- The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
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Cho JY, Lee TK, Kim YM, Lim HH
- KMID: 2537693
- J Genet Med.
- 2022 Dec;19(2):105-110.
- doi: 10.5734/JGM.2022.19.2.105
The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual... -
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- Efficacy of Post-Operative Medication to Prevent Recurrence of Endometrioma: Cyclic Oral Contraceptive (OC) After Gonadotropin-Releasing Hormone (GnRH) Agonist Versus Dienogest
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Choi SH, Kim SE, Lim HH, Lee DY, Choi D
- KMID: 2531039
- J Korean Med Sci.
- 2022 Jul;37(26):e207.
- doi: 10.3346/jkms.2022.37.e207
Background: There are several medical treatment options for endometrioma. Progestin, especially dienogest, is an effective drug for preventing recurrence of endometrioma after surgery. Additionally, oral contraceptive (OC) use after conservative... -
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- Association of Early Pubertal Onset in Female Rats With Inhalation of Lavender Oil
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Kim YM, Lim HH
- KMID: 2524294
- J Korean Med Sci.
- 2022 Jan;37(2):e9.
- doi: 10.3346/jkms.2022.37.e9
Background: Central precocious puberty (CPP) is caused by early activation of the hypothalamic–pituitary–gonadal axis but its major cause remains unclear. Studies have indicated an association between chronic environmental exposure to... -
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- A neonate with Say–Barber–Biesecker–Young– Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report
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Shin JH, Lim HH, Gang MH, Kim SY, Yang Ss, Chang My
- KMID: 2524743
- J Genet Med.
- 2021 Dec;18(2):147-151.
- doi: 10.5734/JGM.2021.18.2.147
The Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism,... -
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- Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia
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Gang MH, Lee J, Lee YW, Shin JH, Lim HH, Kim YM, Chang My
- KMID: 2510004
- J Genet Med.
- 2020 Dec;17(2):108-111.
- doi: 10.5734/JGM.2020.17.2.108
Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting... -
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- The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings
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Lee IK, Lim HH, Kim YM
- KMID: 2507820
- Yonsei Med J.
- 2020 Nov;61(11):981-985.
- doi: 10.3349/ymj.2020.61.11.981
3-M syndrome is a rare autosomal recessive growth disorder characterized by severe growth retardation, low birth weight, characteristic facial features, and skeletal anomalies, for which three causative genes (CUL7, OBSL1,... -
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- First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea
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Bae EY, Yi Y, Lim HH, Lee JM, Lee B, Kim SY, Kim YM
- KMID: 2507612
- J Korean Med Sci.
- 2020 Oct;35(39):e357.
- doi: 10.3346/jkms.2020.35.e357
Peroxisomal D-bifunctional protein (DBP), encoded by the HSD17B4 gene, catalyzes β-oxidation of very long chain fatty acids (VLCFAs). The deficiency of this peroxisomal enzyme leads to the accumulation of VLCFAs,... -
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- Evaluation of Automated Platelet Aggregation Test Using a Sysmex CS-5100 Analyzer
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An GD, Jeong IH, Lim HH, Woo KS, Kim KH, Kim JM, Han JY
- KMID: 2512244
- Lab Med Online.
- 2020 Apr;10(2):137-143.
- doi: 10.3343/lmo.2020.10.2.137
Background The platelet aggregation test is widely used to measure antiplatelet therapy response and to detect platelet function disorders. CS-5100 (Sysmex Co., Japan) is a recently introduced coagulation analyzer that can... -
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- Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome
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Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH
- KMID: 2501038
- Ann Pediatr Endocrinol Metab.
- 2020 Mar;25(1):52-56.
- doi: 10.6065/apem.2020.25.1.52
Prader-Willi syndrome (PWS), an imprinting disorder, results from the loss of expression of a paternal gene on chromosome 15q11-q13. Progressive obesity and its associated complications lead to increased morbidity and... -
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- A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family
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Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M
- KMID: 2470104
- J Genet Med.
- 2019 Dec;16(2):85-89.
- doi: 10.5734/JGM.2019.16.2.85
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier... -
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- Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]
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Gang MH, Lee YW, Lim HH, Chang MY
- KMID: 2468549
- Perinatology.
- 2019 Dec;30(4):254-259.
- doi: 10.14734/PN.2019.30.4.254
Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome... -
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- A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy
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Jeong IH, An GD, Lim HH, Woo KS, Kim KH, Kim JM, Lee JH, Han JY
- KMID: 2438889
- Ann Lab Med.
- 2019 Jul;39(4):403-405.
- doi: 10.3343/alm.2019.39.4.403
No abstract available. -
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- Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation
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Bae JY, Kim DY, Kwon YD, Song YH, Lim HH, Park HD, Lim JW
- KMID: 2451609
- Neonatal Med.
- 2019 May;26(2):111-116.
- doi: 10.5385/nm.2019.26.2.111
Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH... -
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- Gender affirmative care of transgender people: a single center's experience in Korea
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Lim HH, Jang YH, Choi GY, Lee JJ, Lee ES
- KMID: 2430929
- Obstet Gynecol Sci.
- 2019 Jan;62(1):46-55.
- doi: 10.5468/ogs.2019.62.1.46
OBJECTIVE: To investigate the clinical characteristics and medical management of transgender people in South Korea. METHODS: The electronic medical records of 54 transgender persons who had visited Soonchunhyang University Hospital from... -
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- Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
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Kim YM, Cheon CK, Lim HH, Yoo HW
- KMID: 2435950
- J Genet Med.
- 2018 Dec;15(2):102-106.
- doi: 10.5734/JGM.2018.15.2.102
Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also... -
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- Difference in Characteristics in the Formation of Anti-E and Anti-E/-c in Patients with the CDe Phenotype
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An GD, Kim KH, Lim HH, Jeong IH
- KMID: 2435622
- Korean J Blood Transfus.
- 2018 Dec;29(3):282-290.
- doi: 10.17945/kjbt.2018.29.3.282
BACKGROUND: Anti-E or paired anti-E/-c antibodies can develop in patients with the Rh CDe phenotype. This study examined the differences in transfusion in patients with the CDe phenotype according to... -
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- A Case of Bone Marrow Necrosis in B-Acute Lymphoblastic Leukemia with Philadelphia Chromosome at Presentation
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Jeong IH, An GD, Lim HH, Woo KS, Kim KH, Kim JM, Lee JH, Han JY
- KMID: 2421008
- Lab Med Online.
- 2018 Oct;8(4):171-176.
- doi: 10.3343/lmo.2018.8.4.171
Bone marrow necrosis (BMN) is a pathologic state which is derived from various disease entities. Most commonly, it is accompanied by hematologic malignancies such as acute leukemia. The patients with... -
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- Platelet Function Analyzer-200 P2Y Results Are Predictive of the Risk of Major Adverse Cardiac Events in Korean Patients Receiving Clopidogrel Therapy Following Acute Coronary Syndrome
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Lim HH, Li S, An GD, Woo KS, Kim KH, Kim JM, Kim MH, Han JY
- KMID: 2434729
- Ann Lab Med.
- 2018 Sep;38(5):413-419.
- doi: 10.3343/alm.2018.38.5.413
BACKGROUND: Clopidogrel is one of the most commonly used anti-platelet agents in cardiovascular diseases. We analyzed the relationship between the platelet function analyzer (PFA)-200 P2Y (INNOVANCE PFA-200 System, Siemens Healthcare,... -
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- Analysis for the Cause of Inadequate Specimens in Blood Bank: A Single Center Study
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Lim HH, Jeong GC, Kim KH
- KMID: 2435679
- Korean J Blood Transfus.
- 2018 Aug;29(2):198-200.
- doi: 10.17945/kjbt.2018.29.2.198
No abstract available. -
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- Acute Hemolytic Transfusion Reaction due to ABO-Incompatible Blood Transfusion: A Fatal Case Report and Review of the Literature
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Lim HH, Kim KH, An GD, Jeong IH, Son YK
- KMID: 2435714
- Korean J Blood Transfus.
- 2018 Apr;29(1):73-78.
- doi: 10.17945/kjbt.2018.29.1.73
A 77-year-old female patient who was suspected to have had an acute hemolytic transfusion reaction was admitted to the emergency room. She received one unit of type A red blood... -
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