Browsing by Keyword : DNA Mutational Analysis

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Showing results 1 to 42 of 42

Publication YearTitleAJOU
Author
2008A case of Birt-Hogg-Dubé syndrome.정선용김현주김유찬
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2004A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.주인수허균
2013An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.김옥화
2008Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.용석우
2008Are there any ethnic differences in molecular predictors of erlotinib efficacy in advanced non-small cell lung cancer?최진혁
2009Association of lamivudine-resistant mutational patterns with the antiviral effect of adefovir in patients with chronic hepatitis B.정재연조성원
2011Association of TP53 mutations with stem cell-like gene expression and survival of patients with hepatocellular carcinoma우현구
2010Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.김옥화
2015Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.손영배
2012Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients김구상
2003Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.방오영허균이필휴김현주
2010Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.고정민
2013Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.정윤석김옥화
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency손영배김옥화
2017Clinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study권지은
2000Connexin26 mutations associated with nonsyndromic hearing loss.박홍준한시훈전영명박기현
1995E1a activation of insulin receptor gene expression is mediated by Sp1-binding sites.서해영
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2003Frameshift mutations in the bax gene are not involved in development of ovarian endometrioid carcinoma.장기홍
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김현주정선용정연훈김유찬
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
2013Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.김옥화
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배정선용
2016Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication정성현한재호조성란
2002Molecular analysis of PCCB gene in Korean patients with propionic acidemia.김순남
2016Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma이해상황진순
2000Mutation analysis of Korean patients with citrullinemia.한시훈
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.손영배정선용김현주
2006Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.김현주
2004Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.김현주
2010Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.김옥화
2012Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease이용희
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2012Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation황진순
2015Strong immunoexpression of midkine is associated with multiple lymph node metastases in BRAFV600E papillary thyroid carcinoma.최용원이정훈소의영박태준김장희
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
2006The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.정선용박상진김현주
2005Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.김대중이관우
2015VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases.임현이한재호이기범이정훈소의영김대중정윤석정선용신승수김장희
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