Primary Ciliary Dyskinesia
What's New
Last Posted: Sep 30, 2021
- Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway Gabrielle et al. BMC medical genomics 2021 14(1) 234 - Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guan Yuhong et al. Chest 2021 Feb - Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?
Bañuls Lucía et al. Journal of clinical medicine 2020 Aug 9(8) - An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin Hanan E et al. Human genetics 2020 May - Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón Noelia et al. Archivos de bronconeumologia 2020 Apr - A genomics approach to females with infertility and recurrent pregnancy loss.
Maddirevula Sateesh et al. Human genetics 2020 Mar - Clinical Annotation Research Kit (CLARK): Computable Phenotyping Using Machine Learning.
Pfaff Emily R et al. JMIR medical informatics 2020 Jan 8(1) e16042 - Long-term Antibiotics Ease Symptoms of Genetic Lung Disorder
I Hein, Medscape, October 4, 2019 - Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Leung Gordon K C et al. BMC medical genomics 2018 Oct 11(1) 93 - Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.
Shapiro Adam J et al. Pediatric pulmonology 2015 Sep
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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