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Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.62586
◽
2021
◽
Author(s):
Samuel LeBlanc
◽
Eric P. Allain
◽
Gabriel Girouard
◽
Marcel Mallet
◽
Mouna Ben Amor
Keyword(s):
Primary Ciliary Dyskinesia
◽
Pathogenic Variant
◽
Vascular Anomalies
◽
Ciliary Dyskinesia
Download Full-text
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References
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
Author(s):
K. Takeuchi
Keyword(s):
Primary Ciliary Dyskinesia
◽
Genetic Diagnosis
◽
Next Generation
◽
Next Generation Sequencer
◽
Ciliary Dyskinesia
Download Full-text
Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia
Emerging Infectious Diseases
◽
10.3201/eid2608.191613
◽
2020
◽
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
Download Full-text
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
Faculty Opinions recommendation of Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.721627008.793504018
◽
2015
◽
Author(s):
Nicholas Katsanis
Keyword(s):
Primary Ciliary Dyskinesia
◽
Ciliary Dyskinesia
◽
Ciliary Ultrastructure
Download Full-text
Faculty Opinions recommendation of Factors influencing age at diagnosis of primary ciliary dyskinesia in European children.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.722035431.793504016
◽
2015
◽
Author(s):
Nicholas Katsanis
Keyword(s):
Primary Ciliary Dyskinesia
◽
Age At Diagnosis
◽
Factors Influencing
◽
Ciliary Dyskinesia
Download Full-text
Faculty Opinions recommendation of Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.725182309.793504017
◽
2015
◽
Author(s):
Nicholas Katsanis
Keyword(s):
Longitudinal Study
◽
Lung Function
◽
Primary Ciliary Dyskinesia
◽
Cross Sectional
◽
Ciliary Dyskinesia
Download Full-text
Faculty Opinions recommendation of Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.725353456.793504025
◽
2015
◽
Author(s):
Nicholas Katsanis
Keyword(s):
Chlamydomonas Reinhardtii
◽
Primary Ciliary Dyskinesia
◽
Human Gene
◽
Loss Of Function
◽
Ciliary Dyskinesia
Download Full-text
ePS2.02 Comparison of sleep disorders between patients with primary ciliary dyskinesia and cystic fibrosis with and without pancreatic insufficiency
Journal of Cystic Fibrosis
◽
10.1016/s1569-1993(19)30250-4
◽
2019
◽
Vol 18
◽
pp. S42
Author(s):
M. Cohen-Cymberknoh
◽
O. Atia
◽
A. Gileles-Hillel
◽
E. Kerem
◽
J. Reiter
Keyword(s):
Cystic Fibrosis
◽
Sleep Disorders
◽
Primary Ciliary Dyskinesia
◽
Pancreatic Insufficiency
◽
Ciliary Dyskinesia
Download Full-text
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