Alport syndrome: a unified classification of genetic disorders of collagen IV alpha345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93(5):1045-51.Kashtan, C.E. et al. Alport syndrome: a unified classification of genetic disorders of collagen IV alpha...
This technology has made it possible to obtain pluripotent stem cells from individuals with genetic disorders. Because iPSCs ca... Tanaka,Atsushi,Yuasa,... 被引量: 21发表: 2015年 Genomics of Cardiovascular Disease As the leading cause of death worldwide and a major cause of disability, ...
American Journal of Medical Genetics Part AWarman ML, Cormier-Daire V, Hall C et al (2011) Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155:943–968 CentralWarman, M.L., Cormier-Daire, V., Hall, C., Krakow, D., Lach- man, R., ...
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagno...
The number of newly uncovered mutations and identified genetic loci is rapidly increasing, and, as a consequence, the classification of these disorders is ... D Pareyson - 《Muscle & Nerve》 被引量: 433发表: 1999年 Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabol...
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent ...
Substance use and misuse exist at a hierarchy of disorders. Some forms of substance use, e.g., alcohol, are non-harmful or at least very low risk, while others, such as the prescription of benzodiazepines, are medically appropriate in certain circumstances. However, alcohol, certain prescribed...
Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural or copy-number variants, sma
New Perspectives for the Elucidation of Genetic Disorders - ScienceDirect For almost 15 years, genome research has focused on the search for major risk factors in common diseases, with disappointing results. Only recently, whole-... HH Ropers - 《American Journal of Human Genetics》 被引量: ...
Despite the high incidence of cystic kidney diseases, affected families are not usually well informed of the inheritance of these disorders. Genetic counselling must be based on precise diagnostic criteria. Detailed information on the different types of cystic kidney disease is summarized, including clin...