When to suspect a genetic syndrome.
暂无分享,去创建一个
[1] D. Pareyson. Diagnosis of hereditary neuropathies in adult patients , 2003, Journal of Neurology.
[2] D. Judge,et al. Marfan's syndrome , 2005, The Lancet.
[3] D. Belle,et al. Genetic factors in drug metabolism. , 2008, American family physician.
[4] Marni J. Falk,et al. The primary care physician's approach to congenital anomalies. , 2004, Primary care.
[5] K. Jones,et al. Smith's Recognizable Patterns of Human Malformation , 1996 .
[6] H B Newcombe,et al. Genetic disorders in children and young adults: a population study. , 1988, American journal of human genetics.
[7] C. R. Green. The incidence of human maldevelopment. , 1963, American journal of diseases of children.
[8] K. Merritt,et al. The incidence of congenital malformations: a study of 5,964 pregnancies. , 1954, Pediatrics.
[9] D. Pineda-Alvarez,et al. Analysis of genotype–phenotype correlations in human holoprosencephaly , 2010, American journal of medical genetics. Part C, Seminars in medical genetics.
[10] S. McCandless,et al. The burden of genetic disease on inpatient care in a children's hospital. , 2004, American journal of human genetics.
[11] J. Seidman,et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. , 1997, Nature genetics.
[12] J. Moeschler. Genetic evaluation of intellectual disabilities. , 2008, Seminars in pediatric neurology.
[13] P. Beighton,et al. Wormian bones in osteogenesis imperfecta and other disorders , 1982, Skeletal Radiology.
[14] M. S. Marienau,et al. Implications of pharmacogenomics for anesthesia providers. , 2010, AANA journal.
[15] A. Hunter. Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs. , 2002, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.
[16] D. L. Doyle,et al. Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors , 2008, Journal of Genetic Counseling.
[17] W. G. Feero,et al. The clinical content of preconception care: genetics and genomics. , 2008, American journal of obstetrics and gynecology.
[18] S. Kahler,et al. Metabolic disorders and mental retardation , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.
[19] H. Adami,et al. Epidemiology and etiology of Parkinson’s disease: a review of the evidence , 2011, European Journal of Epidemiology.
[20] D. Donnai. Advances in dysmorphology: from diagnosis to treatment. , 2009, Clinical medicine.
[21] J. Seidman,et al. Erratum: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome , 1997, Nature Genetics.
[22] Francis O. Walker. Huntington's Disease. , 2007 .
[23] J. Allanson,et al. Management of Genetic Syndromes: Cassidy/Management , 2010 .
[24] R. Hennekam,et al. Elements of morphology: Introduction , 2009, American journal of medical genetics. Part A.
[25] K. Sullivan,et al. A multiinstitutional survey of the Wiskott-Aldrich syndrome. , 1994, The Journal of pediatrics.
[26] B. Alter. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. , 2007, Hematology. American Society of Hematology. Education Program.
[27] K. Sullivan,et al. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes , 2007, The Lancet.
[28] Henrik Zetterberg,et al. Alzheimer's disease , 2006, The Lancet.
[29] J. Carey,et al. Contribution of malformations and genetic disorders to mortality in a children's hospital , 2004, American journal of medical genetics. Part A.
[30] F. Collins,et al. The family history--more important than ever. , 2004, The New England journal of medicine.
[31] D. Wattendorf,et al. Family history: the three-generation pedigree. , 2005, American family physician.