- A Case of Pulmonary Alveolar Microlithiasis
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Lee BH, Kang BS, Min JW, Park SJ, Kim TH, Chung JH, Park CS
- KMID: 2319547
- Tuberc Respir Dis.
- 2011 Jul;71(1):55-58.
Pulmonary alveolar microlithiasis is a rare disease of unknown etiology that is characterized by the presence of calcific concentrations in the alveolar spaces. The radiographic appearance is pathognomonic. Plain chest... -
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- Aesthetic Facial Correction of Cleidocranial Dysplasia
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Hwang SM, Park B, Hwang MK, Kim MW, Lee JS
- KMID: 2308841
- Arch Craniofac Surg.
- 2016 Jun;17(2):82-85.
- doi: 10.7181/acfs.2016.17.2.82
We report two cases of cleidocranial dysplasia, which was managed without significant craniofacial osteotomy. A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and... -
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- Atrial standstill treated with implantation of permanent pacemaker
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Cho JH, Ahn YJ, Yun SE, Jeong YH, Choi BR, Hwang JY, Kwak CH
- KMID: 2259211
- Korean J Med.
- 2010 Jan;78(1):109-112.
Persistent atrial standstill is an extremely rare arrhythmia that was first described by Chavez et al. Electrocardiographically, atrial standstill is characterized by bradycardia, the absence of a P wave, and... -
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- Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations
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Lee YJ, Park SB
- KMID: 2400563
- Korean J Orthod.
- 2004 Dec;34(6):537-543.
Microsatellite markers are considered to be very promising genetic markers for genetic linkage analysis. The majority of the markers are as informative as in Caucasians but there are significant ethnic... -
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- A Case Of Penile Torsion With Family History
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Lee JM, Kim HC, Lee NK, Park YH
- KMID: 2327920
- J Korean Androl Soc.
- 1993 Dec;11(2):139-140.
Torsion of the penis(rotational defect of the shaft) as an isolated anomaly has rarely been reported. The embryologic abnormality appears to be a skin and dartos defect, as the torsion... -
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- Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
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Oh JY, Do HJ, Lee S, Jang JH, Cho EH, Jang DH
- KMID: 2371347
- Ann Rehabil Med.
- 2016 Dec;40(6):1129-1134.
- doi: 10.5535/arm.2016.40.6.1129
Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional... -
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- A Case of Pregnant Woman with beta-Thalassemia in Korean
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Ryu A
- KMID: 2404862
- Soonchunhyang Med Sci.
- 2017 Dec;23(2):143-145.
- doi: 10.0000/sms.2017.23.2.143
Thalassemia is hereditary disease characterized by impaired production of the normal globin peptide. Beta-thalassemia, a common disorder in Central Africa, the Middle East, and Southeast Asia, has been rarely reported... -
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- Study of the Allelic Frequency on Polymorphic Loci in the Short Arm of Chromosome 3 in Normal Koreans
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Son YJ, Kim IW, Yoon JH
- KMID: 1914084
- Korean J Urol.
- 1996 Oct;37(10):1087-1092.
The results of allelic frequency of polymorphic loci in the short arm of chromosome 3 in normal Koreans are shown using a polymerase chain reaction (PCR) based restriction fragment length... -
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- Implementing and Evaluating a Nurse Led Hereditary Cancer Genetics Educational Program in a Korean Breast Cancer Surgery Clinic
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Choi KS, Jun MH, Ahn SH, Anderson G
- KMID: 2290709
- J Korean Acad Adult Nurs.
- 2008 Dec;20(6):815-828.
PURPOSE: This study was to develop and evaluate the clinical utility of the breast and ovarian cancer genetic counselling program specific for 20 Korean women(KBOCGP). METHODS: The KBOCGP was developed using... -
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- Two Cases of Congenital Hypertrophy of Retinal Pigment Epithelium Associated with Familial Adenomatous Polyposis
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Kim HK, Han YB
- KMID: 1950001
- J Korean Ophthalmol Soc.
- 1992 Jul;33(7):662-666.
Familial adenomatous polyposis (FAP) is a rare hereditary disease that undergo malignant change and recent reports have described a very high incidence (87.5%-100.0%) of congenital hypertrophy of the retinal pigment... -
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- Human FEN-1 can process the 5'-flap DNA of CTG/CAG triplet repeat derived from human genetic diseases by length and sequence dependent manner
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Lee SM, Park MS
- KMID: 931883
- Exp Mol Med.
- 2002 Sep;34(4):313-317.
Trinucleotide repeat (TNR) instability can cause a variety of human genetic diseases including myotonic dystrophy and Huntington's disease. Recent genetic data show that instability of the CAG/CTG repeat DNA... -
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- Neurofibromatosis Type 1 with Spinal Arteriovenous Malformation
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Guak TH, Han SR, Lee KS
- KMID: 2342871
- J Korean Neurol Assoc.
- 2000 Nov;18(6):798-800.
Neurofibromatosis is a heterogenous hereditary disease with autosomal dominant transmission divided into two distinct types on the basis of genetic and clinical characteristics. Cervical vessels are rarely involved in neurofibromatosis... -
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- Structural Variation of Alu Element and Human Disease
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Kim S, Cho CS, Han K, Lee J
- KMID: 2353657
- Genomics Inform.
- 2016 Sep;14(3):70-77.
- doi: 10.5808/GI.2016.14.3.70
Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element... -
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- Identification of a Hemizygous R170H Mutation in the ALAS2 Gene in a Young Male Patient with X-linked Sideroblastic Anemia
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Choung HS, Kim HJ, Jung CW, Kim SH
- KMID: 2252205
- Korean J Hematol.
- 2008 Jun;43(2):118-121.
- doi: 10.5045/kjh.2008.43.2.118
X-linked sideroblastic anemia (XLSA) is a rare hereditary disease characterized by microcytic hypochromic anemia, ineffective erythropoiesis and the presence of numerous ringed sideroblasts in the bone marrow. The causative gene... -
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- Osteopetrosis with Hip Dislocation: Report of three Cases
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Chang J, Lee S, Lim H, Lee D, Kim Y
- KMID: 2445561
- J Korean Orthop Assoc.
- 1987 Dec;22(6):1355-1360.
- doi: 10.4055/jkoa.1987.22.6.1355
Osteopetrosis is a hereditary disease characterized by extraordinary thickness and densityof the cortical portions of the osseous system. The most likely explanation for the pathopysiology is that there is functional... -
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- Peutz-Jeghers Syndrome with Recurrent Intussusception
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Lee MJ, Kim JH, Hwang Y
- KMID: 2325075
- J Korean Surg Soc.
- 2005 Jul;69(1):88-91.
The Peutz-Jeghers syndrome is an autosomal dominant hereditary disease characterized by hamartomatous polyps of the gastrointestinal tract and by mucocutaneous melanin deposits. This syndrome is clinically important because of the... -
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- A study on iliac index in Korean children
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Kim CW, Lim JH, Kim KS
- KMID: 2346081
- J Korean Radiol Soc.
- 1973 Dec;9(2):149-154.
- doi: 10.3348/jkrs.1973.9.2.149
Abnormal pelvic configuration with resultant abnormal value of acetabular angle, iliac angle and illiac indexis well known in some congenital and hereditary diseases and its measurement is valuable in establishing... -
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- Two Cases of Waardenburg's Syndrome
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Moon YS, Kim JC
- KMID: 2204803
- J Korean Ophthalmol Soc.
- 1986 Aug;27(4):735-740.
Waardenburg's syndrome is a very rare hereditary disease with the outstanding clinical characteristics including lateral displacement of the medial canthi of the eyes and of the inferior lacrimal puncta, a... -
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- A Case of Waardenburg`s Syndrome
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Lee DW, Lee JH, Chang MH
- KMID: 2108346
- J Korean Ophthalmol Soc.
- 1997 Dec;38(12):2247-2250.
Waardenburg`s syndrome is a rare hereditary disease, which is characterized by dystopia canthorum, hypochromic heterochromic iridum, sensorineural deafness,high and broad nasal bridge, white forelock and premature graying. We present a... -
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- Three Cases of Waardenburg's Syndrome in One Family
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Song HK, Shin DE
- KMID: 2204837
- J Korean Ophthalmol Soc.
- 1987 Oct;28(5):1137-1142.
Warrdenburg's syndrome, a rare hereditary disease, may be transmitted as an irregular autosomal dominant traits, which is distinguished by lateral displacement of the medial canthi and inferior lacrimal puncta, broad... -
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