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164,889 results

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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: chen s, chen y. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Zheng Q, et al. Among authors: chen y. Am J Hum Genet. 2005 Aug;77(2):305-12. doi: 10.1086/432261. Epub 2005 Jun 10. Am J Hum Genet. 2005. PMID: 15952089 Free PMC article.
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. Morello R, et al. Among authors: chen y. Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039. Cell. 2006. PMID: 17055431 Free article.
Dimorphic effects of Notch signaling in bone homeostasis.
Engin F, Yao Z, Yang T, Zhou G, Bertin T, Jiang MM, Chen Y, Wang L, Zheng H, Sutton RE, Boyce BF, Lee B. Engin F, et al. Among authors: chen y. Nat Med. 2008 Mar;14(3):299-305. doi: 10.1038/nm1712. Epub 2008 Feb 24. Nat Med. 2008. PMID: 18297084 Free PMC article.
Brachy-syndactyly caused by loss of Sfrp2 function.
Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Morello R, et al. Among authors: chen y. J Cell Physiol. 2008 Oct;217(1):127-37. doi: 10.1002/jcp.21483. J Cell Physiol. 2008. PMID: 18446812 Free PMC article.
E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta.
Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL, Lee B. Yang T, et al. Among authors: chen y. J Clin Invest. 2010 Jul;120(7):2474-85. doi: 10.1172/JCI42150. Epub 2010 Jun 7. J Clin Invest. 2010. PMID: 20530870 Free PMC article.
miRNA-34c regulates Notch signaling during bone development.
Bae Y, Yang T, Zeng HC, Campeau PM, Chen Y, Bertin T, Dawson BC, Munivez E, Tao J, Lee BH. Bae Y, et al. Among authors: chen y. Hum Mol Genet. 2012 Jul 1;21(13):2991-3000. doi: 10.1093/hmg/dds129. Epub 2012 Apr 12. Hum Mol Genet. 2012. PMID: 22498974 Free PMC article.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nagamani SC, et al. Among authors: chen y. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541557 Free PMC article.
164,889 results
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