Zobrazeno 1 - 10
of 220
pro vyhledávání: '"Ja Hyun Jang"'
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a fema
Externí odkaz:
https://doaj.org/article/bdcc116234d243a7b0a047bed4d87a2e
Autor:
Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact. To address this, we enrolled 232 adult probands with undiagnosed conditions, utilizing bioinformatics tools for genet
Externí odkaz:
https://doaj.org/article/49b5f7d7d62c42b19e87bd0c4acb8308
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Background: Differential diagnosis of developmental delay (DD) and/or intellectual disability (ID) is challenging because of the diversity of phenotypic manifestations as DD/ID patients usually have combined congenital malformations, autism-spectrum
Externí odkaz:
https://doaj.org/article/e9ed943bbcae49c58183ab7770a99758
Autor:
Mi-Ae Jang, Jong Kwon Lee, Jong-Ho Park, Sungsoon Hwang, Young-gon Kim, Jong-Won Kim, Youn-Ji Hong, Sang Jin Kim, Ja-Hyun Jang
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Recently, a founder Alu insertion in exon 4 of RP1 was detected in Japanese and Korean patients with inherited retinal diseases (IRDs). However, carrier frequency and diagnostic challenges for detecting AluY insertion are not established. We
Externí odkaz:
https://doaj.org/article/f042f98ef08443c5a7947d75a8f10cf5
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract This scientific report aims to comprehensively describe the genetic and clinical characteristics of PROM1-related retinal degeneration in Korean patients. Medical records of patients diagnosed with retinal dystrophy who underwent comprehensi
Externí odkaz:
https://doaj.org/article/808e51109f7e42748f1520a6c5c86c5f
Autor:
Minhee Kang, Eunjung Jeong, Ji-Yeon Kim, Sun Ae Yun, Mi-Ae Jang, Ja-Hyun Jang, Tae Yeul Kim, Hee Jae Huh, Nam Yong Lee
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract In the ongoing global fight against coronavirus disease 2019 (COVID-19), the sample preparation process for real-time reverse transcription polymerase chain reaction (rRT-PCR) faces challenges due to time-consuming steps, labor-intensive pro
Externí odkaz:
https://doaj.org/article/60a68dab0ff048519b9f8955731f4aef
Autor:
Tae Yeul Kim, Min-Seung Park, Sun Ae Yun, Minhee Kang, Doo Ri Kim, Areum Shin, Hyun-Young Kim, Mi-Ae Jang, Ja-Hyun Jang, Min-Jung Kwon, Hee Jae Huh, Yae-Jean Kim, Nam Yong Lee
Publikováno v:
Microbiology Spectrum, Vol 12, Iss 4 (2024)
ABSTRACTThe aim of this study was to compare the performance of the newly developed SMG HHV-6 Q Real-Time PCR Kit (SMG assay) with the RealStar HHV-6 PCR Kit (RealStar assay). The analytical sensitivity and specificity, linearity, and precision of th
Externí odkaz:
https://doaj.org/article/67bddb4288e54b51babe25064d27c2d7
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurologica
Externí odkaz:
https://doaj.org/article/a42e0f77ece4463f9f823f664258298e
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: RNA sequence analysis can be effectively used to identify aberrant splicing, and tumor suppressor genes are adequate targets considering their loss-of-function mechanisms. Sanger sequencing is the simplest method for RNA sequence analys
Externí odkaz:
https://doaj.org/article/3929c3d11572458d93308b262879befa
Autor:
Won Young Heo, Shin Yi Jang, Taek Kyu Park, Chang‐Seok Ki, Jong‐Won Kim, Duk‐Kyung Kim, Ja‐Hyun Jang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Vascular Ehlers‐Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has limitations for diagnosis since exon deletion/duplication and splici
Externí odkaz:
https://doaj.org/article/df00328144864b81b29d23934d4cc772