Yang A - Search Results

1

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Cho EK, Kim J, Yang A, Cho SY, Jin DK. Cho EK, et al. Among authors: yang a. Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):129-132. doi: 10.6065/apem.2017.22.2.129. Epub 2017 Jun 28. Ann Pediatr Endocrinol Metab. 2017. PMID: 28690993 Free PMC article.

2

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.

Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK. Yang A, et al. Ann Pediatr Endocrinol Metab. 2015 Mar;20(1):40-5. doi: 10.6065/apem.2015.20.1.40. Epub 2015 Mar 31. Ann Pediatr Endocrinol Metab. 2015. PMID: 25883926 Free PMC article.

3

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.

Cho EK, Kim J, Yang A, Ki CS, Lee JE, Cho SY, Jin DK. Cho EK, et al. Among authors: yang a. Orphanet J Rare Dis. 2016 Aug 9;11(1):113. doi: 10.1186/s13023-016-0496-x. Orphanet J Rare Dis. 2016. PMID: 27506760 Free PMC article.

4

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.

Yang A, Cho SY, Jang JH, Kim J, Kim SZ, Lee BH, Yoo HW, Jin DK. Yang A, et al. Clin Chim Acta. 2017 Aug;471:191-195. doi: 10.1016/j.cca.2017.06.010. Epub 2017 Jun 13. Clin Chim Acta. 2017. PMID: 28619360

5

Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.

Yang A, Kim J, Cho SY, Jin DK. Yang A, et al. Orphanet J Rare Dis. 2017 Aug 30;12(1):146. doi: 10.1186/s13023-017-0702-5. Orphanet J Rare Dis. 2017. PMID: 28854950 Free PMC article.

6

An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.

Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK. Kim J, et al. Among authors: yang a. Ann Pediatr Endocrinol Metab. 2017 Sep;22(3):203-207. doi: 10.6065/apem.2017.22.3.203. Epub 2017 Sep 28. Ann Pediatr Endocrinol Metab. 2017. PMID: 29025208 Free PMC article.

7

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK. Yang A, et al. BMC Med Genet. 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. BMC Med Genet. 2017. PMID: 29073906 Free PMC article.

8

Etiological trends in male central precocious puberty.

Lee J, Kim J, Yang A, Cho SY, Jin DK. Lee J, et al. Among authors: yang a. Ann Pediatr Endocrinol Metab. 2018 Jun;23(2):75-80. doi: 10.6065/apem.2018.23.2.75. Epub 2018 Jun 20. Ann Pediatr Endocrinol Metab. 2018. PMID: 29969878 Free PMC article.

9

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.

Jeong HI, Yang A, Kim J, Jang JH, Cho SY, Jin DK. Jeong HI, et al. Among authors: yang a. Ann Clin Lab Sci. 2018 Jul;48(4):522-527. Ann Clin Lab Sci. 2018. PMID: 30143497 Review.

10

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Kim MS, Song A, Im M, Huh J, Kang IS, Song J, Yang A, Kim J, Kwon EK, Choi EJ, Han SJ, Park HD, Cho SY, Jin DK. Kim MS, et al. Among authors: yang a. Korean J Pediatr. 2019 Jun;62(6):224-234. doi: 10.3345/kjp.2018.06968. Epub 2018 Oct 4. Korean J Pediatr. 2019. PMID: 30360039 Free PMC article.

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