Ciliopathies : a reference for clinicians.
Kenny, Thomas D.
Ciliopathies : a reference for clinicians. - 1 online resource (301 pages)
Includes bibliographical references and index.
Cover; Contents; List of abbreviations; Gene list; List of contributors; 1 Towards the diagnosis of a ciliopathy; 2 Alström syndrome; 3 Jeune syndrome and the ciliary chondrodysplasias; 4 Joubert syndrome and Joubert syndrome-related disorders; 5 Bardet-Biedl syndrome; 6 Leber congenital amaurosis and other non-syndromic retinal ciliopathies; 7 Meckel-Gruber syndrome; 8 Nephronophthisis; 9 Oral-facial-digital type I syndrome; 10 Autosomal dominant polycystic kidney disease; 11 Autosomal recessive polycystic kidney disease; 12 Primary ciliary dyskinesia; 13 Usher syndrome. 14 Syndromes not yet proven to be ciliopathiesIndex; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; R; S; T; U; V; W.
The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a descr.
English.
0199658765 9780199658763 1299966748 9781299966741 9780191633362 0191633364
527925 MIL
Cilia and ciliary motion.
Genetic disorders.
Otolaryngology.
Biology.
Respiratory organs--Diseases.
Diseases.
Life sciences.
Medical personnel.
Physical sciences.
Cells.
Anatomy.
Otorhinolaryngologic Diseases
Cell Surface Extensions
Disease Attributes
Biology
Respiratory Tract Diseases
Medicine
Pathologic Processes
Disease
Cellular Structures
Biological Science Disciplines
Health Occupations
Pathological Conditions, Signs and Symptoms
Natural Science Disciplines
Disciplines and Occupations
Cells
Anatomy
Cilia
Ciliary Motility Disorders
Rare Diseases
Genetics
Pathology
Genetic Diseases, Inborn
Respiration Disorders
Health Workforce
Health Personnel
Animal Structures
Maladies génétiques.
Maladies oto-rhino-laryngologiques.
Prolongements cytoplasmiques.
Biologie.
Appareil respiratoire--Maladies.
Maladies.
Sciences de la vie.
Personnel médical.
Sciences physiques.
Cellules.
Anatomie.
Cils vibratiles.
Syndrome des cils immobiles.
biology.
illness.
disease.
biological sciences.
physical sciences.
anatomy.
HEALTH & FITNESS--Diseases--General.
MEDICAL--Clinical Medicine.
MEDICAL--Diseases.
MEDICAL--Evidence-Based Medicine.
MEDICAL--Internal Medicine.
Cilia and ciliary motion.
Genetic disorders.
Electronic books.
QL369
616.042
2014 A-268 WF 140
Ciliopathies : a reference for clinicians. - 1 online resource (301 pages)
Includes bibliographical references and index.
Cover; Contents; List of abbreviations; Gene list; List of contributors; 1 Towards the diagnosis of a ciliopathy; 2 Alström syndrome; 3 Jeune syndrome and the ciliary chondrodysplasias; 4 Joubert syndrome and Joubert syndrome-related disorders; 5 Bardet-Biedl syndrome; 6 Leber congenital amaurosis and other non-syndromic retinal ciliopathies; 7 Meckel-Gruber syndrome; 8 Nephronophthisis; 9 Oral-facial-digital type I syndrome; 10 Autosomal dominant polycystic kidney disease; 11 Autosomal recessive polycystic kidney disease; 12 Primary ciliary dyskinesia; 13 Usher syndrome. 14 Syndromes not yet proven to be ciliopathiesIndex; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; R; S; T; U; V; W.
The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a descr.
English.
0199658765 9780199658763 1299966748 9781299966741 9780191633362 0191633364
527925 MIL
Cilia and ciliary motion.
Genetic disorders.
Otolaryngology.
Biology.
Respiratory organs--Diseases.
Diseases.
Life sciences.
Medical personnel.
Physical sciences.
Cells.
Anatomy.
Otorhinolaryngologic Diseases
Cell Surface Extensions
Disease Attributes
Biology
Respiratory Tract Diseases
Medicine
Pathologic Processes
Disease
Cellular Structures
Biological Science Disciplines
Health Occupations
Pathological Conditions, Signs and Symptoms
Natural Science Disciplines
Disciplines and Occupations
Cells
Anatomy
Cilia
Ciliary Motility Disorders
Rare Diseases
Genetics
Pathology
Genetic Diseases, Inborn
Respiration Disorders
Health Workforce
Health Personnel
Animal Structures
Maladies génétiques.
Maladies oto-rhino-laryngologiques.
Prolongements cytoplasmiques.
Biologie.
Appareil respiratoire--Maladies.
Maladies.
Sciences de la vie.
Personnel médical.
Sciences physiques.
Cellules.
Anatomie.
Cils vibratiles.
Syndrome des cils immobiles.
biology.
illness.
disease.
biological sciences.
physical sciences.
anatomy.
HEALTH & FITNESS--Diseases--General.
MEDICAL--Clinical Medicine.
MEDICAL--Diseases.
MEDICAL--Evidence-Based Medicine.
MEDICAL--Internal Medicine.
Cilia and ciliary motion.
Genetic disorders.
Electronic books.
QL369
616.042
2014 A-268 WF 140