- Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
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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... -
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- Duplicated extrahepatic bile duct (type Vb): An important rare anomaly
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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... -
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- Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
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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... -
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- Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases
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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... -
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- Visualizing the phenotype diversity: a case study of Alexander disease
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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... -
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- Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants
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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... -
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- Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
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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.... -
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- A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media
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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,... -
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- Update on rare epithelial ovarian cancers: based on the Rare Ovarian Tumors Young Investigator Conference
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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... -
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- Spontaneous Splenic Rupture
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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... -
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- The Use of Orphan Drugs for Infectious Disease: Current Status and Unmet Needs
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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... -
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- Oncologist Perspectives on Rare Cancer Care: A Nationwide Survey
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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.... -
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- The role of de novo variants in complex and rare diseases pathogenesis
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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... -
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- Spindle Cell Lipoma: A Rare, Misunderstood Entity
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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... -
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- Unusual Sjogren's Syndrome with Bilateral Parotid Cysts
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Seo BF, Ju RK, Kwok SK, Oh DY
- KMID: 2134169
- Arch Craniofac Surg.
- 2014 Aug;15(2):98-101.
- doi: 10.7181/acfs.2014.15.2.98
Sjogren's syndrome is a chronic autoimmune exocrinopathy that destroys salivary and lacrimal gland tissue. We report an unusual case of this disease in a 54-year-old woman who presented with multiple... -
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- Development of Korean Rare Disease Knowledge Base
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Seo H, Kim D, Chae JH, Kang HG, Lim BC, Cheong HI, Kim JH
- KMID: 2284562
- Healthc Inform Res.
- 2012 Dec;18(4):272-278.
- doi: 10.4258/hir.2012.18.4.272
OBJECTIVES: Rare disease research requires a broad range of disease-related information for the discovery of causes of genetic disorders that are maladies caused by abnormalities in genes or chromosomes. A... -
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- A rare case of primary ovarian leiomyoma with atypical Meigs' syndrome
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Choi SY, Park JS, Lee JW, Kim BG, Bae DS
- KMID: 1992628
- Korean J Obstet Gynecol.
- 2012 Apr;55(4):285-289.
- doi: 10.5468/KJOG.2012.55.4.285
Primary ovarian leiomyoma is a rare benign ovarian tumor. Ovarian leiomyoma accompanied with atypical Meigs' syndrome is extremely rare. A 13-year-old woman had underlying primary lymphedema and visited our clinic... -
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