Medical Genetics244

Pub YearTitleAJOU Author(s)
200716q-linked autosomal dominant cerebellar ataxia in a Korean family.김현주, 이필휴, 정선용
20183'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis강이중, 양시영, 정선용
2014A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.손영배
2013A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman손영배, 정윤석
2012A Case of CATCH22 Syndrome with Normal Parathyroid Function손영배, 안소연, 정윤석
2010A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation강석윤, 박준성, 이현우, 정선용, 정성현, 최진혁, 한재호
2007A Case of Down`s Syndrome with Thyrotoxic Crisis김대중, 김현주, 김혜진, 이관우, 정윤석
2005A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene김대중, 김연경, 김철호, 김현주, 송경은, 안상미, 이관우, 정선용, 정선혜, 정윤석
2007A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석, 최용준
2014A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation손영배, 장주영
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석
2001A case of slipped capital femoral epiphysis developed during growth hormone treatment김현만, 김현주, 이관우, 이수진, 정윤석
1998A Case of Splenic Embolization Followed by Splenectomy with Preservation of Accessory Spleen in Gaucher’s Disease김명욱, 김현주, 소의영, 임현이
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes손영배, 송형근, 정윤석, 최용준
2022A Comparison of the Antiosteoporotic Effects of Cornelian Cherry (Cornus mas L.) Extracts from Red and Yellow Fruits Containing Different Constituents of Polyphenols and Iridoids in Osteoblasts and Osteoclasts박은국, 정선용
2008A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene김미란, 김현주, 정윤석, 주희재
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱, 손영배, 정선용
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2009A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia고정민, 곽규성, 김현주
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.김옥화, 김현주, 정선용
2013A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome손영배
2015A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.손영배
2015A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.임신영, 정선용
2009A Review on Professional non-MD Genetic Counselors for Education and Accreditation in Korea김현주
2009A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea김현주
2016AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II손영배
2011Acquisition of a BCR-ABL1 transcript in a patient with disease progression from MDS with fibrosis to AML with myelodysplasia-related changes.김현주, 김효철, 박준성, 이현우, 정성현, 조성란
2010Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.김현주, 박일중, 박준은, 이위교, 조성란
2011Acute promyelocytic leukemia with complex translocation t(5;17;15)(q35;q21;q22): case report and review of the literature.김현주, 박일중, 박준은, 정현주, 조성란
2011Age-dependent association of the polymorphisms in the mitochondria-shaping gene, OPA1, with blood pressure and hypertension in Korean population.정선용, 진현석
1997Alterations of Cell Cycle Regulatory Proteins in Lung Cancer김현주, 박광화, 하만준, 황성철
2021Ameliorative effects of loganin on arthritis in chondrocytes and destabilization of the medial meniscus-induced animal model김정현, 박은국, 이창근, 정선용
2013An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.손영배, 정선용, 정윤석
2024Anti-adipogenic and anti-obesity effects of morroniside in vitro and in vivo박은국, 정선용
2020Anti-Menopausal Effects of Cornus officinalis and Ribes fasciculatum Extract In Vitro and In Vivo박은국, 정선용
2024Anti-obesity effects of Celosia cristata flower extract in vitro and in vivo박은국, 정선용
2021Anti-obesity effects of combined cornus officinalis and ribes fasciculatum extract in high-fat diet-induced obese male mice박은국, 이창근, 정선용
2023Anti-Osteoarthritic Effects of Prunella Vulgaris and Gentiana Lutea In Vitro and In Vivo김정현, 박은국, 정선용
2021Anti-osteoporotic effect of morroniside on osteoblast and osteoclast differentiation in vitro and ovariectomized mice in vivo김정현, 박은국, 이창근, 정선용
2019Anti-Osteoporotic Effects of Combined Extract of Lycii Radicis Cortex and Achyranthes japonica in Osteoblast and Osteoclast Cells and Ovariectomized Mice김정현, 박은국, 정선용
2019Anti-Osteoporotic Effects of Kukoamine B Isolated from Lycii Radicis Cortex Extract on Osteoblast and Osteoclast Cells and Ovariectomized Osteoporosis Model Mice김정현, 박은국, 정선용
2020Anti-Osteoporotic Effects of the Herbal Mixture of Cornus officinalis and Achyranthes japonica In Vitro and In Vivo김정현, 박은국, 이창근, 정선용
2018Antiadipogenic Effects of Loganic Acid in 3T3-L1 Preadipocytes and Ovariectomized Mice김정현, 박은국, 정선용
2020Antiadipogenic Effects of Mixtures of Cornus officinalis and Ribes fasciculatum Extracts on 3T3-L1 Preadipocytes and High-Fat Diet-Induced Mice박은국, 이창근, 정선용
2020Antiobesity Effects of Gentiana lutea Extract on 3T3-L1 Preadipocytes and a High-Fat Diet-Induced Mouse Model박은국, 이창근, 정선용
2021Antiosteoarthritic effect of morroniside in chondrocyte inflammation and destabilization of medial meniscus‐induced mouse model김정현, 박은국, 양시영, 이창근, 정선용
2023Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation손영배, 이성준, 이진수, 홍지만
2013Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.김현주, 손영배, 임신영
2000Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization.김완기, 김현주, 이영미, 하만준
2012Association Analysis of Reactive Oxygen Species-Hypertension Genes Discovered by Literature Mining진현석
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