M2M+Unit+II+Recommended+Reading

Gregor Mendel (courtesy of Wikipedia) || - Stankiewicz, P and Lupski, JR (2002) Genome architecture, rearrangements and genomic disorders. Trends in Genetics 18:74-82. - The International Human Sequencing Consortium (2001) The human genome: sequencing and initial analysis. Nature 409:860-921. - Venter, JC, Adams, MD, Myers, EW, et al. (2001) The sequence of the human genome. Science 291:1304-1351 || - Wilkinson GR, “Drug metabolism and variability among patients in drug response” in New England Journal of Medicine 352:2211-21, 2005. @http://www.nigms.nih.gov/Initiatives/PGRN/ @http://publications.nigms.nih.gov/medsforyou/ || Problems 1-6, 8. Clinical Cases: Sex Reversal (p. 306), Turner Syndrome (p. 318) || //- Langman’s Medical Embryology// (8th edition) Pages 319-344 - Carlson, //Human Embryology and Developmental Biology// 2004 (Digital 2008) //- Growth, Genetics and Hormones//, Disorders of Sex Development: Making Ambiguity Less Ambiguous, 23(3) November 2007. www.GGHjournal.com || Genetics Home Reference from National Library of Medicine || Alpha-1-Antitrypsin Deficiency Tay-Sachs Disease || 2) Chapter 13, pp 404-5. 3) Clinical case studies 37 (pp 308-9) and 39 (pp 312-3). 4) Problems of Chapter 11 (pp 343). ||  || - ENSEMBL Genome Browser - UCSC Genome Bioinformatics - Mouse Genome Informatics || @http://projects.tcag.ca/variation @https://decipher.sanger.ac.uk/application/ || National Cancer Institute ||
 * || **Lehninger Principles of Biochemistry, 5****th** **Edition** || **Alberts et al Molecular Biology of the Cell, 4****th** **Edition** || **Thompson and Thompson Genetics in Medicine, 7****th** **Edition** || **Other** ||
 * Introduction to Pedigree ||  ||   || p. 115-118; Case 18 (p. 268-69) || @https://familyhistory.hhs.gov/ ||
 * Basic Mendelian Inheritance & Population Genetics ||  ||   || p.115-122, 175-177, 180-184, 192-204 || OMIM
 * Human Genome Organization ||  ||   || p. 8-13; 25-30, 184-186 || - Sikela, J.M. (2006) The jewels of our genome: the search for the genomic changes underlying the evolutionary unique capacities of the human brain. PLoS Genet., May;2(5):e80, 2006.
 * Pharmacogenetics ||  ||   || p. 497-505; Case 16 (p. 264-5); Case 40 (p. 314-5) || - U.A. Meyer, “Pharmacogenetics-five decades of therapeutic lessons from genetic diversity” in Nature Reviews Genetics 5:669-678, 2004
 * Numerical Chromosomal Abnormalities ||  ||   || p. 15-23, 59-62, 65-68, 89-95, 105-109 ||   ||
 * Biochemical Basis of Mendelian Genetic Disorders ||  ||   ||   ||   ||
 * Structural Chromosomal Abnormalities ||  ||   || p. 68-75, 89-94, 95-98. ||   ||
 * Genetic Imprinting ||  ||   || p. 77-81, 137-139, 300-301. ||   ||
 * Determination of Sex ||  ||   || p. 98-112.
 * Multifactorial Inheritance ||  ||   || Chapter 8 Genetics of Common Disorders with Complex Inheritance || Online Mendelian Inheritance in Man (OMIM)
 * Autosomal Recessive Disorders ||  ||   || p. 349-351, 358-359, 402, 196, 352-353. Clinical Case Studies 38 (p. 310-311). || Phenylketonuria
 * Molecular Genetics of Hemoglobinopathies ||  ||   || 1) Chapter 11, pp 323-342.
 * Finding Disease Genes ||  ||   || Chapter 10 || - National Center for Biotechnology Information
 * Autosomal Dominant Disorders ||  ||   || Chapter 7. ||   ||
 * X-Linked Recessive Inheritance and Mitochondrial Diseases ||  ||   || Chapter 7, Chapter 12 ||   ||
 * Cytogenetics ||  ||   || p. 59-77; 186 (“copy number polymorphisms” paragraph only). || www.genetests.org
 * Genetic Counseling ||  ||   || p. 276-277, 507-509, 519-520, 523-529. ||   ||
 * Molecular Analysis of Mendelian Inherited Disorders ||  ||   || Chapter 4, Chapter 12. ||   ||
 * Genetic Testing ||  ||   || Chapter 4 || GeneTests
 * Treatment of Genetic Disease ||  ||   || Chapter 13 (p. 393-405, 410-416) || HGP ||
 * Research Ethics I ||  ||   ||   || The Belmont Report ||

=Clinical Vignettes=
 * || **Reading** || **Electronic Resources** ||
 * Down's syndrome ||  ||   ||
 * Prader-Willi syndrome ||  ||   ||
 * Thalassemia ||  ||   ||

=Bench to Bedside=

management”. British Journal of Hematology, (2005) 129, 178-188. - F.M. Platt and R. Lachmann “Treating lysosomal storage disorders: Current practice and future prospects”. Biochim. Biophys. Acta (2009) ||
 * || **Materials** ||
 * Gaucher || - M. Jmoudiak and A.H. Futerman “Gaucher disease: pathological mechanisms and modern