Lee BH - Search Results

1

Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.

Go A, Lee BH, Choi JH, Jeong J, Jung E, Lee BS. Go A, et al. Among authors: lee bh, lee bs. Front Endocrinol (Lausanne). 2023 Sep 6;14:1242387. doi: 10.3389/fendo.2023.1242387. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37745698 Free PMC article.

2

Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia.

Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW. Lee BH, et al. J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):682-5. doi: 10.1097/MPG.0b013e3181d67fbf. J Pediatr Gastroenterol Nutr. 2010. PMID: 20400906 No abstract available.

3

Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.

Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ, Yoo HW. Choi JH, et al. Among authors: lee bh, lee sm. J Clin Endocrinol Metab. 2011 Jan;96(1):E130-4. doi: 10.1210/jc.2010-1789. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962017

4

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.

Jin HY, Choi JH, Lee BH, Kim GH, Kim HK, Yoo HW. Jin HY, et al. Among authors: lee bh. Eur J Pediatr. 2011 Apr;170(4):535-8. doi: 10.1007/s00431-010-1342-0. Epub 2010 Nov 6. Eur J Pediatr. 2011. PMID: 21057961

5

Low prevalence of classical galactosemia in Korean population.

Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, Kim GH, Choi JH, Yoo HW. Lee BH, et al. J Hum Genet. 2011 Jan;56(1):94-6. doi: 10.1038/jhg.2010.152. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150919

6

Argininemia presenting with progressive spastic diplegia.

Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW. Lee BH, et al. Pediatr Neurol. 2011 Mar;44(3):218-20. doi: 10.1016/j.pediatrneurol.2010.11.003. Pediatr Neurol. 2011. PMID: 21310339

7

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, Lee JH, Yu J, Yoo JH, Ko CW, Lim HH, Chung HR, Yoo HW. Jin HY, et al. Among authors: lee bh, lee jh. Clin Endocrinol (Oxf). 2011 Aug;75(2):207-13. doi: 10.1111/j.1365-2265.2011.04026.x. Clin Endocrinol (Oxf). 2011. PMID: 21521295

8

Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.

Choi JH, Park JY, Kim GH, Jin HY, Lee BH, Kim JH, Shin CH, Yang SW, Yoo HW. Choi JH, et al. Among authors: lee bh. Metabolism. 2011 Nov;60(11):1545-50. doi: 10.1016/j.metabol.2011.03.023. Epub 2011 May 31. Metabolism. 2011. PMID: 21632081

9

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW. Lee BH, et al. J Pediatr. 2011 Dec;159(6):1029-35. doi: 10.1016/j.jpeds.2011.05.024. Epub 2011 Jul 23. J Pediatr. 2011. PMID: 21784453

10

High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.

Kim JM, Choi JH, Lee JH, Kim GH, Lee BH, Kim HS, Shin JH, Shin CH, Kim CJ, Yu J, Lee DY, Cho WK, Suh BK, Lee JE, Chung HR, Yoo HW. Kim JM, et al. Among authors: lee dy, lee bh, lee je, lee jh. Eur J Endocrinol. 2011 Nov;165(5):771-8. doi: 10.1530/EJE-11-0597. Epub 2011 Aug 16. Eur J Endocrinol. 2011. PMID: 21846663

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