References for Rotating Residents and Students
Below is a list of references for the rotation in Medical Genetics. For access to most of the articles, you need to be on campus or logged-in remotely.
Basic Genetics Schedule (but please review schedules in Centricity for most up-to-date clinic schedule)
- Nussbaum, McInnes, Willard (eds). Thompson and Thompson Genetics in Medicine, 2007.
- Jones (ed). Smith's Recognizable Patterns of Human Malformation, 2006.
- Hennekam, Krantz, Allanson (eds). Gorlin's Syndromes of the Head and Neck. 2010.
American Journal of Medical Genetics, Vol 149A, January 2009
Elements of Morphology: Standard Terminology
Working with children with Genetic conditions and special healthcare needs
- Welcome to Holland (a poem about having a child with a birth defect or genetic syndrome)
- Health supervision for children with Down syndrome, Pediatrics 2011
- Health supervision for children with Neurofibromatosis type 1, Pediatrics 2008
- Health supervision for children with Fragile X syndrome, Pediatrics 2011
- Care of girls and women with Turner syndrome, J Clin Endo Metab 2007
- Fragile X: A family of disorders, Adv Pediatr 2009
- Fetal alcohol spectrum disorders (1), Pediatrics 2004
- Fetal alcohol spectrum disorders (2), Neurosci Biobehav Rev 2007
- Short stature syndromes and epigenetics, Am J Med Genet 2010
- Isolated hemihyperplasia, Genet Med 2009
- Genetic evaluation of hypotonia, Develop Med and Child Neurol 2011
Connective tissue conditions
Inborn errors of metabolism
Genetic testing and Genomics