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Familial Spinal Muscular Atrophy wigh Autosomal Dominant Inheritance

Hwang YM, Lee IC

  • KMID: 2016067
  • J Korean Neurol Assoc.
  • 1990 Jun;8(1):154-158.
Familial occurrence of spinal muscular atrophy(SMA) is not infrequent. Various modes of inheritance of the SMA have been reported and autosomal recessive inheritance appears the most frequent mode of transmission....
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A case of punctate palmoplantar keratoderma

Kim HJ, Lee ES

  • KMID: 2146479
  • Korean J Dermatol.
  • 2000 Dec;38(12):1679-1680.
Punctate palmoplantar keratoderma(PPK), also called Buschke-Fisher-Brauer disease, is an autosomal dominant disease with variable penetrance. Clinically there are multiple tiny punctate keratoses over the entire palmoplantar surfaces. Lesions are discrete...
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Current Status of Genomic Epidemiology Research

Kang D, Lee KM

  • KMID: 2283463
  • Korean J Prev Med.
  • 2003 Aug;36(3):213-222.
Genomic epidemiology is defined as "an evolving field of inquiring that uses the systematic application of epidemiologic methods and approaches in population-based studies of the impact of human genetic variation...
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Congenital Aniridia in a Family for Three Generations

Lee JI, Kim YH, Ahn CS

  • KMID: 1949771
  • J Korean Ophthalmol Soc.
  • 1990 Mar;31(3):383-389.
Aniridia is a congenital, often hereditary, usually bilateral absence of iris in whole or in part. And aniridia occurs mainly as an autosomal dominant condition with almost complete penetrance. In...
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Molecular Epidemiology of Breast Cancer

Noh DY, Kang D

  • KMID: 2210308
  • J Korean Surg Soc.
  • 2006 Apr;70(4):241-252.
Breast cancer has recently become the most common cancer in Korea. Although traditional epidemiological approaches, which are defined as "the study of the distribution and determinants of disease frequency in...
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A Case of Huntington's Chorea

Chung JW, Lee BC, Kim JS

  • KMID: 1957543
  • J Korean Neurol Assoc.
  • 1988 Dec;6(2):278-283.
This is a case report of 47 year-old male patient with Huntington's chorea. Huntington's chorea is a progressive neurodegenerative disorder with autosomal dominant inheritance. The first symptoms of Huntington's chorea...
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Retinoblastoma

Han HJ, Park BI

  • KMID: 2107005
  • J Korean Ophthalmol Soc.
  • 1970 Dec;11(4):59-65.
Retinoblastoma has been established as an inheritable disease. To the development of sporadic cases the mutation can be ascrivable. Once the gene has been established, however, it is transmitted as...
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A Case of the Oculopharyngeal Muscular Dystrophy

Lee JB, Kim KC, Bum SG

  • KMID: 2336426
  • J Korean Ophthalmol Soc.
  • 1987 Apr;28(2):489-494.
The oculopharyngeal muscular dystrophy is a distinct, clinically well-defined myopathy of later life inherited in an autosomal dominant fashion with complete penetrance. Blepharoptosis, dysphagia, lower leg weakness are the most...
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A Sporadic Case of Punctate Palmoplantar Keratoderma

Ahn BK, Chun SH, Lee WS

  • KMID: 1977875
  • Korean J Dermatol.
  • 2003 Dec;41(12):1694-1696.
Punctate palmoplantar keratoderma(PPK) is a rare disease, characterized by small, hard hyperkeratotic papules which are irregularly distributed on the palms and soles. PPK is an autosomal dominant disease with variable...
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A Case of Punctate Palmoplantar Keratoderma

Kim MY, Park HJ, Lee JY, Cho BK

  • KMID: 2250837
  • Korean J Dermatol.
  • 2002 Jun;40(6):715-717.
Punctate palmoplantar keratoderma(PPK) is an autosomal dominantly transmitted disease with variable penetrance. Clinically there are multiple tiny punctate keratoses over the entire palmoplantar surfaces. Lesions are discrete and diffuse, and...
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A Case of Stickler`s Syndrome

Han YK, Park SH, Shin HH

  • KMID: 2124327
  • J Korean Ophthalmol Soc.
  • 1999 Jul;40(7):2043-2047.
Stickler`s syndrome is a progressive, connective tissue disease which has an autosomal dominant trait with variable penetrance. Ocular changes include vitreoretinal degenera- tion, retinal pigmentary changes, retinal detachment, chori- oretinal...
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The Congenital Aniridia in One Family

Cho YA

  • KMID: 1948894
  • J Korean Ophthalmol Soc.
  • 1979 Mar;20(1):113-118.
Aniridia or irideremia is characterized by reduction of iris or absence of total iris, but a rudimentary iris is always present in most cases. This congenital anomaly is familial and...
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Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family

Ryu DJ, Kwon YS, Roh MR, Lee MG

The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously. The diagnostic...
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Analysis of Inheritance in Infantile Nystagmus

Kim IS, Park SC

  • KMID: 2022641
  • J Korean Ophthalmol Soc.
  • 1996 Jun;37(6):1054-1061.
Infantile nystagmus is characterized by involuntary oscillations of one or both eyes being present at birth or shortly thereafter without systemic or ophthalmologic lesions. Its inheritance pattern is not known...
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A Case of pulmonary lymphangioleiomyomatosis developed in tuberous sclerosis with renal angiomyolipoma

Kim MI, Kang HM, Lee HJ, Koh YH, Cho YS, Yoo JH

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by mental retardation, epilepsy, and adenoma sebaceum. Pulmonary involvement is uncommon, but, when involve by tuberous sclerosis, it shows...
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A Case of Hereditary Epidermolytic Palmoplantar Keratoderma in Four Consecutive Generations

Park SW, Hwang SW, Kim JW, Wang HY

  • KMID: 2251094
  • Korean J Dermatol.
  • 2001 Feb;39(2):231-234.
We observed a family with 12 members in four consecutive generations affected by hereditary epidermolytic palmoplantar keratoderma(HEPPK). The affected family members demonstrated not only autosomal dominant inheritance, but also a...
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A Case of Paroxysmal Dystonic Choreoathetosis

Ra SO, Hwang SC, Kim DH, Choi MS, Park KH, Kim SW

  • KMID: 2016090
  • J Korean Neurol Assoc.
  • 1991 Mar;9(1):107-111.
Paroxysmal choreoathetosis(dyskinesia) is classified into two subtypes: paroxysmal kinesigenic choreoathetosis(PKC) and paroxysmal dystonic choreoathetosis(PDC). PDC consist of attacks of dystonia and /or choreoathetosis during which the patients are dysarthric or...
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Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant

Kim MJ, Lee S, Jekarl DW, Chae H, Kim M, Jung HO, Jeon DS

Pathogenic variants of bone morphogenic protein receptor type 2 gene (BMPR2) are related to the majority of cases of heritable pulmonary arterial hypertension (PAH). Over 400 pathogenic variants have been...
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A Case of Familial Otosclerosis

Ban JH, Lee SS, Kwon HJ, Lee JK

  • KMID: 1977244
  • Korean J Otolaryngol-Head Neck Surg.
  • 2007 Feb;50(2):182-185.
Otosclerosis is a primary metabolic bone disease of the otic capsule and ossicles. It is one of the causes of acquired hearing loss, with clinical manifestations occurring in approximately 1%...
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A Case of LEOPARD Syndrome

Lee HJ, Chung HJ, Cho YH, Chung KY

  • KMID: 2302588
  • Korean J Dermatol.
  • 2005 Jul;43(7):949-952.
LEOPARD syndrome is an autosomal dominantly inherited multiple congenital anomaly syndrome with high penetrance and a markedly variable expression. LEOPARD is an acronym of lentigines, electrocardiographic conduction defects, ocular hypertelorism,...
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