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Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations

Han JY, Lee S, Woo H, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

Purpose: The purpose of this study was to expand our understanding of phenotypic and genetic variation in Allan-Herndon-Dudley syndrome (AHDS), which is a rare X-linked mental retardation syndrome characterized by...
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A Case of Effective Treatment of a Patient with PCDH 19-Related Epilepsy using Corticosteroid

Lee DM, Chung HJ

An uncommon female-limited intractable epilepsy, protocadherin (PCDH) 19-related epilepsy, is characterized by mutations in the PCDH 19 gene, located on chromosome X. Clinical symptoms include early onset, fever sensitivity, focal...
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Eruptive Vellus Hair Cysts in a Patient with Mental Retardation

Lee SY, Son HO, Chun SW, Kim JB, Cho HK, Ro BI, Choi HG

  • KMID: 2386239
  • Korean J Dermatol.
  • 2017 Jun;55(5):290-292.
Eruptive vellus hair cysts (EVHCs) are small, red- or brown-colored cystic papules that usually occur on the chest and proximal extremities of children and adults. Histologically, these small cysts are...
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Altered Translational Control of Fragile X Mental Retardation Protein on Myelin Proteins in Neuropsychiatric Disorders

Jeon SJ, Ryu JH, Bahn GH

Myelin is a specialized structure of the nervous system that both enhances electrical conductance and insulates neurons from external risk factors. In the central nervous system, polarized oligodendrocytes form myelin...
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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

Lee JH, Kim HJ, Yoon JM, Cheon EJ, Lim JW, Ko KO, Lee GM

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in...
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Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation

Hdiji O, Turki E, Bouzidi N, Bouchhima , Damak M, Bohlega S, Mhiri C

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited...
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Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder

Shin S, Yu N, Choi JR, Jeong S, Lee KA

BACKGROUND: All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder...
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Efficacy of a Day-Hospital Treatment Program for Child with Pervasive Developmental Disorder and Mental Retardation : A Retrospective Study

Ryu JE, Lee SJ

OBJECTIVES: The purpose of this study was to investigate the effectiveness of a day-hospital treatment program designed to help development of children with pervasive developmental disorder (PDD) and mental retardation...
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A Case of Mental Retardation with Paraphilia Treated with Depot Leuprorelin

Park WS, Kim KM, Jung YW, Lim MH

Paraphilia is a psychiatric disease that has been difficult to cure. However, recently developed therapeutic methods hold promise. The patient was a 20-yr-old male with chief complaints of continuous masturbation,...
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Use of Various Treatment Modalities for Autism Spectrum Disorder and Mental Retardation

Kim KM, Choi IC, Lee SB, Lee KK, Paik KC, Lee JY, Lim MH

OBJECTIVES: The purpose of this study was to investigate the use of various treatment modalities including pharmacotherapy, education-behavior therapy, and complementary alternative treatment for children with mental retardation (MR) or...
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Giant Congenital Melanocytic Nevus with Multiple Satellite Lesions in a Korean Woman with Mental Retardation

Son HO, Go JW, Lee SY, Kim SH, Cho HK

  • KMID: 2247235
  • Korean J Dermatol.
  • 2013 Mar;51(3):185-188.
Giant congenital melanocytic nevi (GCMN) are defined as melanocytic nevi that are greater than 20 cm in largest dimension at birth. GCMN is a relatively rare condition, affecting approximately 1...
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A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome

Cho EH, Kim SY, Kim JK

Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill...
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A Case Report of Noonan Syndrome with Mental Retardation and Attention-Deficit Hyperactivity Disorder

Kim WW, Shim SH

  • KMID: 2291659
  • J Korean Acad Child Adolesc Psychiatry.
  • 2012 Mar;23(1):31-35.
Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set...
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No Association between Single Nucleotide Polymorphisms in Urocanase Domain Containing 1 (UROC1) and Autism Spectrum Disorders (ASDs) in the Korean Population

Park J, Ro M, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Chung JH, Kwack K

  • KMID: 2291656
  • J Korean Acad Child Adolesc Psychiatry.
  • 2012 Mar;23(1):8-13.
OBJECTIVES: Urocanase domain containing 1 (UROC1) has never been studied in prior studies on autism spectrum disorders (ASDs). UROC1 causes urocanic aciduria, one of the symptoms of which is mental...
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A Case of Massive Empyema Caused by Streptococcus constellatus and Anaerobic Bacteria for Mental Retardation

Kim KH, Kim SH, Heo JW, Lee SH, Han SS, Lee SJ, Kim WJ

  • KMID: 2319633
  • Tuberc Respir Dis.
  • 2011 Dec;71(6):476-479.
The Streptococcus milleri group, which also includes S. anginosus, S. intermedius and S. constellatus, is found in the oropharynx, upper respiratory tract, gastrointestinal tract, and urogenital tract mucosa. Bacteria in...
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The general anesthesia experience of deletion 8p syndrome patient: A case report

Shin WJ, Kim SD, Kim KH

A deletion 8p syndrome is a relatively uncommon congenital disease characterized by mental retardation associated with multiple malformation that make anesthetic management a challenge. Anesthetic management of a patient with...
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Clinical Diagnoses, Psychopathology, and Neurocognitive Tests in Children Referred for Scholastic Difficulties and Their Parents

Bhang SY, Park JW, Lim JI

  • KMID: 2291690
  • J Korean Acad Child Adolesc Psychiatry.
  • 2011 Mar;22(1):16-24.
OBJECTIVES: This study examined the prevalence of psychiatric problems in children with scholastic difficulties who had been referred for mental health services from the Office of Education in Ulsan Metropolitan...
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The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in...
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Clinical Characteristics of Children with Williams Syndrome According to Age

Eom HJ, Chung HJ, Kim SW, Kim YK

  • KMID: 2176826
  • J Korean Child Neurol Soc.
  • 2010 Nov;18(2):214-224.
PURPOSE: Williams syndrome (WS) is an autosomal dominant genetic disorder, caused by deletion at chromosome 7q11.23. Although WS is characterized by congenital heart disease (CHD), mental retardation, and distinctive facial...
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A Case of Kallmann's Syndrome with Frontal Lobe Atrophy and Mental Retardation

Hyun S, Park S, Kang DG, Jeong SU, Lee DH, Koh G

Kallmann's syndrome is a rare condition, and this is defined as hypogonadotropic hypogonadism and anosmia or hyposmia. The syndrome may be associated with cleft lip, cleft palate, color blindness, skeletal...
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