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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)

 

Suggested Textbooks

• 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.

 

Online/basic resources

• Online Mendelian Inheritance in Man (OMIM)
• GeneReviews
• PubMed
• Karyotyping exercises
• Dr. Klinepeter's article on "Developmental 'Red Flags'" from Triad Smarty Pants
• Tokyo Medical University Genetics Study Group  

 

American Journal of Medical Genetics, Vol 149A, January 2009

Elements of Morphology: Standard Terminology

• Introduction
• Head and Face
• Periorbital Region
• Ear
• Nose and Philtrum
• Lips, Mouth, and Oral Region
• Hands and Feet

 

Working with children with Genetic conditions and special healthcare needs

•  A Permanent Bond, Am J Med Genet 2002  
•  A Few Moments, Am J Med Genet 2003

 

Selected disorders

• 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

• Ehlers-Danlos syndrome classification, AJMG 1998
• Ehlers-Danlos syndrome hypermobility type, AJMG 2010
• Joint hypermobility - a not so benign condition, Rheumatology 2005
• Revised Marfan syndrome criteria, J Med Genet 2010
• Medical management of Marfan syndrome, Circulation 2008
• Loeys-Dietz syndrome, Curr Opinion in Cardiology 2010  

 

Autism

• Autism review, Lancet 2009
• Genetics autism evaluation, Genet Med 2008

 

Inborn errors of metabolism

• Inborn errors of metabolism part 1, Pediatr in Rev 2009
• Inborn errors of metabolism part 2, Pediatr in Rev 2009
• North Carolina newborn screening, J Inherit Med Dis 2006

 

Genetic testing and Genomics

• Microarray analysis in patients with mental retardation and multiple congenital anomalies, Anal NY Acad Sci 2009
• Genomic medicine primer, NEJM 2010

 

Support Groups

• Exceptional Family Resouce Center
• Trisomy 18, 13 & Related Disorder Support
• Family Support Network of North Carolina
• National Organization for Rare Disorders
• Genetics Education Center - Genetic and Rare Conditions Site
• Piedmont Down Syndrome Support Network
• Muscular Dystrophy Association
• The Children's Tumor Foundation: Ending Neurofibromatosis Through Research