|
| 35897151 | Amiodarone-sirolimus interaction in a neonate with tuberous sclerosis complex. | Cardiol Young | 2023 |
| 37860582 | Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis. | Front Mol Biosci | 2023 |
| 37516247 | Primary ciliary dyskinesia. | Presse Med | 2023 |
| 37892643 | Mapping the Most Common Founder Variant in <i>RSPH9</i> That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs. | J Clin Med | 2023 |
| 37606226 | Male minipuberty in human and non-human primates: planting the seeds of future fertility. | Reproduction | 2023 |
| 35613303 | Crosstalk between cilia and autophagy: implication for human diseases. | Autophagy | 2023 |
| 36878953 | Mucociliary Wnt signaling promotes cilia biogenesis and beating. | Nat Commun | 2023 |
| 36873931 | Pathogenic gene variants in <i>CCDC39</i>, <i>CCDC40</i>, <i>RSPH1</i>, <i>RSPH9</i>, <i>HYDIN,</i> and <i>SPEF2</i> cause defects of sperm flagella composition and male infertility. | Front Genet | 2023 |
| 36727596 | Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia. | Genet Med | 2023 |
| 35202559 | Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure. | Ann Am Thorac Soc | 2022 |
| 35773805 | The ERN-LUNG Population Registry: Aims, Software-Implementation and First Results. | Stud Health Technol Inform | 2022 |
| 35470956 | The role of cilia for hydrocephalus formation. | Am J Med Genet C Semin Med Genet | 2022 |
| 36074124 | Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities. | Genet Med | 2022 |
| 36303540 | Identification of a novel founder variant in <i>DNAI2</i> cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula. | Front Genet | 2022 |
| 35983540 | The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN. | ERJ Open Res | 2022 |
| 36047773 | Recessive Mutations in <i>CFAP74</i> Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure. | Am J Respir Cell Mol Biol | 2022 |
| 35006274 | Consensus nomenclature for dyneins and associated assembly factors. | J Cell Biol | 2022 |
| 35271842 | Comparison of the Lung Clearance Index in Preschool Children With Primary Ciliary Dyskinesia and Cystic Fibrosis. | Chest | 2022 |
| 34115122 | Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. | Dis Model Mech | 2021 |
| 33872655 | Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. | J Allergy Clin Immunol | 2021 |
| 33561200 | Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system. | Mol Hum Reprod | 2021 |
| 33501962 | First Reported Nosocomial Outbreak of Severe Acute Respiratory Syndrome Coronavirus 2 in a Pediatric Dialysis Unit. | Clin Infect Dis | 2021 |
| 33635866 | Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. | PLoS Genet | 2021 |
| 34575997 | Current and Future Treatments in Primary Ciliary Dyskinesia. | Int J Mol Sci | 2021 |
| 34077761 | Mutations in TP73 cause impaired mucociliary clearance and lissencephaly. | Am J Hum Genet | 2021 |
| 34042874 | The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases - Background, Conception and Implementation. | Stud Health Technol Inform | 2021 |
| 34350277 | International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives. | ERJ Open Res | 2021 |
| 33987100 | Extracorporeal Membrane Oxygenation in Children With Cancer or Hematopoietic Cell Transplantation: Single-Center Experience in 20 Consecutive Patients. | Front Oncol | 2021 |
| 31624012 | Primary ciliary dyskinesia in the genomics age. | Lancet Respir Med | 2020 |
| 32060067 | International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). | Eur Respir J | 2020 |
| 31996837 | Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. | Nat Med | 2020 |
| 31959991 | A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. | Nat Med | 2020 |
| 33139725 | CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. | Nat Commun | 2020 |
| 33131181 | Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. | Hum Mutat | 2020 |
| 32943623 | Motile ciliopathies. | Nat Rev Dis Primers | 2020 |
| 32964005 | Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia. | ERJ Open Res | 2020 |
| 32876341 | SARS-CoV-2 targets neurons of 3D human brain organoids. | EMBO J | 2020 |
| 32494577 | Registries and collaborative studies for primary ciliary dyskinesia in Europe. | ERJ Open Res | 2020 |
| 32380069 | Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial. | Lancet Respir Med | 2020 |
| 32492556 | Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual. | Stem Cell Res | 2020 |
| 32512309 | Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line. | Stem Cell Res | 2020 |
| 31545650 | <i>SPEF2-</i> and <i>HYDIN</i>-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. | Am J Respir Cell Mol Biol | 2020 |
| 30408808 | Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study. | Respiration | 2019 |
| 31699224 | Errors in Methodology Affect Diagnostic Accuracy of High-Speed Videomicroscopy Analysis in Primary Ciliary Dyskinesia. | Chest | 2019 |
| 31638833 | Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of <i>DNAH5</i> in Humans and Mice. | Circ Genom Precis Med | 2019 |
| 31533829 | Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study. | Respir Res | 2019 |
| 31213628 | Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil. | Sci Rep | 2019 |
| 31437650 | A retrospective analysis of the pathogens in the airways of patients with primary ciliary dyskinesia. | Respir Med | 2019 |
| 31630787 | De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. | Am J Hum Genet | 2019 |
| 31568139 | Acinetobacter baumannii Is a Risk Factor for Lower Respiratory Tract Infections in Children and Adolescents With a Tracheostomy. | Pediatr Infect Dis J | 2019 |