Hogg C. Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it. Paediatr Respir Rev ; 10 2 : Modeling human disease in humans: the ciliopathies. Cell ; 1 :
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Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. DOI: Resumen La discinesia ciliar primaria es un trastorno geneticamente determinado que se caracteriza por un movimiento ciliar alterado o ausente.
View via Publisher. Save to Library. Create Alert. Launch Research Feed. Share This Paper. Figures, Tables, and Topics from this paper. Figures and Tables. Situs Inversus. Citations Publications citing this paper. Ochoa-Linares Medicine Primary ciliary dyskinesia: clinical criteria indicating ultrastructural studies. Rosa M. Busquets , M. Medical Imaging Graph.
Ochoa-Linares Medicine Semergen Optical flow method in phase-contrast microscopy images for the diagnosis of primary ciliary dyskinesia through measurement of ciliary beat frequency. References Publications referenced by this paper. Cilia and disease. Lorraine Eley , Laura M. Yates , Judith A. The ciliopathies: an emerging class of human genetic disorders. Jose L. Primary ciliary dyskinesia: current state of the art.
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity J. RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.
2016, Número 1-2
Clinical and ultrastructural features of ciliary dyskinesia. Santiago de Chile. Background: Ciliary dyskinesia CD is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. Aim: To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. Patients and Methods: Retrospective review of medical records and electron microscopy findings of 33 patients aged 1 to 21 years, 14 females with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done.
Discinesia ciliar primaria. Ciliopatías
Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. DOI: Resumen La discinesia ciliar primaria es un trastorno geneticamente determinado que se caracteriza por un movimiento ciliar alterado o ausente. View via Publisher. Save to Library. Create Alert.
Primary ciliary dyskinesia , also known as immotile cilia syndrome , is the result of a congenital defect in the ultrastructure of cilia that renders them incapable of normal movement. It is associated with a number of anatomic and functional abnormalities. Primary ciliary dyskinesia is caused by a heterogeneous group of genetic abnormalities which are inherited in an autosomal recessive pattern. The incidence variably estimated at ,, 4,5. As cilia are found in a number of locations both during the embryological period and extra-uterine life it is not surprising that a number of systems are involved.