for Specific Topics
References for Specific Topics Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2008;45:1–14. Bertram L, Lill CM, Tanzi RE….
References
General References Chakravarti A, Clark AG, Mootha VK. Distilling pathophysiology from complex disease genetics. Cell. 2013;155:21–26. Rimoin DL, Pyeritz RE, Korf BR. Emery and Rimoin’s essential medical genetics. Academic Press…
Challenge of Multifactorial Disease with Complex Inheritance
The Challenge of Multifactorial Disease with Complex Inheritance The greatest challenge facing medical genetics and genomic medicine going forward is unraveling the complex interactions between the variants at multiple loci…
and Quantitative Traits
Figure 8-1 A, The normal gaussian distribution, with mean (average) and standard deviations (SDs) indicated. For many traits, the “normal” range is considered the mean ± 2 SD, as indicated by…
References
General References Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Counsel….
of the Family History in Medical Practice
Importance of the Family History in Medical Practice Among medical specialties, medical genetics is distinctive in that it focuses not only on the patient but also on the entire family….
Genotype and Phenotype
Correlating Genotype and Phenotype An important component of medical genetics is identifying and characterizing the genotypes responsible for particular disease phenotypes. In doing so, it is important not to adhere…
Effects on Inheritance Patterns
Figure 7-19 Pedigree of a family with paraganglioma syndrome 1 caused by a mutation in the SDHD gene. Individuals II-1, II-2, II-4, III-2, III-3, III-9, III-10, IV-6, IV-7, IV-11, and IV-14 each…
of Mutations and Their Consequences
Nucleotide Substitutions Missense Mutations A single nucleotide substitution (or point mutation) in a gene sequence, such as that observed in the example of achondroplasia just described, can alter the code…
