Lee BH - Search Results

1

Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.

Homan EP, Lietman C, Grafe I, Lennington J, Morello R, Napierala D, Jiang MM, Munivez EM, Dawson B, Bertin TK, Chen Y, Lua R, Lichtarge O, Hicks J, Weis MA, Eyre D, Lee BH. Homan EP, et al. Among authors: lee bh. PLoS Genet. 2014 Jan;10(1):e1004121. doi: 10.1371/journal.pgen.1004121. Epub 2014 Jan 23. PLoS Genet. 2014. PMID: 24465224 Free PMC article.

2

Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes.

Morello R, Lee B. Morello R, et al. Pediatr Res. 2002 May;51(5):551-8. doi: 10.1203/00006450-200205000-00002. Pediatr Res. 2002. PMID: 11978876 Review.

3

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

Zand DJ, Carpentieri D, Huff D, Medne L, Napierala D, Lee B, Zackai E. Zand DJ, et al. Am J Med Genet A. 2003 Apr 30;118A(3):223-8. doi: 10.1002/ajmg.a.10026. Am J Med Genet A. 2003. PMID: 12673651

4

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Sutton VR, et al. Hum Genet. 2003 Oct;113(5):447-51. doi: 10.1007/s00439-003-0981-x. Epub 2003 Aug 21. Hum Genet. 2003. PMID: 12938037

5

Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.

Zheng Q, Zhou G, Morello R, Chen Y, Garcia-Rojas X, Lee B. Zheng Q, et al. J Cell Biol. 2003 Sep 1;162(5):833-42. doi: 10.1083/jcb.200211089. J Cell Biol. 2003. PMID: 12952936 Free PMC article.

6

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Mendoza-Londono R, et al. Am J Hum Genet. 2005 Jul;77(1):161-8. doi: 10.1086/431654. Epub 2005 May 27. Am J Hum Genet. 2005. PMID: 15924278 Free PMC article.

7

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. 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.

8

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B. Napierala D, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):257-68. doi: 10.1016/j.ymgme.2005.07.012. Mol Genet Metab. 2005. PMID: 16140555

9

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Hermanns P, et al. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. doi: 10.1093/hmg/ddi403. Epub 2005 Oct 27. Hum Mol Genet. 2005. PMID: 16254002

10

RMRP mutations in cartilage-hair hypoplasia.

Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. 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

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