C. Cheon

发表

Epidemic acute interstitial pneumonia in children occurred during the early 2006s

C. Cheon, Hyun-Seung Jin, E. Kang, 2008 .

Breakthrough Urinary Tract Infection: A Clinical Study of Experience of a Single Center

C. Cheon, S. Y. Kim, Sang In Bae, 2010 .

Clinical and molecular spectra of BRAF-associated RASopathy

J. Ko, C. Cheon, H. Yoo, 2020, Journal of Human Genetics.

Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease

C. Cheon, Hyun Jung Lee, I. Kim, 2021, Kidney research and clinical practice.

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome

J. Ko, C. Cheon, H. Yoo, 2010, Clinical endocrinology.

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

C. Cheon, H. Yoo, J. H. Park, 2017, Clinical genetics.

A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene

J. Ko, C. Cheon, H. Yoo, 2008 .

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease

C. Cheon, H. Yoo, Jeongmin Choi, 2022, Clinical and translational medicine.

Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models

C. Cheon, J. H. Lee, J. Lee, 2020, International journal of molecular sciences.

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea

C. Cheon, Jae-Ho Yoo, Su Yung Kim, 2014, Korean journal of pediatrics.

Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

C. Cheon, H. Yoo, Y. Kim, 2018, Journal of Genetic Medicine.

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Kyung-A Lee, J. Ko, C. Cheon, 2016, Annals of clinical and laboratory science.

Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency

J. Ko, C. Cheon, H. Yoo, 2010, Hormone Research in Paediatrics.

The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure

Jiyeon Han, Murim Choi, M. Seong, 2022, Orphanet Journal of Rare Diseases.

Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.

G. Im, C. Cheon, J. Lee, 2022, Medicine.

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

C. Cheon, H. Yoo, Gu-Hwan Kim, 2014, Annals of pediatric endocrinology & metabolism.

Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population

C. Cheon, Hyo-Kyoung Nam, K. Lee, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Evaluation and management of amenorrhea related to congenital sex hormonal disorders

C. Cheon, J. Yoon, 2019, Annals of pediatric endocrinology & metabolism.

Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated

C. Cheon, 2017, Journal of Korean medical science.

Practical approach to steroid 5alpha-reductase type 2 deficiency

C. Cheon, 2010, European Journal of Pediatrics.

The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation

C. Cheon, Y. Kim, Yun-Jin Lee, 2017, Korean journal of pediatrics.

Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiency

C. Cheon, Jeong Eun Lee, J. Yoon, 2022, Annals of pediatric endocrinology & metabolism.

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism

C. Cheon, H. Yoo, Gu-Hwan Kim, 2015, Clinical endocrinology.

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene

J. Ko, C. Cheon, H. Yoo, 2009, European Journal of Pediatrics.

Ocular Findings in Mucolipidosis Type II.

C. Cheon, J. Jung, S. Suh, 2017 .

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

C. Cheon, H. Yoo, D. Shin, 2017, BMC Medical Genetics.

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

C. Cheon, H. Yoo, S. Park, 2020, Annals of pediatric endocrinology & metabolism.

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease

C. Cheon, H. Yoo, B. Lee, 2022, Medicine.

Low prevalence of classical galactosemia in Korean population

C. Cheon, H. Yoo, Gu-Hwan Kim, 2011, Journal of Human Genetics.

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

C. Cheon, 2016, Annals of pediatric endocrinology & metabolism.

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Sang-Jin Park, Hyon J. Kim, J. Ko, 2011, Molecular Cytogenetics.

Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.

C. Cheon, Y. Kim, E. Yang, 2019, Journal of pediatric hematology/oncology.

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

C. Cheon, J. Yoon, Sukdong Yoo, 2021, Orphanet Journal of Rare Diseases.

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

C. Cheon, H. Yoo, Gu-Hwan Kim, 2014, Pediatric neurology.

A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

C. Cheon, H. Yoo, Y. Kim, 2014, Annals of laboratory medicine.

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability

C. Cheon, J. Choi, E. Oh, 2022, Frontiers in Neurology.

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

S. Kim, C. Cheon, Hane Lee, 2022, Molecular Medicine.

Genetic overgrowth syndrome: A single center’s experience

C. Cheon, J. Yoon, Y. Kim, 2018, Journal of Genetic Medicine.

The natural history and prognostic factors of Graves' disease in Korean children and adolescents

J. Ko, C. Cheon, H. Yoo, 2010 .

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

T. Yoon, Eunjoon Kim, C. Cheon, 2017, Scientific Reports.

A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII

J. Ko, C. Cheon, Young-Jin Lee, 2010 .

Kabuki syndrome: clinical and molecular characteristics

J. Ko, C. Cheon, 2015, Korean journal of pediatrics.

Melkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder.

Young Mi Kim, C. Cheon, S. Nam, 2014, Pediatric Neurology.

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

Y. Sohn, C. Cheon, H. Yoo, 2016, Molecular medicine.

Prader-Willi syndrome: a single center's experience in Korea

C. Cheon, Y. Kim, 2014, Korean journal of pediatrics.

Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

C. Cheon, Y. Kim, Ji-yong Kim, 2017 .

Genotype and clinical outcomes in children with congenital adrenal hyperplasia

C. Cheon, J. Yoon, 2020, Pediatrics international : official journal of the Japan Pediatric Society.

Ease of Use, Preference, and Safety of the Recombinant Human Growth Hormone Disposable Pen Compared with the Reusable Device: A Multicenter, Single-Arm, Open-Label, Switch-Over, Prospective, Phase IV Trial

C. Cheon, Hyo-Kyoung Nam, Y. Rhie, 2019, Patient preference and adherence.

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea

Semin Lee, C. Cheon, Jeong Eun Lee, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

C. Cheon, Y. Kim, Jae-Yeon Hwang, 2017, Annals of pediatric endocrinology & metabolism.

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay

C. Cheon, Doyoun Kim, S. Han, 2020, Scientific Reports.

Understanding of type 1 diabetes mellitus: what we know and where we go

C. Cheon, 2018, Korean journal of pediatrics.

Neurofibromatosis type 1: a single center's experience in Korea

C. Cheon, Min Jeong Kim, 2014, Korean journal of pediatrics.

Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease

C. Cheon, G. Hong, M. Moon, 2015, Journal of Human Genetics.

Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome

C. Cheon, Y. Kim, H. Lim, 2020, Annals of pediatric endocrinology & metabolism.

Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review

S. Kim, C. Cheon, H. Choi, 2020, Ophthalmic genetics.

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

Hyun-Seok Jin, Seon-Yong Jeong, J. Ko, 2014, Journal of Human Genetics.

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

J. Ko, C. Cheon, H. Yoo, 2015, Journal of Human Genetics.

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

J. Ko, Y. Sohn, C. Cheon, 2020, Orphanet Journal of Rare Diseases.

Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry

C. Cheon, H. Yoo, Gu-Hwan Kim, 2012 .

NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.

C. Cheon, Ji-Sun Song, Y. Lee, 2015, Pediatrics and neonatology.

A Case of Retinal Pigmentary Degeneration in PKAN

C. Cheon, J. Jung, S. Jo, 2013 .

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

T. Yoon, Eunjoon Kim, C. Cheon, 2017, Scientific Reports.

A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish

Semin Lee, C. Cheon, Kyungjae Myung, 2023, Human Genomics.

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

C. Cheon, H. Yoo, Gu-Hwan Kim, 2015, Metabolic Brain Disease.

The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis

C. Cheon, H. Yoo, Y. Lee, 2014, Gut.

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

J. Ko, C. Cheon, H. Yoo, 2010, Pediatric neurology.

A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion

C. Cheon, Jongyoun Yi, Sang-Hyun Hwang, 2011, Annals of laboratory medicine.

The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation

C. Cheon, Changwon Keum, J. Yoon, 2020, Brain and Development.

The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea

C. Cheon, Changwon Keum, J. Yoon, 2022, Annals of Pediatric Endocrinology & Metabolism.

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

C. Cheon, Y. Kim, Seong Heon Kim, 2019, Yonsei medical journal.

Clinical and Molecular Characterization of a Newly Recognized Overgrowth Syndrome: Interstitial 7q22.1-7q22.3 Microdeletion

C. Cheon, S. Y. Kim, Y. Kim, 2016 .

Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

C. Cheon, 2019, Korean journal of pediatrics.

Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetes

C. Cheon, J. Yoon, Young A Kim, 2022, Annals of pediatric endocrinology & metabolism.

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation

C. Cheon, H. Yoo, Gu-Hwan Kim, 2014, Yonsei medical journal.

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

C. Cheon, H. Yoo, J. Yoon, 2018, Korean journal of pediatrics.

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF A, SPG gene

Tae-Sung, Eunjoon Kim, C. Cheon, 2017 .

Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam

C. Cheon, H. Chueh, Jung Hyun Lee, 2015, Annals of pediatric endocrinology & metabolism.

Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency

J. Ko, C. Cheon, H. Yoo, 2010, Hormone Research in Paediatrics.