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Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Dauber A, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. doi: 10.1210/jc.2012-2150. Epub 2012 Aug 29. J Clin Endocrinol Metab. 2012. PMID: 22933543 Free PMC article.
Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.
Gajdos ZK, Butler JL, Henderson KD, He C, Supelak PJ, Egyud M, Price A, Reich D, Clayton PE, Le Marchand L, Hunter DJ, Henderson BE, Palmert MR, Hirschhorn JN. Gajdos ZK, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2008 Nov;93(11):4290-8. doi: 10.1210/jc.2008-0981. Epub 2008 Aug 26. J Clin Endocrinol Metab. 2008. PMID: 18728166 Free PMC article.
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.
Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Dauber A, et al. Among authors: hirschhorn jn. Am J Hum Genet. 2011 Dec 9;89(6):751-9. doi: 10.1016/j.ajhg.2011.10.014. Epub 2011 Nov 23. Am J Hum Genet. 2011. PMID: 22118881 Free PMC article.
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.
Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, Boehnke M, Perola M, Palotie A, Salomaa V, Hveem K, Frayling TM, Hirschhorn JN, Weedon MN. Chan Y, et al. Among authors: hirschhorn jn. PLoS Genet. 2011 Dec;7(12):e1002439. doi: 10.1371/journal.pgen.1002439. Epub 2011 Dec 29. PLoS Genet. 2011. PMID: 22242009 Free PMC article.
374 results