Y. Sohn

发表

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Seon-Yong Jeong, L. Messiaen, Hyon J. Kim, 2013, Pediatric neurology.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

N. Niikawa, Jooyoung Lee, K. Joo, 2014, Cellular signalling.

Disease‐specific growth charts for Korean infants with Prader–Willi syndrome

Y. Sohn, D. Jin, Younghee Kwun, 2015, American journal of medical genetics. Part A.

Disease-specific Growth Charts of Marfan Syndrome Patients in Korea

Y. Sohn, S. Kim, D. Kim, 2015, Journal of Korean medical science.

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

C. Ki, Y. Sohn, S. Kim, 2011, Human Genetics.

Peritoneal Dialysis Associated Peritonitis and Empirical Antibiotics Therapy in Korean Children with Chronic Renal Failure

Y. Sohn, S. Kim, Joongbum Cho, 2008 .

Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis

Y. Sohn, S. Ji, Sooji Choi, 2020, THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY.

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.

C. Ki, Y. Sohn, H. Park, 2012, Annals of clinical and laboratory science.

Serum Obestatin/Ghrelin Ratio Is Altered in Patients after Distal Gastrectomy

Sang Eun Kim, Y. Sohn, S. Kim, 2009, Digestive Surgery.

Correlation of adiponectin receptor expression with cytokines and insulin sensitivity in growth hormone (GH)-treated children with Prader-Willi syndrome and in non-GH-treated obese children.

M. Y. Kim, Y. Sohn, S. Kim, 2010, The Journal of clinical endocrinology and metabolism.

TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions

Seon-Yong Jeong, Hyon J. Kim, J. Ko, 2014, Oncology reports.

NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Hyun-Seok Jin, Seon-Yong Jeong, Y. Sohn, 2013, International journal of oncology.

NF 1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors

Hyun-Seok Jin, Seon-Yong Jeong, Y. Sohn, 2022 .

Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial

Y. Sohn, H. Yoo, D. Jin, 2019, Orphanet Journal of Rare Diseases.

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

R. Louie, Y. Sohn, P. Harmatz, 2022, Molecular genetics and metabolism reports.

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes

Y. Sohn, Yoon-Sok Chung, Hyung-Keun Song, 2017, Medicine.

Plasma adiponectin level and sleep structures in children with Prader–Willi syndrome

S. Hong, Y. Sohn, S. Kim, 2010, Journal of sleep research.

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II

Y. Sohn, Jeehun Lee, D. Jin, 2015, Orphanet Journal of Rare Diseases.

Differential effects of insufflated, subcutaneous, and intravenous growth hormone on bone growth, cognitive function, and NMDA receptor subunit expression.

So Young Park, Y. Sohn, S. Kim, 2010, Endocrinology.

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

J. Y. Kim, S. Y. Kim, Sung Im Cho, 2015, European journal of medical genetics.

Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants

Y. Sohn, O. Noh, Mi Jin Lee, 2019, Neonatal Medicine.

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience

Y. Sohn, S. Kim, Ja-Hyun Jang, 2021, Frontiers in Genetics.

Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.

Y. Sohn, Y. Yook, E. Jeon, 2014, Molecular genetics and metabolism.

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Y. Sohn, S. Kim, Seng H. Cheng, 2016, Molecular genetics and metabolism.

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients

J. Ko, Y. Sohn, C. Shin, 2015, Journal of Human Genetics.

Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation

Y. Sohn, Seong-Joon Lee, J. Hong, 2022, Journal of Neurology.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey

Sang Hyun Park, Dong Hwan Lee, Dong-hwan Lee, 2017, Medicine.

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.

The proportion of uniparental disomy is increased in Prader–Willi syndrome due to an advanced maternal childbearing age in Korea

C. Ki, Y. Sohn, S. Kim, 2013, Journal of Human Genetics.

A polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome

Jong-Won Kim, Y. Sohn, J. Kwon, 2011, American journal of medical genetics. Part A.

Delayed Response of Amylin Levels after an Oral Glucose Challenge in Children with Prader-Willi Syndrome

Y. Sohn, S. Kim, Hae Jeong Lee, 2011, Yonsei medical journal.

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II

Y. Sohn, Myung-Whan Suh, D. Jin, 2012, American journal of medical genetics. Part A.

Review Article Updates on Paget’s Disease of Bone

Y. Sohn, Yoon-Sok Chung, Y. Choi, 2022 .

Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty

Y. Sohn, D. Jin, Y. Jung, 2012, Korean journal of pediatrics.

Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence

C. Ki, Y. Sohn, M. Kwon, 2012, Journal of Korean medical science.

One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I

Y. Sohn, J. Moon, Yewon Kim, 2020 .

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

J. Eisengart, B. Mendelsohn, Y. Sohn, 2021, Molecular genetics and metabolism reports.

Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice

Y. Sohn, S. Kim, Jeehun Lee, 2013, American journal of medical genetics. Part A.

Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study

Sang-Jin Park, Hyon J. Kim, J. Ko, 2013, Yonsei medical journal.

Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta

C. Ki, N. Matsumoto, Y. Sohn, 2015, Human mutation.

The metabolic syndrome and body composition in childhood cancer survivors

Soo Hyun Lee, H. Koo, K. Yoo, 2011, Korean journal of pediatrics.

Genetic obesity: an update with emerging therapeutic approaches

Y. Sohn, 2022, Annals of pediatric endocrinology & metabolism.

Molecular Genetics and Diagnostic Approach of Mucolipidosis II/III

Y. Sohn, 2016 .

Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

C. Ki, Y. Sohn, S. Kim, 2012, American journal of medical genetics. Part A.

Updates on Paget’s Disease of Bone

Y. Sohn, Yoon-Sok Chung, Y. Choi, 2022, Endocrinology and metabolism.

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)

Y. Sohn, S. Kim, D. Jin, 2013, Orphanet Journal of Rare Diseases.

Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.

Y. Sohn, D. Jin, S. Cho, 2015, Molecular genetics and metabolism.

An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.

Y. Sohn, D. Jin, S. Cho, 2014, Intractable & rare diseases research.

Enzyme replacement therapy improves joint motion and outcome of the 12‐min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation

Y. Sohn, Jeehun Lee, D. Jin, 2012, American journal of medical genetics. Part A.

Isolated patchy heterochromia of the scalp hair

Y. Sohn, S. Sohn, You Chan Kim, 2015, European Journal of Dermatology.

Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures

Y. Sohn, H. Yoo, 2016 .

A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease

J. Ko, Y. Sohn, H. Yoo, 2015, Journal of Korean medical science.

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

Y. Sohn, J. Kwon, D. Jin, 2011, American journal of medical genetics. Part A.

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

C. Ki, Jong-Won Kim, Young-Eun Kim, 2017, Orphanet Journal of Rare Diseases.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.

Murim Choi, J. Seong, J. Ko, 2021, Blood.

Somatic uniparental disomy with a rare EFL1 variant causes Shwachman-Diamond syndrome through dysregulating ribosomal protein synthesis

Chang Hoon Shin, Murim Choi, J. Ko, 2018, bioRxiv.

The genetics of obesity: A narrative review

Y. Sohn, Young Bae Sohn, 2022, Precision and Future Medicine.

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency

C. Ki, Y. Sohn, M. Kwon, 2012, International Journal of Pediatric Endocrinology.

A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

Hyun-Seok Jin, Seon-Yong Jeong, Y. Sohn, 2014 .

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls

Jong-Won Kim, Y. Sohn, D. Jin, 2012, Korean journal of pediatrics.

The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology

Y. Sohn, T. Okuyama, M. Kosuga, 2018, Journal of Inherited Metabolic Disease.

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

Y. Sohn, Cha Gon Lee, Sang Jin Park, 2013 .

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Y. Sohn, H. Park, D. Jin, 2011, Annals of clinical and laboratory science.

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Y. Sohn, O. Kim, S. Yim, 2015, Journal of Korean medical science.

Clinical and cytogenetic features of a Potocki–Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1

Sang-Jin Park, Y. Sohn, Cha Gon Lee, 2013, Brain and Development.

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Sang-Jin Park, Y. Sohn, Cha Gon Lee, 2012, Journal of Korean medical science.

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.

J. Ko, Y. Sohn, So Hyun Park, 2014, Annals of clinical and laboratory science.

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations

Hyun-Seok Jin, Seon-Yong Jeong, E. Jung, 2012, Journal of Human Genetics.

A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman

Seung Kyung Lee, Y. Sohn, Yoon-Sok Chung, 2013, Journal of bone metabolism.

A Case of CATCH22 Syndrome with Normal Parathyroid Function

Y. Sohn, Yoon-Sok Chung, So-Yeon An, 2012 .

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings

Y. Sohn, Jin-Sung Lee, Eun-So Lee, 2017, JAAD case reports.

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

C. Ki, Y. Sohn, H. Park, 2010, American journal of medical genetics. Part A.

Continuous renal replacement therapy in neonates weighing less than 3 kg

Y. Sohn, S. Kim, Y. Chang, 2012, Korean journal of pediatrics.

Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.

Y. Sohn, S. Kim, Jinsup Kim, 2015, Molecular pharmaceutics.

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II

Y. Sohn, Y. Chang, W. Park, 2013, Journal of Human Genetics.

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

Y. Sohn, Y. Yook, Su-jin Kim, 2012, Korean Journal of Pediatrics.

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

Y. Sohn, S. Kim, T. Y. Jeon, 2012, Korean journal of pediatrics.

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA

C. Ki, Jong-Won Kim, Y. Sohn, 2013, American journal of medical genetics. Part A.

Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Y. Sohn, S. Kim, D. Jin, 2014, Journal of Korean medical science.

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.

Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests

C. Ki, Y. Sohn, H. Park, 2013, Clinical Endocrinology.

Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease

J. Ko, Y. Sohn, H. Yoo, 2015, Journal of Korean medical science.

Chronic Dialysis in Infants and Children Under 2 Years of Age

Y. Sohn, S. Kim, D. Jin, 2007 .

The Effect of Growth Hormone and the Factors Influencing Growth in Pediatric Chronic Peritoneal Dialysis Patients.

Y. Sohn, S. Kim, D. Jin, 2008 .

Outcome Following Surgical Closure of Patent Ductus Arteriosus in Very Low Birth Weight Infants in Neonatal Intensive Care Unit

Y. Sohn, Y. Chang, W. Park, 2008, Yonsei medical journal.

Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.

Sang-Jin Park, Y. Sohn, Jang Hoon Lee, 2013, Annals of clinical and laboratory science.

Clinical and Cytogenetic Features of a Patient with Partial Trisomy 8 q and Partial Monosomy 13 q Delineated by Array Comparative Genomic Hybridization

Sang-Jin Park, Y. Sohn, Jang Hoon Lee, 2013 .

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases

Y. Sohn, I. Kang, D. Jin, 2012, American journal of medical genetics. Part A.

An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report

Seon-Yong Jeong, Y. Sohn, Yoon-Sok Chung, 2013, Journal of Korean medical science.

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.

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome

Y. Sohn, Y. Yook, D. Jin, 2014, Glycoconjugate Journal.

Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

C. Ki, Y. Sohn, S. Kim, 2013, Journal of Korean medical science.

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

C. Ki, Y. Sohn, D. Jin, 2013, Korean journal of pediatrics.

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

Y. Sohn, Jang Hoon Lee, M. Park, 2021 .

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.

Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF 1 Osteogenesis

C. Ki, Y. Sohn, S. Kim, 2013 .

Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea

Y. Sohn, H. Cheong, J. Jang, 2016 .

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review

Y. Sohn, J. Yoon, J. H. Min, 2020, The Cerebellum.

Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.

M. Seong, S. Park, J. Ko, 2019, European journal of medical genetics.

Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11

Y. Sohn, Hae-sang Lee, J. Hwang, 2018, Annals of pediatric endocrinology & metabolism.

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Y. Sohn, S. Kim, H. Park, 2011, Annals of clinical and laboratory science.

Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases

Y. Sohn, S. Yim, B. Kim, 2013 .

Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

Ji-Yun Kim, Y. Sohn, E. Choi, 2016, Journal of Korean medical science.

Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.

Jong-Won Kim, Y. Sohn, Soo-Youn Lee, 2010, Annals of clinical and laboratory science.

Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1

Su Jin Lee, Y. An, Seon-Yong Jeong, 2012 .

A Case Report for a Korean Patient with Mucopolysaccharidosis IIIA Confirmed by Biochemical and Molecular Genetic Investigation

Y. Sohn, Soo-Youn Lee, H. Park, 2015 .

Serum cystatin C for estimation of residual renal function in children on peritoneal dialysis

Y. Sohn, S. Kim, D. Jin, 2011, Pediatric Nephrology.

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia

Young Tae Lim, Y. Sohn, J. Hah, 2018, International Journal of Hematology.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

N. Niikawa, Jooyoung Lee, K. Joo, 2014, Cellular signalling.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.

Chang Hoon Shin, Murim Choi, J. Seong, 2021, Blood.

The genetics of obesity A narrative review

Y. Sohn, 2022 .