- Completeness of pedigree and family cancer history for ovarian cancer patients
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Son Y, Lim MC, Seo SS, Kang S, Park SY
- KMID: 2130124
- J Gynecol Oncol.
- 2014 Oct;25(4):342-348.
- doi: 10.3802/jgo.2014.25.4.342
OBJECTIVE: To investigate the completeness of pedigree and of number of pedigree analysis to know the acceptable familial history in Korean women with ovarian cancer. METHODS: Interview was conducted in 50... -
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- A Case of Kallmann Syndrome Inherited in Autosomal Dominant Mode
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Nam YS, Lee SH, Lee WS, Park C, Kim JW, Cha KY
- KMID: 1891298
- Korean J Fertil Steril.
- 1999 Dec;26(3):491-495.
OBJECTIVE: To report the pedigree of Kallmann syndrome inherited in autosomal dominant mode with variable expressivity. MATERIAL AND METHOD: Case report. RESULTS: The patient had amenorrhea and anosmia but did not have... -
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- Pedigree analysis in Korean familial adenomatous polyposis patients: Korean polyposis registry
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Park KJ, Park JG, Choi KW, Won CK, Kim KY, Kim SM, Kim YJ, Kim EK, Kim JH, Kim JC, Moon C, Moon HY
- KMID: 1685469
- Korean J Gastroenterol.
- 1992 Oct;24(5):996-1014.
No abstract available. -
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- A Case Report of Tuberous Sclerosis
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Moon SH, Ko SH, Kim ST
- KMID: 1660146
- J Korean Pediatr Soc.
- 1977 Jan;20(1):57-61.
A 13 years old boy who had typical triad of tuberous sclerosis-adenoma cebaceum, mental deficiency, and epileptic seizure-was presented. He also had some white patches on his right buttock and... -
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- A Case of Dyschromatosis Symmetrica Hereditaria
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Rhee TH, Ro YS
- KMID: 2303230
- Korean J Dermatol.
- 2000 Aug;38(8):1130-1132.
Dyschromatosis symmetrica hereditaria (DSH) is characterized by a symmetrical distribution of hyperpigmented and hypopigmented macules on the extremities, especially over the dorsa of the hands and feet. The pattern of... -
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- Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study
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Rekha S, Ramalingam R, Parani M
- KMID: 2428990
- J Audiol Otol.
- 2018 Oct;22(4):223-228.
- doi: 10.7874/jao.2018.00122
BACKGROUND AND OBJECTIVES: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the... -
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- Two Cases of Familial Asymmetric Septal Hypertrophy
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Park BI, Oh BH, Kim SY, Yoo HJ, Park CH, Seo JD, Lee YW
- KMID: 1677235
- Korean Circ J.
- 1979 Jun;9(1):47-57.
- doi: 10.4070/kcj.1979.9.1.47
Two cases of familial asymmetric septal hypertrophy diagnosed by myocardial biopsy and clinical studies are reported with literature reviewed. Myocardial biopsy was done at right ventricular septal wall, and pedigree... -
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- Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China
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Feng SY, Feng SM, Li LY, Zou ZY
- KMID: 2407961
- J Clin Neurol.
- 2018 Apr;14(2):261-263.
- doi: 10.3988/jcn.2018.14.2.261
No abstract available. -
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- Study of Genetic Inheritance in Osmidrosis Patients Based on Pedigree Analysis
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Lee JW, Kim JT, Kim CY
- KMID: 2203152
- J Korean Soc Plast Reconstr Surg.
- 2008 Sep;35(5):565-568.
PURPOSE: Bacterial degeneration of sweat and increased secretion of over developed apocrine sweat gland are known causes of osmidrosis. In addition, genetic inheritance must be another important cause, because there... -
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- A Case of Pili Torti
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Park JJ, Chung H, Chung BS
- KMID: 2230810
- Korean J Dermatol.
- 1995 Oct;33(5):998-1001.
In pili torti, the affected Eair shaft is flattened and twisted through 180 degrees on its own axis. The involved hairs are dry, thin, brittle, and break off easily. Congenital... -
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- Pedigree of the Specific Family of the FAP in Specific District of Korea and Psychologic Distress
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Hur SJ, Lee SH, Park HC, Oh SM, Yoon S, Lee KH
- KMID: 2142365
- J Korean Soc Coloproctol.
- 1999 Oct;15(4):331-338.
Familial Adenomatous Polyposis (FAP) is a rare and autosomal dominantly inherited disorder characterized by the development of hundreds to thousands of colorectal polyps. Korean Polyposis Registry was established in July,... -
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- A Case of Familial IgA Nephropathy
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Kim YJ, Kim WK, Yoon SA, Lee JS, Ha TS
- KMID: 1442149
- J Korean Soc Pediatr Nephrol.
- 2011 Apr;15(1):81-85.
- doi: 10.3339/jkspn.2011.15.1.81
IgA nephropathy is the most common form of primary glomerulonephritis and chronic glomerular disease worldwide including Korea. Familial gathering of IgA nephropathy suggests that genetic factors contribute to the development... -
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- A Program for Efficient Phasing of Three-Generation Trio SNP Genotype Data
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Song S, Kim S
- KMID: 1806241
- Genomics Inform.
- 2011 Sep;9(3):138-141.
Here, we report a computer program written in Python, which phases SNP genotypes and infers inherited deletions based on the pattern of Mendelian inheritance within a trio pedigree. When tiered... -
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- A cases of Congenital Nephrogenic Diabetes Insipidus with Bilateral Hydronprosis
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Sohn YM, Lee C, Kim PK, Yun DJ
- KMID: 1667921
- J Korean Pediatr Soc.
- 1980 May;23(5):417-422.
A 13 year old boy was diagnosed as primary nephrotic diabetesinsipidus, whose symptom has been devloped from 3 years of age, subsequetly he developed bilateral hydronephrosis and neurogenic bladder. His... -
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- Renal Cell Carcinoma Occurred in One Family
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Park IS, Yoon YD, Kim HG, Chung SK
- KMID: 2289470
- Korean J Urol.
- 1989 Dec;30(6):934-938.
The etiology of renal cell carcinoma has not been clarified and the familial renal cell carcinoma accompanied with karyotypic abnormalities is very rarely reported in the world literatures. Recently the... -
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- Genetic and Environmental Factors of Two-phalanged Fifth Toe in Korean
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Sohn HJ, Oh JR
- KMID: 1583635
- Korean J Phys Anthropol.
- 2006 Sep;19(3):149-157.
Anatomically, we have known that the first toe is composed of 2 phalangeal bones (proximal and distal phalanx) and the second, third, fourth, fifth toe are composed of 3 phalangeal bones... -
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- Dyschromatosis Universalis Hereditaria
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Ro YS, Nam TS, Lee CW, Park CK, Seou WP, Kim JH
- KMID: 2362053
- Ann Dermatol.
- 1990 Jan;2(1):24-30.
- doi: 10.5021/ad.1990.2.1.24
Dyschromatosis universalis hereditaria is a rare pigmentary disorder initially described in the Japanese literature. The pattern of inheritance is believed to be autosomal dominant, but many sporadic cases have been... -
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- A Study on the Genetic Inheritance of Ankyloglossia Based on Pedigree Analysis
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Han SH, Kim MC, Choi YS, Lim JS, Han KT
- KMID: 2120685
- Arch Plast Surg.
- 2012 Jul;39(4):329-332.
- doi: 10.5999/aps.2012.39.4.329
BACKGROUND: Ankyloglossia or tongue-tie is a congenital anomaly characterized by an abnormally short lingual frenum. Its prevalence in the newborn population is approximately 4%. Its mode of inheritance has been... -
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- Anesthetic Management for 1 Patient with Cis A2B3 Blood Group
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Kim DW, Sohn SH
- KMID: 1752559
- Korean J Anesthesiol.
- 1994 May;27(5):493-498.
- doi: 10.4097/kjae.1994.27.5.493
AB blood group is determined by A and B genes located on each chromosome which is inherited from parents. But unusual inheritance of A and B genes on the same... -
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- Osteogenesis Imperfecta: Case Report
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Kang CJ, Ha SH, Lee SH, Park KH
- KMID: 2445425
- J Korean Orthop Assoc.
- 1989 Oct;24(5):1497-1502.
- doi: 10.4055/jkoa.1989.24.5.1497
Osteogenesis imperfecta is a hereditary condition characterized by fragility of bone, deafness, blue sclera, laxity of joints and a tendency to improvement with age. Authors experienced osteogenesis imperfecta that develped... -
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