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Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2.
Urbanek M, Woodroffe A, Ewens KG, Diamanti-Kandarakis E, Legro RS, Strauss JF 3rd, Dunaif A, Spielman RS. Urbanek M, et al. Among authors: woodroffe a. J Clin Endocrinol Metab. 2005 Dec;90(12):6623-9. doi: 10.1210/jc.2005-0622. Epub 2005 Aug 9. J Clin Endocrinol Metab. 2005. PMID: 16091490
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.
Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. Ramanathan S, et al. Among authors: woodroffe a. BMC Med Genet. 2004 Apr 16;5:10. doi: 10.1186/1471-2350-5-10. BMC Med Genet. 2004. PMID: 15090072 Free PMC article.
79 results