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The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.
Al-Jallad H, Palomo T, Roughley P, Glorieux FH, McKee MD, Moffatt P, Rauch F. Al-Jallad H, et al. Bone. 2015 Jul;76:115-20. doi: 10.1016/j.bone.2015.04.008. Epub 2015 Apr 11. Bone. 2015. PMID: 25868797
Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.
Al-Jallad H, Palomo T, Moffatt P, Roughley P, Glorieux FH, Rauch F. Al-Jallad H, et al. J Clin Endocrinol Metab. 2014 Nov;99(11):E2446-50. doi: 10.1210/jc.2014-2505. Epub 2014 Aug 15. J Clin Endocrinol Metab. 2014. PMID: 25127091
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.
Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH. Rauch F, et al. J Med Genet. 2013 Jan;50(1):21-4. doi: 10.1136/jmedgenet-2012-101307. J Med Genet. 2013. PMID: 23240094
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F. Tucker T, et al. Am J Med Genet A. 2012 Jun;158A(6):1422-6. doi: 10.1002/ajmg.a.35319. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528245
Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.
Rauch F, Lalic L, Roughley P, Glorieux FH. Rauch F, et al. Eur J Hum Genet. 2010 Jun;18(6):642-7. doi: 10.1038/ejhg.2009.242. Epub 2010 Jan 20. Eur J Hum Genet. 2010. PMID: 20087402 Free PMC article.
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