Search Results - "조성윤"
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Prader-Willi syndrome: an update on obesity and endocrine problems
Published in Annals of pediatric endocrinology & metabolism (01-12-2021)“…Prader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is…”
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Tandem High-Dose Chemotherapy Increases the Risk of Secondary Malignant Neoplasm in Pediatric Solid Tumors
Published in Cancer research and treatment (01-04-2024)“…This study aimed to investigate the incidence and risk factors for secondary malignant neoplasms (SMN) in pediatric solid tumors, focusing on the effects of…”
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3
Design and Synthesis of 5‐Aryl‐substituted Phenylpyrimidine‐2,4‐diamine Derivatives as Novel Mer and Tyro3 Kinase Inhibitors
Published in Bulletin of the Korean Chemical Society (01-02-2021)“…5‐Aryl‐substituted (piperdin‐4‐yl)pyrimidine‐2,4‐diamine derivatives were synthesized and their inhibitory activities were evaluated against TAM kinase (Tyro3,…”
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4
Comparison of treatment effects between four premolar extraction and total arch distalization using the modified C-palatal plate
Published in Korean journal of orthodontics (2012) (01-07-2018)“…The purpose of this study was to compare the skeletal, dental, and soft-tissue treatment effects of nonextraction therapy using the modified C-palatal plate…”
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5
Design and Synthesis of Novel 2,4‐Diamino‐5‐pyrazol‐4‐yl Pyrimidine Derivatives as Selective Tyro3 Kinase Inhibitors
Published in Bulletin of the Korean Chemical Society (01-09-2018)“…KCI Citation Count: 6…”
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6
Giant complex odontoma in the posterior mandible: A case report and literature review
Published in Imaging science in dentistry (01-12-2018)“…Odontomas are considered a type of odontogenic hamartoma, and are generally reported not to exceed 3 cm in diameter. Some authors have referred to odontomas…”
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7
Etiological trends in male central precocious puberty
Published in Annals of pediatric endocrinology & metabolism (01-06-2018)“…In the present study, the etiological trends in male central precocious puberty (CPP) were examined, and annual distribution was evaluated. Seventy-one male…”
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Design and Synthesis of Novel 2,4‐Diamino‐5‐pyrazol‐4‐yl Pyrimidine Derivatives as Selective Tyro3 Kinase Inhibitors
Published in Bulletin of the Korean Chemical Society (01-11-2018)“…KCI Citation Count: 0…”
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9
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Published in Annals of pediatric endocrinology & metabolism (01-12-2018)“…X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a…”
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10
Design and Synthesis of Novel 3‐(2‐Aminopyridin‐3‐yl)‐1,2,4‐Triazolo[4,3‐b]Pyridazine Derivatives as a Reversible Bruton's Tyrosine Kinase Inhibitors
Published in Bulletin of the Korean Chemical Society (01-07-2018)“…Bruton's tyrosine kinase, a non‐receptor TEC family kinase, plays key role in B cell differentiation, proliferation, and survival. B cell receptor regulates…”
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11
Discovery of substituted pyrazol-4-yl pyridazinone derivatives as novel c-Met kinase inhibitors
Published in Archives of pharmacal research (01-04-2016)“…A series of pyridazin-3-one substituted with morpholino-pyrimidine derivatives was synthesized and evaluated as tyrosine kinase inhibitors against c-Met…”
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12
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
Published in Annals of laboratory medicine (01-01-2017)“…Dear Editor, Acromicric dysplasia (AD, MIM 102370) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal…”
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13
Development and Validation of Pediatric-Youth Hyperphagia Assessment for Prader-Willi Syndrome
Published in Epidemiology and health (2022)“…Hyperphagia is a highly stressful, life-threatening feature of Prader-Willi Syndrome (PWS). It is important to assess this complex behavior accurately over…”
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14
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
Published in Clinical and experimental pediatrics (01-08-2013)“…Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability,and multiple congenital abnormalities. KS is…”
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15
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea
Published in Journal of Korean medical science (01-07-2015)“…Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary…”
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16
Design and Synthesis of Novel Pyrazolo[3,4‐d]pyrimidin‐1‐yl piperidine Derivatives as Bruton's Tyrosine Kinase Inhibitors
Published in Bulletin of the Korean Chemical Society (01-02-2017)“…KCI Citation Count: 6…”
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17
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1
Published in Journal of Korean medical science (01-07-2013)“…Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly…”
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18
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
Published in Annals of pediatric endocrinology & metabolism (01-03-2020)“…Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results…”
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An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
Published in Annals of pediatric endocrinology & metabolism (01-09-2017)“…Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature,…”
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20
Novel 2,4-dianilino-5-fluoropyrimidine derivatives possessing ALK inhibitory activities
Published in Archives of pharmacal research (01-07-2014)“…A new series of 2,4-dianilino-5-fluoropyrimidine derivatives were designed and synthesized and their anaplastic lymphoma kinase (ALK) inhibitory activities…”
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