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The genetic architecture of aniridia and Gillespie syndrome.
Hall HN, Williamson KA, FitzPatrick DR. Hall HN, et al. Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22. Hum Genet. 2019. PMID: 30242502 Free PMC article. Review.
Gillespie syndrome-a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability-is phenotypically and genotypically distinct from classical aniridia. ...WAGR syndrome (Wilms tumour, aniridia
Gillespie syndrome-a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability-is …
Common genetic and epigenetic syndromes.
Adams DJ, Clark DA. Adams DJ, et al. Pediatr Clin North Am. 2015 Apr;62(2):411-26. doi: 10.1016/j.pcl.2014.11.005. Epub 2015 Jan 22. Pediatr Clin North Am. 2015. PMID: 25836705 Review.
Cytogenetic anomalies should be considered in individuals with multiple congenital anomalies. DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely identification of cytogenetic anomal
Cytogenetic anomalies should be considered in individuals with multiple congenital anomalies. DNA methylation analysis is the …
Genetic and hereditary aspects of childhood obesity.
Farooqi IS. Farooqi IS. Best Pract Res Clin Endocrinol Metab. 2005 Sep;19(3):359-74. doi: 10.1016/j.beem.2005.04.004. Best Pract Res Clin Endocrinol Metab. 2005. PMID: 16150380 Review.
Genetic factors are involved in the regulation of body weight and in determining individual responses to environmental factors such as diet and exercise. The identification and characterization of monogenic obesity syndromes have led to an improved understanding of …
Genetic factors are involved in the regulation of body weight and in determining individual responses to environmental factors such as diet …
[Contiguous gene syndromes].
Kishino T, Niikawa N. Kishino T, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):118-22. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057165 Review. Japanese. No abstract available.