Kim OH - Search Results

1

Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.

Sohn YB, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, Kim JY, Park HD, Kim OH, Jin DK. Sohn YB, et al. Among authors: kim jy, kim oh. Ann Clin Lab Sci. 2012 Summer;42(3):307-12. Ann Clin Lab Sci. 2012. PMID: 22964620 Free article.

2

A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.

Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH. Jeong SY, et al. Among authors: kim hj, kim by, kim oh. J Hum Genet. 2010 Nov;55(11):764-6. doi: 10.1038/jhg.2010.102. Epub 2010 Aug 19. J Hum Genet. 2010. PMID: 20720557

3

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semënov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK. Kim SJ, et al. Among authors: kim ch, kim oh. Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9. Hum Genet. 2011. PMID: 21221996

4

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW. Seo SH, et al. Among authors: kim sh, kim oh. Ann Lab Med. 2013 Mar;33(2):150-2. doi: 10.3343/alm.2013.33.2.150. Epub 2013 Feb 21. Ann Lab Med. 2013. PMID: 23483675 Free PMC article.

5

Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

Kim OH, Jin DK, Kosaki K, Kim JW, Cho SY, Yoo WJ, Choi IH, Nishimura G, Ikegawa S, Cho TJ. Kim OH, et al. Among authors: kim jw. Am J Med Genet A. 2013 Aug;161A(8):1972-9. doi: 10.1002/ajmg.a.36024. Epub 2013 Jun 26. Am J Med Genet A. 2013. PMID: 23804581

6

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Hoover-Fong J, et al. Among authors: kim sj, kim oh. Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Am J Hum Genet. 2014. PMID: 24387990 Free PMC article. No abstract available.

7

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK. Lachman RS, et al. Among authors: kim oh. Skeletal Radiol. 2014 Mar;43(3):359-69. doi: 10.1007/s00256-013-1797-y. Epub 2014 Jan 4. Skeletal Radiol. 2014. PMID: 24389823 Free PMC article.

8

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T. Mitsui T, et al. Among authors: kim oh. Am J Med Genet A. 2014 Oct;164A(10):2529-34. doi: 10.1002/ajmg.a.36669. Epub 2014 Jul 10. Am J Med Genet A. 2014. PMID: 25044890

9

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura K, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura K, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK. Kaname T, et al. Among authors: kim hw, kim ch, kim d, kim oh. Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24. Cell Signal. 2014. PMID: 25064455 Clinical Trial.

10

Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK. Cho SY, et al. Among authors: kim sj, kim oh. Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731. Hum Mutat. 2015. PMID: 25402547

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