Search Results - "Seol, Chang Ahn"

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant by Lee, Cha Gon, Seol, Chang Ahn, Ki, Chang‐Seok

“…Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) caused by germline de novo variants in FBXO11 was recently…”
Get full text

The first Korean case of disseminated mycetoma caused by Nocardia pseudobrasiliensis in a patient on long-term corticosteroid therapy for the treatment of microscopic polyangiitis by Seol, Chang-Ahn, Sung, Heungsup, Kim, Duck-Hee, Ji, Misuk, Chong, Yong-Pil, Kim, Mi-Na

“…Nocardia pseudobrasiliensis is predominantly associated with invasive infections in immunocompromised patients. We report a case of disseminated mycetoma…”
Get full text

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients by Kim, You Na, Song, Joon Seon, Oh, Seak Hee, Kim, Yoon Jeon, Yoon, Young Hee, Seo, Eul-Ju, Seol, Chang Ahn, Lee, Sae-Mi, Choi, Jong-Moon, Seo, Go Hun, Keum, Changwon, Lee, Beom Hee, Lee, Joo Yong

“…Due to the genotype–phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study…”
Get full text

Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience by Kim, Su Jin, Joo, Eunyoung, Park, Jisun, Seol, Chang Ahn, Lee, Ji-Eun

“…We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes…”
Get full text

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa by Kim, You Na, Kim, Yoon Jeon, Seol, Chang Ahn, Seo, Eul-Ju, Lee, Joo Yong, Yoon, Young Hee

“…Purpose. Retinitis pigmentosa (RP) shows great diversity between genotypes and phenotypes, and it is important to identify the causative genes. This study…”
Get full text

The First Case of Ganciclovir-Resistant Cytomegalovirus Colitis with a 597-600 Deletion in UL97 Gene after Stem Cell Transplantation in Korea by Seol, Chang Ahn, Ko, Young Jin, Kim, Sung-Han, Kim, Mi-Na, Sung, Heungsup, Lee, Je-Hwan

Get full text

First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia by Seol, Chang Ahn, Cho, Young Uk, Jang, Seongsoo, Park, Chan Jeoung, Lee, Jung Hee, Seo, Eul Ju

“…KCI Citation Count: 0…”
Get full text

Stretch-activated currents in cardiomyocytes isolated from rabbit pulmonary veins by Seol, Chang Ahn, Kim, Won Tae, Ha, Jeong Mi, Choe, Han, Jang, Yeon Jin, Youm, Jae Boum, Earm, Yung E., Leem, Chae Hun

“…Evidence is growing of a relationship between atrial dilation and atrial fibrillation (AF), the most prevalent type of arrhythmia. Pulmonary veins, which are…”
Get full text

Simulation of spontaneous action potentials of cardiomyocytes in pulmonary veins of rabbits by Seol, Chang Ahn, Kim, Jun, Kim, Won Tae, Ha, Jeong Mi, Choe, Han, Jang, Yeon Jin, Shim, Eun Bo, Youm, Jae Boum, Earm, Yung E., Leem, Chae Hun

“…Atrial fibrillation is the most prevalent arrhythmia, but the mechanisms by which it develops are not clear. Recently, over 90% of paroxysmal atrial…”
Get full text

The role of neuronal nitric oxide synthase on hypobaric hypoxiainduced antinociception in writhing test by Choi, Seung-Min, Chung, Soo-Young, Seol, Chang-Ahn, Sul, Jin-Gon, Kwon, Min-Soo

“…It has been reported that hypobaric hypoxia exposure by high altitude is responsible for neuropsychological impairment. In the present study, we examined an…”
Get full text

Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies by Lee, Cha Gon, Kim, Hyun Jung, Seol, Chang Ahn, Ki, Chang-Seok

“…Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF) is caused by heterozygous (MIM# 604910) variants on chromosome…”
Get full text

Differences in PD-1 expression on CD8+ T-cells in chronic myeloid leukemia patients according to disease phase and TKI medication by Lee, Min Young, Park, Chan-Jeoung, Cho, Young-Uk, You, Eunkyoung, Jang, Seongsoo, Seol, Chang Ahn, Seo, Eul-Ju, Choi, Eun-Ji, Lee, Je-Hwan

“…Malignant cells can increase in number using immune escape mechanisms such as immune checkpoints. In this study, we evaluated the expression of an immune…”
Get full text

Expression Levels of PD-1 on CD8+ T Cells in Chronic Myeloid Leukemia with and without BCR-ABL1 kinase Mutation by Lee, Min Young, Park, Chan-jeoung, Cho, Young-Uk, You, Eunkyoung, Jang, Seongsoo, Seol, Chang Ahn, Seo, Eul-Ju, Lee, Jung-Hee

“…Background: There are several ways for malignant cells to increase their number. One of them is to use immune checkpoints protecting malignant cells from…”
Get full text

Co-colonization of vanA and vanB Enterococcus faecium of clonal complex 17 in a patient with bacteremia due to vanA E. faecium by Seol, Chang Ahn, Park, Jeong Su, Sung, Heungsup, Kim, Mi-Na

“…Abstract A 53-year-old Vietnamese man with liver cirrhosis was transferred from a Vietnamese hospital to our tertiary care hospital in Korea in order to…”
Get full text

Prognostic Significance of Recurrent Additional Chromosomal Abnormalities in Adult Patients with Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia by Seol, Chang Ahn, Cho, Young-Uk, Jang, Seongsoo, Park, Chan-Jeoung, Lee, Jung-Hee, Lee, Je-Hwan, Lee, Kyoo Hyung, Seo, Eul-Ju

“…Abstract In Philadelphia (Ph) chromosome-positive acute lymphoblastic leukemia (ALL), additional chromosomal abnormalities (ACAs) are frequently observed. We…”
Get full text

POEMS Syndrome: Bone Marrow, Laboratory, and Clinical Findings in 24 Korean Patients by Shim, Hyoeun, Seol, Chang Ahn, Park, Chan Jeoung, Cho, Young Uk, Seo, Eul Ju, Lee, Jung Hee, Yoon, Dok Hyun, Suh, Cheol Won, Park, Sang Hyuk, Jang, Seongsoo

“…POEMS syndrome is a rare paraneoplastic syndrome, which includes polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes due to plasma cell…”
Get full text

The role of neuronal nitric oxide synthase on hypobaric hypoxia-induced antinociception in writhing test by Choi, Seung-Min, Chung, Soo-Young, Seol, Chang-Ahn, Sul, Jin-Gon, Kwon, Min-Soo

“…It has been reported that hypobaric hypoxia exposure by high altitude is responsible for neuropsychological impairment. In the present study, we examined an…”
Get full text

The characteristics of mitochondrial Ca 2+ dynamics in single permeabilized ventricular myocytes of rat by Leem, Chae Hun, Ha, Jeong Mi, Seol, Chang Ahn, Jung, Jin Hee, Koh, Eun A, Youm, Jae Boum, Choe, Han, Jang, Yeon Jin

“…Abstract only We would like to study the characteristics of the mitochondrial Ca 2+ dynamics in permeabilized rat ventricular myocytes. We monitored NADH, Ca…”
Get full text

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant by Lee, Cha Gon, Seol, Chang Ahn, Ki, Chang-Seok

Get full text