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Alström syndrome is associated with short stature and reduced GH reserve.
Romano S, Maffei P, Bettini V, Milan G, Favaretto F, Gardiman M, Marshall JD, Greggio NA, Pozzan GB, Collin GB, Naggert JK, Bronson R, Vettor R. Romano S, et al. Among authors: bronson r. Clin Endocrinol (Oxf). 2013 Oct;79(4):529-36. doi: 10.1111/cen.12180. Epub 2013 Mar 26. Clin Endocrinol (Oxf). 2013. PMID: 23445176 Free PMC article.
Alms1-disrupted mice recapitulate human Alström syndrome.
Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK. Collin GB, et al. Among authors: bronson r. Hum Mol Genet. 2005 Aug 15;14(16):2323-33. doi: 10.1093/hmg/ddi235. Epub 2005 Jul 6. Hum Mol Genet. 2005. PMID: 16000322 Free PMC article.
New Alström syndrome phenotypes based on the evaluation of 182 cases.
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. Marshall JD, et al. Arch Intern Med. 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. Arch Intern Med. 2005. PMID: 15795345
A mouse model for Meckel syndrome type 3.
Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT. Cook SA, et al. J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11. J Am Soc Nephrol. 2009. PMID: 19211713 Free PMC article.
Mice with hepatocyte-specific deficiency of type 3 deiodinase have intact liver regeneration and accelerated recovery from nonthyroidal illness after toxin-induced hepatonecrosis.
Castroneves LA, Jugo RH, Maynard MA, Lee JS, Wassner AJ, Dorfman D, Bronson RT, Ukomadu C, Agoston AT, Ding L, Luongo C, Guo C, Song H, Demchev V, Lee NY, Feldman HA, Vella KR, Peake RW, Hartigan C, Kellogg MD, Desai A, Salvatore D, Dentice M, Huang SA. Castroneves LA, et al. Among authors: bronson rt. Endocrinology. 2014 Oct;155(10):4061-8. doi: 10.1210/en.2013-2028. Epub 2014 Jul 8. Endocrinology. 2014. PMID: 25004090 Free PMC article.
Mutations in a P-type ATPase gene cause axonal degeneration.
Zhu X, Libby RT, de Vries WN, Smith RS, Wright DL, Bronson RT, Seburn KL, John SW. Zhu X, et al. PLoS Genet. 2012;8(8):e1002853. doi: 10.1371/journal.pgen.1002853. Epub 2012 Aug 9. PLoS Genet. 2012. PMID: 22912588 Free PMC article.
A spontaneous mutation in contactin 1 in the mouse.
Davisson MT, Bronson RT, Tadenev AL, Motley WW, Krishnaswamy A, Seburn KL, Burgess RW. Davisson MT, et al. PLoS One. 2011;6(12):e29538. doi: 10.1371/journal.pone.0029538. Epub 2011 Dec 29. PLoS One. 2011. PMID: 22242131 Free PMC article.
834 results