데이터가 없습니다.

1. Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2 [ EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES ] - 2024.01.25
2. Applications of genomic research in pediatric endocrine diseases [ Clinical and Experimental Pediatrics ] - 2023.12.01
3. Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents [ EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES ] - 2023.10.01
4. Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes [ Annals of Pediatric Endocrinology & Metabolism ] - 2023.09.25
5. Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome [ Annals of Pediatric Endocrinology & Metabolism ] - 2023.06.01
6. Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism [ ENDOCRINE CONNECTIONS ] - 2023.04.20
7. Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma [ Annals of Pediatric Endocrinology & Metabolism ] - 2022.06.30
8. Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Deficiency [ Endocrinology and Metabolism ] - 2022.04.27
9. Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta [ Annals of Pediatric Endocrinology & Metabolism ] - 2022.04.04
10. Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings [ Endocrine connections ] - 2022.02.11
11. Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency [ EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY DIABETES ] - 2021.06.01
12. Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors [ FRONTIERS IN ENDOCRINOLOGY ] - 2021.03.17
13. Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center [ BMC PEDIATRICS ] - 2021.03.04
14. Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease [ BMC PEDIATRICS ] - 2021.01.14
15. Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects [ Sexual Development ] - 2020.10.01
16. Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption [ Annals of Pediatirc Endocrinology & Metabolism ] - 2020.06.30
17. Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis [ Annals of Pediatirc Endocrinology & Metabolism ] - 2019.12.27
18. Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants [ METABOLIC BRAIN DISEASE ] - 2019.10.01
19. Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism [ EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES ] - 2019.09.01
20. Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes. [ Hormone Research in Paediatrics ] - 2018.11.29
21. Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors [ JOURNAL OF NEURO-ONCOLOGY ] - 2018.05.01
22. Clinicla characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey [ MEDICINE ] - 2017.07.01
23. Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia [ MOLECULAR MEDICINE ] - 2017.05.02
24. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea [ YONSEI MEDICAL JOURNAL ] - 2017.05.01
25. Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development [ MOLECULAR AND CELLULAR ENDOCRINOLOGY ] - 2017.03.15
26. Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care [ Journal of Korean Pediatrics(대한소아과학회지) ] - 2017.02.15
27. Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ Annals of Pediatric Endocrinology & Metabolism ] - 2016.03.30
28. Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism [ CLINICAL ENDOCRINOLOGY ] - 2015.12.21
29. Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency [ JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM ] - 2015.10.01
30. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency [ JOURNAL OF HUMAN GENETICS ] - 2015.09.30
31. Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome [ Hormone Research in Paediatrics ] - 2015.07.08
32. Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency [ Hormone Research in Paediatrics ] - 2015.06.27
33. A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin(R) in Patients with Type 1 Gaucher Disease [ JOURNAL OF KOREAN MEDICAL SCIENCE ] - 2015.04.01
34. Moyamoya Syndrome in a Patient With Noonan-like Syndrome With Loose Anagen Hair [ PEDIATRIC NEUROLOGY ] - 2015.03.31
35. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency [ PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA ] - 2014.12.16
36. Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency [ 대한소아내분비학회지 ] - 2014.03.31
37. Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy [ PROTEOMICS ] - 2013.04.01
38. Control of puberty: genetics, endocrinology, and environment [ Current Opinion in Endocrinology Diabetes and Obesity ] - 2013.02.01
39. Differential Diagnosis of Disorders of Sex Development (DSD) by Molecular Genetic Analyses [ 대한소아내분비학회지 ] - 2012.09.30
40. Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation [ HORMONE RESEARCH ] - 2012.07.03
41. Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency [ EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES ] - 2012.01.25
42. Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita [ METABOLISM-CLINICAL AND EXPERIMENTAL ] - 2011.11.01
43. 소아기에 발병한 성장호르몬결핍증 환자의 성인기에서의 재평가 및 성장호르몬 치료: 청소년기에서 성인기로의 이행기의 관리 [ 대한소아내분비학회지 ] - 2011.04.30
44. Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia [ Korean Journal of Pediatrics ] - 2011.03.15
45. 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 [ JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM ] - 2011.01.30
46. 성인터너증후군 환자에서 당뇨병과 고혈압 발생의 예측 인자에 관한 연구 [ 대한소아내분비학회지 ] - 2010.12.30
47. 유전성내분비질환의 분자유전학적 진단 [ 대한의학유전학회 ] - 2010.06.30
48. 선천성갑상샘저하증의 분자유전학적 측면 [ 대한소아내분비학회 ] - 2009.12.31
49. Hepatic glycogenosis in a patient with poorly controlled type 1 diabetes mellitus [ Korean Journal of Pediatrics ] - 2009.11.15

1. 유전적 이질성을 보이는 희귀내분비질환의 분자유전학적 진단 및 발병기전의 규명 - 2023.03.01 ~ 2024.02.29
2. 임신주수에 비해 작게 태어난 저신장 소아, 터너 증후군, 누난 증후군, 또는 특발성 저신장증이 있는 저신장 소아에서 바스켓 시험 설계로 소마파시탄 주1회 투여의 유효성 및 안전성을 평가하는 임상시험 - 2022.12.12 ~ 2027.07.15
3. 중추성 사춘기조발증 환자에게 GPP001 1개월 제형을 투여하였을 때 효능과 안전성 및 약동학적 특성을 평가하기 위한 제3상 단일군, 공개, 다기관, 전향적 임상시험 - 2022.07.25 ~ 2024.02.28
4. 임신주수에 비해 작게 태어난 저신장 소아, 터너 증후군, 누난 증후군, 또는 특발성 저신장증이 있는 저신장 소아에서 바스켓 시험 설계로 소마파시탄 주 1 회 투여의 유효성 및 안전성을 노디트로핀(R) 매일 투여와 비교하고 소마파시탄의 장기 안전성을 평가하는 임상시험 - 2022.06.16 ~ 2027.02.04
5. 유전적 이질성을 보이는 희귀내분비질환의 분자유전학적 진단 및 발병기전의 규명 - 2022.03.01 ~ 2023.02.28
6. 저신장 환아를 대상으로 그로트로핀 RII의 장기 안전성 및 유효성을 평가하기 위한 공개, 다기관, 비중재, 전 및 후향적 관찰연구 - 2021.06.02 ~ 2030.12.31
7. 유전적 이질성을 보이는 희귀내분비질환의 분자유전학적 진단 및 발병기전의 규명 - 2021.06.01 ~ 2022.02.28
8. 사춘기 및 성발달이상질환의 분자유전학적 진단 및 새로운 원인 유전자의 규명 - 2020.03.01 ~ 2020.05.31
9. 사춘기 및 성발달이상질환의 분자유전학적 진단 및 새로운 원인 유전자의 규명 - 2019.03.01 ~ 2020.02.29
10. 사춘기 및 성발달이상질환의 분자유전학적 진단 및 새로운 원인 유전자의 규명 - 2019.01.01 ~ 2019.12.31
11. 소아 및 청소년기의 당뇨병 환자에서 단일유전자성 당뇨병의 분자유전학적 진단 및 유전자 돌연변이 분석 - 2018.03.08 ~ 2019.01.31
12. 사춘기 및 성발달이상질환의 분자유전학적 진단 및 새로운 원인 유전자의 규명 - 2018.03.01 ~ 2019.02.28
13. 소아 및 청소년기의 당뇨병 환자에서 단일유전자성 당뇨병의 분자유전학적 진단 및 유전자 돌연변이 분석 (어린이) - 2018.01.01 ~ 2018.12.31
14. 사춘기 및 성발달이상질환의 분자유전학적 진단 및 새로운 원인 유전자의 규명 - 2017.06.01 ~ 2018.02.28
15. 단독성선자극호르몬분비호르몬결핍증의 진단을 위한 표적화 엑솜시퀀싱의 적용 - 2017.01.01 ~ 2017.12.31
16. 성분화 이상질환의 진단을 위한 표적화 엑솜 시퀀싱 - 2016.01.01 ~ 2016.06.30
17. 성분화 이상질환의 진단을 위한 표적화 엑솜 시퀀싱 - 2015.08.10 ~ 2016.06.30
18. 성분화 이상질환의 진단을 위한 표적화 엑솜 시퀀싱 - 2015.07.01 ~ 2015.12.31
19. 선천성지질성부신증식증 환자에서 StAR 유전자 p.Q258X 돌연변이의 창시자 효과(founder effect)의 규명 - 2015.06.18 ~ 2017.12.31

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