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Targeting TGF-β for treatment of osteogenesis imperfecta.
Song IW, Nagamani SC, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee B. Song IW, et al. Among authors: tran a. J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571. J Clin Invest. 2022. PMID: 35113812 Free PMC article. Clinical Trial.
RMRP mutations in cartilage-hair hypoplasia.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. Among authors: tran a. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. doi: 10.1002/ajmg.a.31331. Am J Med Genet A. 2006. PMID: 16838329
Assessment of bone mineral status in children with Marfan syndrome.
Grover M, Brunetti-Pierri N, Belmont J, Phan K, Tran A, Shypailo RJ, Ellis KJ, Lee BH. Grover M, et al. Among authors: tran a. Am J Med Genet A. 2012 Sep;158A(9):2221-4. doi: 10.1002/ajmg.a.35540. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887731 Free PMC article.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH. Marom R, et al. Among authors: tran aa. PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. eCollection 2023 Nov. PLoS Genet. 2023. PMID: 37934770 Free PMC article.
Generalized metabolic bone disease in Neurofibromatosis type I.
Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Brunetti-Pierri N, et al. Among authors: tran a. Mol Genet Metab. 2008 May;94(1):105-11. doi: 10.1016/j.ymgme.2007.12.004. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18289904 Free PMC article.
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC. Abbott M, et al. Among authors: tran a. Am J Med Genet A. 2017 Oct;173(10):2789-2794. doi: 10.1002/ajmg.a.38383. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815944 Free PMC article.
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Machol K, et al. Among authors: tran a. Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26. Am J Med Genet A. 2017. PMID: 27888646 Free PMC article.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC; Undiagnosed Diseases Network. Keehan L, et al. Among authors: tran a. Am J Med Genet A. 2022 Dec;188(12):3516-3524. doi: 10.1002/ajmg.a.62940. Epub 2022 Aug 7. Am J Med Genet A. 2022. PMID: 35934918 Free PMC article.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK; Undiagnosed Diseases Network; Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. Andrews JC, et al. Genet Med. 2023 Jun;25(6):100833. doi: 10.1016/j.gim.2023.100833. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013900
2,185 results