Search Result: 1 Case Report | 2023-04-01 The First Cases of OPHN1 Exons 1 and 2 Deletion in Two X-linked Intellectual Developmental Disorder Patients in Korea Kyoung Bo Kim, M.D.1, Soyoung Lee, M.D.2, Do-Hoon Kim, M.D. 1 https://doi.org/10.47429/lmo.2023.13.2.120 Lab Med Online 2023; 13(2): 120-123 Keywords: OPHN1, Oligophrenin-1, X-linked intellectual disability, Intellectual disability, Microarray Full Text PDF 1 Search Word in the Search Title Author Keywords Abstract AND OR Author Keywords Abstract Title AND OR Keywords Abstract Title Author AND OR Abstract Title Author Keywords Search Clear Year - Select- 2023202220212020201920182017201620152014201320122011 to - Select - 2023202220212020201920182017201620152014201320122011 Article Type - Article Type - TranslationOriginal ArticleCase ReportShort CommunicationEditorialCase DiscussionPhoto EssayReview ArticleEulogyPerspectiveGuidelineBrief ReportLetterBrief CommunicationErratumLetter to the Editor Next-generation sequencing 16S rRNA Guideline DNA copy number variations Congenital abnormalities Gene rearrangement Microarray analysis Prenatal diagnosis Antibodies Hereditary cancer Flow cytometry Microarray mutation Verification Questionnaire survey Monoclonal protein Bacteremia COVID-19 ABO genotyping Liquid biopsy Variant of uncertain significance Genetic counseling SARS-CoV-2 Pharmacogenetics Genotype Quality control Immunoassay Method comparison Multiple myeloma Leukocytosis Auto-anti-M antibody Pretransfusion test Hematology analyzer Mindray BC-6200 Antigen test Paracoccus yeei Immunocompetence Bronchiectasis Schizophyllum commune Peritoneal dialysis Peritonitis Leukapheresis Performance evaluation Plasma cell leukemia Neuroblastoma diagnostic medical device In vitro Questionnaire survey Practice guideline Medical device legislation Reagent kits Circulating tumor DNA Pharmacogenomic variants Infectious diseases Primary Immunodeficiency Orientation Tube Enhancer of zeste homolog 2 NUCKS1 Body fluid cellular analysis Congenital Disorder Body fluid Common variable immunodeficiency Severe combined immunodeficiency Primary immunodeficiency disease Weaver syndrome Urinalysis ABO antibodies Carboxy-terminal telopeptide of type I collagen Osteocalcin Bidirectional ABO mismatch Passenger lymphocyte syndrome Inherited platelet disorder Bleeding time Kidney transplantation Vancomycin Parathyroid hormone Simulation Unit size Unit Trough concentration Therapeutic drug monitoring 25(OH) vitamin D Clinical chemistry Quantitative test Platelet function tests Platelet function analyzer Albumin-to-protein ratio Enzymatic assays Cholesterol Albumin-creatinine ratio Triglycerides Autoanalyzer RAB29 Aggressive NK cell leukemia Analytic interference FLT3 Digital image analyzer PFA-200 PFA-100 White blood cell differential count UIMD PBIA Ascorbate oxidase Ascorbic acid Throughput Area under the curve Reversion Nontuberculous mycobacteria Mycobacterium tuberculosis Sample preparation Liquid chromatography/tandem mass spectrometry Direct PCR detection Acid-fast bacillus IL-6 Cytokine Severity Immunosuppressive drug Automated liquid handling Liver fibrosis Prostate-specific antigen cobas e801 Bias estimation Stiffness measurements M2BPGi Support vector machine Random forest Machine learning TNF-α 25-hydroxyvitamin D Viral infections Central nervous system infection Multiplex PCR Human herpesvirus 6 Coronavirus disease 2019 Nonpharmaceutical intervention GLIS2 CBFA2T3 Acute megakaryoblastic leukemia Corrected count increment (CCI) Platelet transfusion evaluation Obesity Prevalence Vitamin D deficiency Dyslipidemia Hypertension Platelet transfusion appropriateness Platelet product transfusion Fatty liver ADVIA Centaur XP Lymphoma grade Weak B Glycosyltransferase Cis-AB ABO discrepancy ABO discrepancy ABO subgroups STIL-TAL1 1p33 deletion T-lymphoblastic leukemia Novel variant Cluster Blood culture Antimicrobial susceptibility testing Surveys and Questionnaires Fragment analysis QuantiFERON-TB Gold-Plus Latent tuberculosis infection Phenotype Coffin-Siris syndrome Cell-free nucleic acids fusion Reverse transcriptase-polymerase chain reaction hamartoma syndrome PTEN PTEN Cowden syndrome B-lineage lymphoma Bone marrow study Karyotyping Fluorescence in situ hybridization Concordance Environmental exposure Endocrine system DNA gyrase B subunit Tenosynovitis Kosakonia cowanii OPHN1 Oligophrenin-1 Endocrine disruptors Intellectual disability X-linked intellectual disability Internal tandem duplication DEAD box helicase 41 Tumor marker Prostate specific antigen Non-ST elevation myocardial infarction Creatine kinase-MB Evaluation Prostate cancer Complete blood cell count Peripheral blood smear Automated hematology analyzer Troponin Copeptin Red blood cells Cryopreservation Signet ring cell carcinoma Metastasis Blood grouping reagent High-glycerol method Hematopoietic stem cell transplantation Automated gating Lymphocyte subset Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry ASTA MicroIDSys Germline mutation Circulating tumor DNA Multi-gene panel test Hereditary spherocytosis CDKN2A Hereditary cancer syndromes groEL Catheter-related blood stream infection Tsukamurella tyrosinosolvens ANK1 JAK2 Candida haemulonii Candida auris Biotyper Candida pseudohaemulonii Anti-Müllerian hormone Acute myeloid leukemia Reference values Menstruation Long-term disease-free survival Gastric cancer Qualitative reagent Cutoff Alpha-fetoprotein Standardization Proficiency testing Body fluid chemistry Zika virus Test performance evaluation Matrix effect Calcitonin Clinical significance Cancer genomics Diagnostic testing COVID-19 Cancer classification Genomic analysis Hematological malignancies Y chromosome loss Precision medicine Reverse transcription-PCR Sensitivity Circulating Neoplastic cells Clinical evaluation Multiplex real-time PCR Breast cancer Colorectal cancer Bone marrow Bone Culture Influenza virus SARS-CoV-2 Serology ELISA Specificity BRCA Mutation Hereditary breast and ovarian cancer (HBOC) syndrome diagnosis in vitro Pantoea ananatis MALDI-TOF MS Matrix-Assisted Laser Desorption-Ionization Mass spectrometry Routine Diagnostic Tests Database Acinetobacter Biotin interference Coniochaeta hoffmannii Vitamin D Thyroid function test Comparative Study Infection control Precision Human chorionic gonadotropin Pregnancy test Probit regression Qualitative test Carbapenemase Surveillance Xpert Carba-R assay Carbapenemase-producing Enterobacterales Fungemia Central line Acute myeloid leukemia Myelodysplastic syndromes Genetic variations Coronavirus disease NUDT15 Thiopurine Real-time PCR Digital PCR Quantitative PCR Hemolytic transfusion reaction Red blood cell transfusion Genotyping RhD Pulmonary nodule RHD-CE-D hybrid Intravenous immunoglobulins Duffy blood group system D-negative Analytical sensitivity Genetic testing Thromboelastography Genetic Profile Viral Drug Resistance Thrombin generation assay Coagulation factor Familial hypercholesterolemia Clinical Genome Resource Anticoagulation factor Anti-HIV Agents HIV Nucleic acid Multiplex cpn60 Assay Pathogen Interpretation report Immunofixation electrophoresis (IFE) Serum protein electrophoresis (SPEP) LDLR Serum protein electrophoresis Unexpected antibody Transplantation Hematopoietic stem cell de novo Rh blood group Functional assay Report Standardization Variant interpretation Early infantile epileptic encephalopathy Neurodevelopmental disease External quality assessment Quantitation Immunofixation electrophoresis Aplastic anemia Monoclonal gammopathy HCN1 Immunological dysregulation Monoclonal gammopathy of undetermined significance Molecular diagnostic techniques
Search Word in the Search Title Author Keywords Abstract AND OR Author Keywords Abstract Title AND OR Keywords Abstract Title Author AND OR Abstract Title Author Keywords Search Clear Year - Select- 2023202220212020201920182017201620152014201320122011 to - Select - 2023202220212020201920182017201620152014201320122011 Article Type - Article Type - TranslationOriginal ArticleCase ReportShort CommunicationEditorialCase DiscussionPhoto EssayReview ArticleEulogyPerspectiveGuidelineBrief ReportLetterBrief CommunicationErratumLetter to the Editor Next-generation sequencing 16S rRNA Guideline DNA copy number variations Congenital abnormalities Gene rearrangement Microarray analysis Prenatal diagnosis Antibodies Hereditary cancer Flow cytometry Microarray mutation Verification Questionnaire survey Monoclonal protein Bacteremia COVID-19 ABO genotyping Liquid biopsy Variant of uncertain significance Genetic counseling SARS-CoV-2 Pharmacogenetics Genotype Quality control Immunoassay Method comparison Multiple myeloma Leukocytosis Auto-anti-M antibody Pretransfusion test Hematology analyzer Mindray BC-6200 Antigen test Paracoccus yeei Immunocompetence Bronchiectasis Schizophyllum commune Peritoneal dialysis Peritonitis Leukapheresis Performance evaluation Plasma cell leukemia Neuroblastoma diagnostic medical device In vitro Questionnaire survey Practice guideline Medical device legislation Reagent kits Circulating tumor DNA Pharmacogenomic variants Infectious diseases Primary Immunodeficiency Orientation Tube Enhancer of zeste homolog 2 NUCKS1 Body fluid cellular analysis Congenital Disorder Body fluid Common variable immunodeficiency Severe combined immunodeficiency Primary immunodeficiency disease Weaver syndrome Urinalysis ABO antibodies Carboxy-terminal telopeptide of type I collagen Osteocalcin Bidirectional ABO mismatch Passenger lymphocyte syndrome Inherited platelet disorder Bleeding time Kidney transplantation Vancomycin Parathyroid hormone Simulation Unit size Unit Trough concentration Therapeutic drug monitoring 25(OH) vitamin D Clinical chemistry Quantitative test Platelet function tests Platelet function analyzer Albumin-to-protein ratio Enzymatic assays Cholesterol Albumin-creatinine ratio Triglycerides Autoanalyzer RAB29 Aggressive NK cell leukemia Analytic interference FLT3 Digital image analyzer PFA-200 PFA-100 White blood cell differential count UIMD PBIA Ascorbate oxidase Ascorbic acid Throughput Area under the curve Reversion Nontuberculous mycobacteria Mycobacterium tuberculosis Sample preparation Liquid chromatography/tandem mass spectrometry Direct PCR detection Acid-fast bacillus IL-6 Cytokine Severity Immunosuppressive drug Automated liquid handling Liver fibrosis Prostate-specific antigen cobas e801 Bias estimation Stiffness measurements M2BPGi Support vector machine Random forest Machine learning TNF-α 25-hydroxyvitamin D Viral infections Central nervous system infection Multiplex PCR Human herpesvirus 6 Coronavirus disease 2019 Nonpharmaceutical intervention GLIS2 CBFA2T3 Acute megakaryoblastic leukemia Corrected count increment (CCI) Platelet transfusion evaluation Obesity Prevalence Vitamin D deficiency Dyslipidemia Hypertension Platelet transfusion appropriateness Platelet product transfusion Fatty liver ADVIA Centaur XP Lymphoma grade Weak B Glycosyltransferase Cis-AB ABO discrepancy ABO discrepancy ABO subgroups STIL-TAL1 1p33 deletion T-lymphoblastic leukemia Novel variant Cluster Blood culture Antimicrobial susceptibility testing Surveys and Questionnaires Fragment analysis QuantiFERON-TB Gold-Plus Latent tuberculosis infection Phenotype Coffin-Siris syndrome Cell-free nucleic acids fusion Reverse transcriptase-polymerase chain reaction hamartoma syndrome PTEN PTEN Cowden syndrome B-lineage lymphoma Bone marrow study Karyotyping Fluorescence in situ hybridization Concordance Environmental exposure Endocrine system DNA gyrase B subunit Tenosynovitis Kosakonia cowanii OPHN1 Oligophrenin-1 Endocrine disruptors Intellectual disability X-linked intellectual disability Internal tandem duplication DEAD box helicase 41 Tumor marker Prostate specific antigen Non-ST elevation myocardial infarction Creatine kinase-MB Evaluation Prostate cancer Complete blood cell count Peripheral blood smear Automated hematology analyzer Troponin Copeptin Red blood cells Cryopreservation Signet ring cell carcinoma Metastasis Blood grouping reagent High-glycerol method Hematopoietic stem cell transplantation Automated gating Lymphocyte subset Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry ASTA MicroIDSys Germline mutation Circulating tumor DNA Multi-gene panel test Hereditary spherocytosis CDKN2A Hereditary cancer syndromes groEL Catheter-related blood stream infection Tsukamurella tyrosinosolvens ANK1 JAK2 Candida haemulonii Candida auris Biotyper Candida pseudohaemulonii Anti-Müllerian hormone Acute myeloid leukemia Reference values Menstruation Long-term disease-free survival Gastric cancer Qualitative reagent Cutoff Alpha-fetoprotein Standardization Proficiency testing Body fluid chemistry Zika virus Test performance evaluation Matrix effect Calcitonin Clinical significance Cancer genomics Diagnostic testing COVID-19 Cancer classification Genomic analysis Hematological malignancies Y chromosome loss Precision medicine Reverse transcription-PCR Sensitivity Circulating Neoplastic cells Clinical evaluation Multiplex real-time PCR Breast cancer Colorectal cancer Bone marrow Bone Culture Influenza virus SARS-CoV-2 Serology ELISA Specificity BRCA Mutation Hereditary breast and ovarian cancer (HBOC) syndrome diagnosis in vitro Pantoea ananatis MALDI-TOF MS Matrix-Assisted Laser Desorption-Ionization Mass spectrometry Routine Diagnostic Tests Database Acinetobacter Biotin interference Coniochaeta hoffmannii Vitamin D Thyroid function test Comparative Study Infection control Precision Human chorionic gonadotropin Pregnancy test Probit regression Qualitative test Carbapenemase Surveillance Xpert Carba-R assay Carbapenemase-producing Enterobacterales Fungemia Central line Acute myeloid leukemia Myelodysplastic syndromes Genetic variations Coronavirus disease NUDT15 Thiopurine Real-time PCR Digital PCR Quantitative PCR Hemolytic transfusion reaction Red blood cell transfusion Genotyping RhD Pulmonary nodule RHD-CE-D hybrid Intravenous immunoglobulins Duffy blood group system D-negative Analytical sensitivity Genetic testing Thromboelastography Genetic Profile Viral Drug Resistance Thrombin generation assay Coagulation factor Familial hypercholesterolemia Clinical Genome Resource Anticoagulation factor Anti-HIV Agents HIV Nucleic acid Multiplex cpn60 Assay Pathogen Interpretation report Immunofixation electrophoresis (IFE) Serum protein electrophoresis (SPEP) LDLR Serum protein electrophoresis Unexpected antibody Transplantation Hematopoietic stem cell de novo Rh blood group Functional assay Report Standardization Variant interpretation Early infantile epileptic encephalopathy Neurodevelopmental disease External quality assessment Quantitation Immunofixation electrophoresis Aplastic anemia Monoclonal gammopathy HCN1 Immunological dysregulation Monoclonal gammopathy of undetermined significance Molecular diagnostic techniques