Genetics Reading List

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Content provided by NU Department of Pediatrics

Updated 01/04

Pediatric Genetics Reading List

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Jones KL, Ed.: Genetics, Genetic Counseling, and Prevention. In Smith’s Recognizable Patterns of Human Malformation ,5th Ed., W.B. Saunders, 1997.
Burton BK. Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis. Pediatrics. 1998 Dec;102(6):E69.
Morris CA. Williams Syndrome. GeneReviews 1999.
Cassidy SB, Schwartz S. Prader-Willi Syndrome. GeneReviews 2000.
Seashore, MR. The Organic Acidemias: An Overview. GeneReviews 2001.
Allanson, JE. Noonan Syndrome. GeneReviews 2001.
Friedman, JM. Neurofibromatosis Type 1. GeneReviews 1998.
Dietz, H. Marfan Syndrome. GeneReviews 2001.
Saul, RA. Fragile X Syndrome. GeneReviews 2000.
Munnich A, Rustin P. Clinical Spectrum and Diagnosis of Mitochondrial Disorders. Am J Med Genet. 2001 Spring;106(1):4-17.
Beighton P, DePaepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1997. Am J Med Genet. 1998 Apr 28;77(1):31-7.
DePaepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE. Revised Diagnostic Criteria for the Marfan Syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26
American Academy of Pediatrics Committee on Genetics 2000-2001. Health Supervision for Children with Down Syndrome. Pediatrics. 1994 May;93(5):855-9.
American Academy of Pediatrics Committee on Genetics 1995-1996. Health Supervision for Children with Fragile X Syndrome. Pediatrics. 1996 Aug;98(2 Pt 1):297-300.
American Academy of Pediatrics Committee on Genetics 1994-1995. Health Supervision for Children with Turner Syndrome. Pediatrics. 1995 Dec;96(6):1166-73.
American Academy of Pediatrics Committee on Genetics 1995-1996. Health Supervision for Children with Marfan Syndrome. Pediatrics. 1996 Nov;98(5):978-82.
American Academy of Pediatrics Committee on Genetics 1994-1995. Health Supervision for Children with Achondroplasia. Pediatrics. 1995 Mar;95(3):443-51.
American Academy of Pediatrics Committee on Genetics 1994-1995. Health Supervision for Children with Neurofibromatosis. Pediatrics. 1995 Aug;96(2 Pt 1):368-72.