Lista de obras - Moon-Woo Seong - Dominio Público Uruguay

A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis ⬇️

artículo científico publicado el 13 de agosto de 2012

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

artículo científico publicado en 2017

A case of locally advanced breast cancer complicated by pulmonary tumor thrombotic microangiopathy.

artículo científico publicado en 2012

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

artículo científico publicado en 2015

A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].

artículo científico publicado en 2012

A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients

artículo científico publicado en 2014

A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A ⬇️

artículo científico publicado el 20 de abril de 2012

A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.

artículo científico publicado en 2013

Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.

artículo científico publicado en 2014

Accuracy of the Xpert® MTB/RIF assay for the diagnosis of extra-pulmonary tuberculosis in South Korea

scholarly article by Y W Kim et al published January 2015 in International Journal of Tuberculosis and Lung Disease

Analysis of the Vaginal Microbiome by Next-Generation Sequencing and Evaluation of its Performance as a Clinical Diagnostic Tool in Vaginitis

artículo científico publicado en 2016

Analytical and Clinical Validation of Six Commercial Middle East Respiratory Syndrome Coronavirus RNA Detection Kits Based on Real-Time Reverse-Transcription PCR.

scientific article published on September 2016

Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1.

artículo científico

Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient

artículo científico publicado en 2016

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.

artículo científico publicado en 2015

COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.

artículo científico

COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays

artículo científico publicado en 2020

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum

artículo científico publicado en 2015

Chimerism monitoring after allogeneic hematopoietic stem cell transplantation using quantitative real-time PCR of biallelic insertion/deletion polymorphisms.

artículo científico publicado en 2014

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

artículo científico publicado en 2014

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

artículo científico publicado en 2015

Clinical characteristics of pediatric thalassemia in Korea: a single institute experience

artículo científico publicado en 2013

Comparative Evaluation of Three Homogenization Methods for Isolating Middle East Respiratory Syndrome Coronavirus Nucleic Acids From Sputum Samples for Real-Time Reverse Transcription PCR

scientific article published on September 2016

Comparison of the MicroScan, VITEK 2, and Crystal GP with 16S rRNA sequencing and MicroSeq 500 v2.0 analysis for coagulase-negative Staphylococci

artículo científico publicado en 2008

Compassionate use of hzVSF-v13 in two patients with severe COVID-19

artículo científico publicado en 2020

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center

artículo científico publicado en 2016

Detection of HLA-DRB1 microchimerism using nested polymerase chain reaction and single-strand conformation polymorphism analysis.

artículo científico publicado en 2011

Diagnostic accuracy of Xpert® MTB/RIF on bronchoscopy specimens in patients with suspected pulmonary tuberculosis.

artículo científico publicado en 2013

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

artículo científico publicado en 2014

Disentangling of Malignancy from Benign Pheochromocytomas/Paragangliomas

artículo científico publicado en 2016

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.

artículo científico publicado en 2017

Effect of active smoking on asthma symptoms, pulmonary function, and BHR in adolescents.

artículo científico publicado en 2009

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

artículo científico publicado en 2009

Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

artículo científico publicado en 2019

Establishment of Pediatric Reference Intervals for Routine Laboratory Tests in Korean Population: A Retrospective Multicenter Analysis

artículo científico publicado en 2021

Establishment of an indocyanine green test using an automatic chemistry analyzer.

artículo científico publicado en 2006

Evaluation of Xpert(®) MTB/RIF assay: diagnosis and treatment outcomes in rifampicin-resistant tuberculosis.

artículo científico publicado en 2015

Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015.

artículo científico publicado en 2017

External Quality Assessment of MERS-CoV Molecular Diagnostics During the 2015 Korean Outbreak.

artículo científico publicado en 2016

Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic 'Detective' Identifies the 'Rogue' Hidden in the Gene

article

Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria

artículo científico publicado en 2015

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

artículo científico publicado en 2019

Genetics of Aldosterone-Producing Adenoma in Korean Patients

artículo científico publicado en 2016

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma

artículo científico publicado en 2016

Genotyping Influenza Virus by Next-Generation Deep Sequencing in Clinical Specimens.

artículo científico publicado en 2016

Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.

artículo científico publicado en 2013

Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea

scientific article published on 31 March 2020

Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea

artículo científico publicado en 2016

Hair nicotine levels in non-smoking pregnant women whose spouses smoke outside of the home.

artículo científico publicado en 2010

Hb variants in Korea: effect on HbA1c using five routine methods.

artículo científico publicado en 2017

Helicobacter pylori Seropositivity Is Associated with Gastric Cancer Regardless of Tumor Subtype in Korea

artículo científico publicado en 2010

Hereditary Fructose Intolerance Diagnosed in Adulthood

artículo científico publicado en 2020

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration.

artículo científico publicado en 2013

Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer

artículo científico publicado en 2010

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

artículo científico publicado en 2013

Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

artículo científico publicado en 2016

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

artículo científico publicado en 2014

Identification of two novel NPM1 mutations in patients with acute myeloid leukemia

artículo científico publicado en 2012

Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with

scholarly article

Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015

artículo científico publicado en 2016

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

artículo científico publicado en 2016

Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

artículo científico publicado en 2014

Low initial human papilloma viral load implicates worse prognosis in patients with uterine cervical cancer treated with radiotherapy

artículo científico publicado en 2009

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

artículo científico publicado en 2014

Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015

artículo científico publicado en 2016

Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing

artículo científico publicado en 2014

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy

artículo científico publicado en 2015

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

artículo científico publicado en 2008

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations

scientific article published on 01 April 2010

Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19).

artículo científico publicado en 2010

Monochorionic dizygotic twins with discordant sex and confined blood chimerism.

artículo científico publicado en 2014

MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy

artículo científico publicado en 2017

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy

artículo científico publicado en 2014

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

artículo científico publicado en 2015

Neonatal hair nicotine levels and fetal exposure to paternal smoking at home.

artículo científico publicado en 2008

Neonatal invasive Streptococcus gallolyticus subsp. pasteurianus infection with delayed central nervous system complications

artículo científico publicado en 2015

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome

artículo científico publicado en 2014

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases

artículo científico publicado en 2020

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

artículo científico publicado en 2015

Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing

artículo científico publicado en 2017

Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.

artículo científico

Ophthalmoplegia diagnosis.

artículo científico publicado en 2009

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.

artículo científico publicado en 2018

Performance of two commercially available BCR-ABL1 quantification assays that use an international reporting scale.

artículo científico publicado en 2015

Pharmacokinetics and Tolerance of the Phage Endolysin-Based Candidate Drug SAL200 after a Single Intravenous Administration among Healthy Volunteers.

artículo científico publicado en 2017

Phase I clinical and pharmacokinetic/pharmacogenetic study of a triplet regimen of S-1/irinotecan/oxaliplatin in patients with metastatic colorectal or gastric cancer.

artículo científico publicado en 2013

Phenotypic, immunologic, and clinical characteristics of patients with nontuberculous mycobacterial lung disease in Korea

artículo científico publicado en 2013

Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea

artículo científico publicado en 2019

Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications

artículo científico publicado en 2015

Predicting tissue HER2 status using serum HER2 levels in patients with metastatic breast cancer

artículo científico publicado en 2006

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis

artículo científico publicado en 2014

Reference intervals for circulating angiogenic cytokines

artículo científico publicado en 2008

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

artículo científico publicado en 2011

Self-reported exposure to second-hand smoke and positive urinary cotinine in pregnant nonsmokers

scientific article published on 23 June 2009

Simultaneous and sensitive measurement of nicotine and cotinine in small amounts of human hair using liquid chromatography/tandem mass spectrometry

scientific article published on 01 January 2006

SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species

artículo científico publicado en 2022

Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

artículo científico publicado en 2013

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

artículo científico publicado en 2014

The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia ⬇️

artículo científico publicado el 20 de diciembre de 2011

The Impact of Methylenetetrahydrofolate Reductase C677T Polymorphism on Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation with Methotrexate Prophylaxis

artículo científico publicado en 2016

The Xpert® MTB/RIF assay evaluation in South Korea, a country with an intermediate tuberculosis burden.

artículo científico publicado en 2012

The comparison of two smoking biomarkers in various biological samples

artículo científico publicado en 2007

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

artículo científico publicado en 2012

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

artículo científico

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

artículo científico publicado en 2021

Usefulness of a rapid real-time PCR assay in prenatal screening for group B streptococcus colonization

artículo científico publicado en 2012

Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection

artículo científico publicado en 2016

Virus Isolation from the First Patient with SARS-CoV-2 in Korea

artículo científico publicado en 2020

Lista de obras de Moon-Woo Seong

A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis ⬇️

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

A case of locally advanced breast cancer complicated by pulmonary tumor thrombotic microangiopathy.

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].

A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients

A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A ⬇️

A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.

Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.

Accuracy of the Xpert® MTB/RIF assay for the diagnosis of extra-pulmonary tuberculosis in South Korea

Analysis of the Vaginal Microbiome by Next-Generation Sequencing and Evaluation of its Performance as a Clinical Diagnostic Tool in Vaginitis

Analytical and Clinical Validation of Six Commercial Middle East Respiratory Syndrome Coronavirus RNA Detection Kits Based on Real-Time Reverse-Transcription PCR.

Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1.

Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.

COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.

COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

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

Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum

Chimerism monitoring after allogeneic hematopoietic stem cell transplantation using quantitative real-time PCR of biallelic insertion/deletion polymorphisms.

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

Clinical characteristics of pediatric thalassemia in Korea: a single institute experience

Comparative Evaluation of Three Homogenization Methods for Isolating Middle East Respiratory Syndrome Coronavirus Nucleic Acids From Sputum Samples for Real-Time Reverse Transcription PCR

Comparison of the MicroScan, VITEK 2, and Crystal GP with 16S rRNA sequencing and MicroSeq 500 v2.0 analysis for coagulase-negative Staphylococci

Compassionate use of hzVSF-v13 in two patients with severe COVID-19

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center

Detection of HLA-DRB1 microchimerism using nested polymerase chain reaction and single-strand conformation polymorphism analysis.

Diagnostic accuracy of Xpert® MTB/RIF on bronchoscopy specimens in patients with suspected pulmonary tuberculosis.

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

Disentangling of Malignancy from Benign Pheochromocytomas/Paragangliomas

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.

Effect of active smoking on asthma symptoms, pulmonary function, and BHR in adolescents.

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

Establishment of Pediatric Reference Intervals for Routine Laboratory Tests in Korean Population: A Retrospective Multicenter Analysis

Establishment of an indocyanine green test using an automatic chemistry analyzer.

Evaluation of Xpert(®) MTB/RIF assay: diagnosis and treatment outcomes in rifampicin-resistant tuberculosis.

Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015.

External Quality Assessment of MERS-CoV Molecular Diagnostics During the 2015 Korean Outbreak.

Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic 'Detective' Identifies the 'Rogue' Hidden in the Gene

Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Genetics of Aldosterone-Producing Adenoma in Korean Patients

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma

Genotyping Influenza Virus by Next-Generation Deep Sequencing in Clinical Specimens.

Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.

Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea

Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea

Hair nicotine levels in non-smoking pregnant women whose spouses smoke outside of the home.

Hb variants in Korea: effect on HbA1c using five routine methods.

Helicobacter pylori Seropositivity Is Associated with Gastric Cancer Regardless of Tumor Subtype in Korea

Hereditary Fructose Intolerance Diagnosed in Adulthood

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration.

Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

Identification of two novel NPM1 mutations in patients with acute myeloid leukemia

Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with

Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

Low initial human papilloma viral load implicates worse prognosis in patients with uterine cervical cancer treated with radiotherapy

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015

Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations

Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19).

Monochorionic dizygotic twins with discordant sex and confined blood chimerism.

MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

Neonatal hair nicotine levels and fetal exposure to paternal smoking at home.

Neonatal invasive Streptococcus gallolyticus subsp. pasteurianus infection with delayed central nervous system complications

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome