keyword(s):
Congenital Heart Disease
◽
Heart Disease
◽
Primary Ciliary Dyskinesia
◽
Congenital Heart
◽
Large Cohort
◽
Ciliary Dyskinesia
Download Full-text
Faculty Opinions recommendation of Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.14257046.15768219
◽
2012
◽
Author(s):
Mary Porter
Keyword(s):
Primary Ciliary Dyskinesia
◽
Assembly Factor
◽
Axonemal Dynein
◽
Ciliary Dyskinesia
Download Full-text
Faculty Opinions recommendation of Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.718050584.793504030
◽
2015
◽
Author(s):
Nicholas Katsanis
Keyword(s):
Primary Ciliary Dyskinesia
◽
Dynein Arms
◽
Ciliary Dyskinesia
Download Full-text
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