- Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
-
Choi Y, Choi DWY, Lee S
- KMID: 2544151
- J Genet Med.
- 2023 Jun;20(1):1-5.
- doi: 10.5734/JGM.2023.20.1.1
Until now, rare disease studies have mainly been carried out by detecting simple variants such as single nucleotide substitutions and short insertions and deletions in protein-coding regions of disease-associated gene... -
- CITED
-
- Close
- SHARE
-
- Close
- Duplicated extrahepatic bile duct (type Vb): An important rare anomaly
-
Varshney VK, Hussain S, Vignesh N, Selvakumar B, Agarwal L, Yadav T
- KMID: 2542588
- Ann Hepatobiliary Pancreat Surg.
- 2023 May;27(2):220-225.
- doi: 10.14701/ahbps.22-118
Congenital duplication of the extrahepatic bile duct (DEBD) is an unusual anomaly of the biliary system. It occurs due to inability of the embryological duplex biliary system to regress. DEBD... -
- CITED
-
- Close
- SHARE
-
- Close
- Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
-
Cheon CK, Shin YB, Kim SY, Seo GH, Lee H, Keum C, Oh SH
- KMID: 2537689
- J Genet Med.
- 2022 Dec;19(2):76-84.
- doi: 10.5734/JGM.2022.19.2.76
Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility... -
- CITED
-
- Close
- SHARE
-
- Close
- Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases
-
Lee JH
- KMID: 2526962
- Exp Neurobiol.
- 2022 Feb;31(1):1-16.
- doi: 10.5607/en22003
Patients suffering from rare human diseases often go through a painful journey for finding a definite molecular diagnosis prerequisite of appropriate cures. With a novel variant isolated from a single... -
- CITED
-
- Close
- SHARE
-
- Close
- Visualizing the phenotype diversity: a case study of Alexander disease
-
Dohi E, Bangash AH
- KMID: 2521529
- Genomics Inform.
- 2021 Sep;19(3):e28.
- doi: 10.5808/gi.21016
Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients presenting... -
- CITED
-
- Close
- SHARE
-
- Close
- Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants
-
Song Y, Kwon B, Al-Abdulwahhab AH, Nam YK, Ahn Y, Jeong SY, Seo EJ, Lee JK, Suh DC
- KMID: 2518721
- Korean J Radiol.
- 2021 Aug;22(8):1379-1396.
- doi: 10.3348/kjr.2020.1171
Rare neurovascular diseases (RNVDs) have not been well-recognized in Korea. They involve the central nervous system and greatly affect the patients’ lives. However, these diseases are difficult to diagnose and... -
- CITED
-
- Close
- SHARE
-
- Close
- Comparison of chronic kidney disease trial designs and analysis strategies
-
Lawrence J
- KMID: 2514885
- Kidney Res Clin Pract.
- 2021 Mar;40(1):62-68.
- doi: 10.23876/j.krcp.20.104
Background: Despite the large burden of chronic kidney disease (CKD), it is challenging to conduct adequately powered clinical trials in this setting. Sound and efficient trials are needed to advance... -
- CITED
-
- Close
- SHARE
-
- Close
- Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy
-
Jeon MJ, Park SG, Kim MJ, Lim BC, Kim KJ, Chae JH, Kim SY
- KMID: 2503611
- J Genet Med.
- 2020 Jun;17(1):43-46.
- doi: 10.5734/JGM.2020.17.1.43
The Shprintzen–Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI . SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is... -
- CITED
-
- Close
- SHARE
-
- Close
- Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
-
Ninomiya K, Takatsuki T, Kushida T, Yamamoto Y, Ogishima S
- KMID: 2503648
- Genomics Inform.
- 2020 Jun;18(2):e23.
- doi: 10.5808/GI.2020.18.2.e23
The Human Phenotype Ontology (HPO) is the de facto standard ontology to describe human phenotypes in detail, and it is actively used, particularly in the field of rare disease diagnoses.... -
- CITED
-
- Close
- SHARE
-
- Close
- A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media
-
Yamaguchi A, Queralt-Rosinach N
- KMID: 2503642
- Genomics Inform.
- 2020 Jun;18(2):e17.
- doi: 10.5808/GI.2020.18.2.e17
The amount of content on social media platforms such as Twitter is expanding rapidly. Simultaneously, the lack of patient information seriously hinders the diagnosis and treatment of rare/intractable diseases. However,... -
- CITED
-
- Close
- SHARE
-
- Close
- Update on rare epithelial ovarian cancers: based on the Rare Ovarian Tumors Young Investigator Conference
-
Jang JY, Yanaihara , Pujade-Lauraine E, Mikami Y, Oda K, Bookman M, Ledermann , Shimada M, Kiyokawa T, Kim BG, Matsumura , Kaku T, Kuroda T, Nagayoshi , Kawabata A, Iida Y, Kim JW, Quinn M, Okamoto A
- KMID: 2413437
- J Gynecol Oncol.
- 2017 Jul;28(4):e54.
- doi: 10.3802/jgo.2017.28.e54
There has been significant progress in the understanding of the pathology and molecular biology of rare ovarian cancers, which has helped both diagnosis and treatment. This paper provides an update... -
- CITED
-
- Close
- SHARE
-
- Close
- Spontaneous Splenic Rupture
-
Horn C, Keune J
- KMID: 2360755
- J Acute Care Surg.
- 2016 Oct;6(2):73-75.
- doi: 10.17479/jacs.2016.6.2.73
We present the case of a 27-year-old female who presented in hypovolemic shock due to splenic rupture without apparent cause. The patient underwent an open splenectomy followed by an uneventful... -
- CITED
-
- Close
- SHARE
-
- Close
- Current View of Orphan Drug Usage in Tertiary Hospital and Rare Incurable Disease Hospital
-
Choi KS, Jeong YM, Kim YJ, Kim YH, Gu H, Lee BK, Lee E, Rhie SJ
- KMID: 2358064
- Korean J Clin Pharm.
- 2016 Jun;26(2):121-127.
- doi: 10.0000/kjcp.2016.26.2.121
OBJECTIVE: Until now, there is minimal number of research for overall domestic status of orphan drug use in Korea. The purpose of this study is to identify the list of... -
- CITED
-
- Close
- SHARE
-
- Close
- Ultra-rare Disease and Genomics-Driven Precision Medicine
-
Lee S, Choi M
- KMID: 2328164
- Genomics Inform.
- 2016 Jun;14(2):42-45.
- doi: 10.5808/GI.2016.14.2.42
Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed,... -
- CITED
-
- Close
- SHARE
-
- Close
- The Use of Orphan Drugs for Infectious Disease: Current Status and Unmet Needs
-
Kim MJ, Chang HH, Jin S, Park JH, Jung H, Lee HJ, Choi SH, Kim SW
- KMID: 2268924
- Korean J Med.
- 2015 Dec;89(6):675-680.
- doi: 10.3904/kjm.2015.89.6.675
BACKGROUND/AIMS: The aim of this study was to investigate the inconveniences and potential improvements in the use of orphan drugs for the treatment of infectious diseases, as determined by a... -
- CITED
-
- Close
- SHARE
-
- Close
- Oncologist Perspectives on Rare Cancer Care: A Nationwide Survey
-
Shin DW, Cho J, Yang HK, Kim SY, Lee SH, Suh B, Shin HY, Lee HJ, Kim DG, Park JH
- KMID: 2403376
- Cancer Res Treat.
- 2015 Oct;47(4):591-599.
- doi: 10.4143/crt.2014.086
PURPOSE: In response to the challenges and difficulties imposed by rare cancers, multi-stakeholder initiatives dedicated to improving rare cancer care was launched, and several recommendations were made by professional societies.... -
- CITED
-
- Close
- SHARE
-
- Close
- Spinal Capillary Hemangioma Involving the Lumbar Epidural and Paraspinal Spaces: A Case Report
-
Yim B, Lee YJ, Park DW, Lee JY, Park CK, Paik SS
- KMID: 1823920
- J Korean Soc Radiol.
- 2015 Jul;73(1):36-39.
- doi: 10.3348/jksr.2015.73.1.36
Spinal capillary hemangiomas in the epidural space are extremely rare; however, a preoperative radiological diagnosis is very important because of the risk of massive intraoperative hemorrhage. We report a case... -
- CITED
-
- Close
- SHARE
-
- Close
- The role of de novo variants in complex and rare diseases pathogenesis
-
Rahman M, Lee W, Choi M
- KMID: 2055582
- J Genet Med.
- 2015 Jun;12(1):1-5.
- doi: 10.5734/JGM.2015.12.1.1
De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical and molecular review of atypical congenital adrenal hyperplasia
-
Sahakitrungruang T
- KMID: 1789524
- Ann Pediatr Endocrinol Metab.
- 2015 Mar;20(1):1-7.
- doi: 10.6065/apem.2015.20.1.1
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for... -
- CITED
-
- Close
- SHARE
-
- Close
- Spindle Cell Lipoma: A Rare, Misunderstood Entity
-
Seo BF, Kang IS, Oh DY
- KMID: 2134170
- Arch Craniofac Surg.
- 2014 Aug;15(2):102-104.
- doi: 10.7181/acfs.2014.15.2.102
Spindle cell lipoma, a rare variant of lipoma, is a benign tumor found in the posterior neck and shoulder. A 24-year-old man with a close family history of malignant lymphoma... -
- CITED
-
- Close
- SHARE
-
- Close
