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

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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

Author(s):

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

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

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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

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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

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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

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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

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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

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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

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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

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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

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