Clinical genetics

Bushby, K., Gardner-Medwin, D. (1993). The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural History. J. Neurol. 240. 98-104. 

Wrabetz, L., Feltri, M. L., Kleopa, K. A. etal. Inherited neuropathies clinical, genetic and biological features. In R. A. Lazzarini (ed.), Myelin Biology and Disorders. San Diego, CA Elsevier Academic Press, 2004, pp. 905-952. 

How Does Genetic Testing in a Research Setting Differ from Clinical Genetic Testing ... 

Strober, M. and Carlson, G. (1982) Bipolar illness in adolescents with major depression clinical, genetic, and psychopharmacologicpredictors in a three-to four-year prospective follow-up investigation. Arch Gen Psychiatry 39 549-555. 

Schadt EE, Monks SA, Friend SH. A new paradigm for drug discovery integrating clinical, genetic, genomic and molecular phenotype data to identify drug targets. Biochem Soc Trans 2003 31 437 43. 

American College of Medical Genetics Standards and Guidelines for Clinical Genetics Labo-ratories http //www.acmg.net/... 

Department of Clinical Genetics Erasmus MC PO Box 1738 3000 DR Rotterdam The Netherlands... 

Kwiatkowski RW, Lyamichev V, de Arruda M, Neri B. Clinical, genetic, and pharmacogenetic applications of the Invader assay. Mol Diagn 1999 4(4) 353-364. 

Many epidemiological, clinical, genetic, and biochemical studies have been conducted since the first widely recognized descriptions of OI in the 18th century. The disease has been shown to be caused by defective synthesis of type I collagen, a triple helical protein made from two a 1(1)- and one a2(I)-chains with fibers that form the structural frame of bone matrix. 

Nicholson LVB, Johnson MA, Bushby KMD, Gardner-Med-win D, Curtis A, et al. 1993. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2 Correlations with individual patients. J Med Genet 30 737-744. 

Bailey A, PhUlips W, Rutter M (1996) Autism towards an integration of clinical, genetic, neuropsychological and neurobiological perspectives. J Child Psychol Psychiatry 37 89-126... 

A danger that was recognised by Pythagoras (Greek philosopher, 580-c500 BC). Nebert D W1999 Clinical Genetics 56 345-347. 

Standards and guidelines for clinical genetics laboratories, 3rd ed. American College of Medical Genetics, 2002. 

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