Ciliopathies: a reference for clinicians provides a clinical overview and reference to this newly emergent group of disorders, ranging from Alstr¿m syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research.
Ciliopathies: a reference for clinicians provides a clinical overview and reference to this newly emergent group of disorders, ranging from Alstr¿m syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research.
Philip Beales is Professor of Medical and Molecular Genetics at UCL and Wellcome Trust Senior Research Fellow in Clinical Science. He is Director of the Centre for Translational Genomics (GOSgene) and Head of the Cilia Disorders Laboratory at the UCL Institute of Child Health. He is best known for his clinical and genetic research into rare diseases especially, the ciliopathies, culminating in novel gene discoveries for Bardet-Biedl syndrome, Jeune Asphyxiating Thoracic Dystrophy, Cranioectodermal dysplasia, Acrocallosal Syndrome and several other disorders. He, with colleagues, was the first to attribute the Bardet-Biedl syndrome phenotype to dysfunctional primary cilia. Philip is a consultant in clinical genetics at Great Ormond Street Hospital for Children and Guys Hospital; National lead for the Department of Health specialist commissioned Bardet-Biedl syndrome clinical and diagnostic service; chairman of the UCL Rare Diseases Steering Committee and co-editor in Chief of CILIA.
Inhaltsangabe
* 1: Philip L. Beales and Thomas D. Kenny: Towards the diagnosis of a ciliopathy * 2: Richard Paisey: Alström Syndrome * 3: Miriam Schmidts: Jeune Syndrome and the ciliary chondrodysplasias * 4: Victoria Harrison and Andrea H. Nemeth: Joubert syndrome and Joubert Syndrome related disorders * 5: Philip L. Beales and Elizabeth Forsythe: Bardet-Biedl Syndrome * 6: Thomas D. Kenny, Philip L. Beales, and Ronald Roepman: Leber congenital amaurosis and other non-syndromic retinal ciliopathies * 7: Gabrielle Wheway and Colin A. Johnson: Meckel-Gruber Syndrome * 8: Shalabh Srivastava and John A. Sayer: Nephronophthisis * 9: Brunella Franco: Oral-facial-digital syndromes * 10: Richard Sandford: Autosomal dominant polycystic kidney disease * 11: Carsten Bergman: Autosomal recessive polycystic kidney disease * 12: Claire Hogg: Primary ciliary dyskinesia * 13: Maria Bitner-Glindzicz and Zubin Saihan: Usher Syndrome * 14: Kate Baker: Syndromes not yet proven to be ciliopathies
* 1: Philip L. Beales and Thomas D. Kenny: Towards the diagnosis of a ciliopathy * 2: Richard Paisey: Alström Syndrome * 3: Miriam Schmidts: Jeune Syndrome and the ciliary chondrodysplasias * 4: Victoria Harrison and Andrea H. Nemeth: Joubert syndrome and Joubert Syndrome related disorders * 5: Philip L. Beales and Elizabeth Forsythe: Bardet-Biedl Syndrome * 6: Thomas D. Kenny, Philip L. Beales, and Ronald Roepman: Leber congenital amaurosis and other non-syndromic retinal ciliopathies * 7: Gabrielle Wheway and Colin A. Johnson: Meckel-Gruber Syndrome * 8: Shalabh Srivastava and John A. Sayer: Nephronophthisis * 9: Brunella Franco: Oral-facial-digital syndromes * 10: Richard Sandford: Autosomal dominant polycystic kidney disease * 11: Carsten Bergman: Autosomal recessive polycystic kidney disease * 12: Claire Hogg: Primary ciliary dyskinesia * 13: Maria Bitner-Glindzicz and Zubin Saihan: Usher Syndrome * 14: Kate Baker: Syndromes not yet proven to be ciliopathies
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