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Dental Management in a Patient with Turner Syndrome with Dental Anomalies: A Case Report

Lee H, Shin S, Kim J, Lee D, Yang Y

Turner syndrome (TS) is a chromosomal disorder caused by monosomy of the X chromosome, with complete or partial absence of the second sex chromosome. Anomalies of root morphology have been...
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Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

Jung JY, Yang S, Jeong EH, Lee HC, Lee YM, Han HS, Yi KH

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY...
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Monosomal and complex karyotypes as prognostic parameters in patients with International Prognostic Scoring System higher risk myelodysplastic syndrome treated with azacitidine

Hwang KL, Song MK, Shin HJ, Na HJ, Shin DH, Kim JK, Moon JH, Ahn JS, Song IC, Hong J, Lee GW, Chung JS

BACKGROUND: Azacitidine (AZA) is standard care for patients with myelodysplastic syndrome (MDS) who have not had allogeneic stem cell transplantation. Chromosomal abnormalities (CA) including complex karyotype (CK) or monosomal karyotype...
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Mosaic Turner syndrome associated with schizophrenia

Jung SY, Park JW, Kim DH, Jun YH, Lee JS, Lee JE

Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had...
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Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment

Jin DK

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in...
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Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet's Disease

Kim JY, Lee KH, Lee SC, Lee JY

  • KMID: 1441721
  • Clin Pediatr Hematol Oncol.
  • 2012 Apr;19(1):40-43.
We describe an 18 year old female with monosomy 22 mosaicism and thrombocytopenia. She had some unique facial appearance such as small eyes and thin lip, similar to those with...
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A Case of Therapy-related Myeloid Neoplasm after Successful Treatment of Acute Promyelocytic Leukemia

Kwon A, Park JY, Kwon JH, Song HH, Shin KS, Lee YK, Cho HC

Acute promyelocytic leukemia (APL) is considered as a curative disease after combined chemotherapy based on all-trans retinoic acid (ATRA) and anthracycline. However, as long-term survivors continue to increase, reports on...
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A case of terminal deletion of chromosome 10p

Cho JH, Park JE, Ko MK, Kim EJ, Park JK, Lee SA, Lee JH, Paik WY

Chromosome 10p deletion (partial monosomy 10p) is rare chromosomal disorder. It was first reported in 1970. Since then, as far as we know, about 45 patients have been described. The...
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Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010)

Han SH, An JW, Yang YH, Kim YJ, Cho HI, Lee KR

PURPOSE: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such...
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Erythroleukemia Relapsing as Precursor B-cell Lymphoblastic Leukemia

Park BG, Park CJ, Jang S, Seo EJ, Chi HS, Lee JH

AML relapsing as ALL has rarely been reported. We describe the case of a 62-yr-old man who was diagnosed with erythroleukemia with a complex karyotype and achieved complete hematologic and...
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Correlation between Karyotype and Phenotype in Turner Syndrome

Shim YJ, Hwang YJ, Lee KS

  • KMID: 2244893
  • J Genet Med.
  • 2009 Jun;6(1):67-73.
PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical...
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A case of Graves' disease associated with Turner's syndrome

Chung JO, Cho DH, Chung DJ, Chung MY

  • KMID: 1479588
  • Korean J Med.
  • 2008 Mar;74(3):325-329.
It is becoming increasingly evident that adults with Turner's syndrome are susceptible to endocrine autoimmunity. An increased prevalence of thyroid autoantibodies and hypothyroidism in patients with Turner's syndrome has been...
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Two Cases of Acute Leukemic Transformation with a Chromosome 17 Abnormality and p53 Overexpression Evolving from Essential Thrombocythemia

Cho YU, Chi HS, Jang S, Park CJ, Seo EJ, Lee JH

Essential thrombocythemia (ET) is a clonalmyeloproliferative disorder that can rarely transform into acute leukemia in 1~5% of cases. A recent study has found that a significant proportion of leukemic cases...
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The Prognostic Significance of Chromosome 18 Monosomy in the Colon Cancer: Correlations with the Expressions of Smad4 and TGF-beta Receptor II Proteins

Choi YS, Lim HM, Kim BG, Lee TJ

  • KMID: 2211101
  • J Korean Surg Soc.
  • 2007 Sep;73(3):227-234.
PURPOSE: Chromosomal instability of chromosome 18 and inhibition of the transforming growth factor beta (TGF-beta) signaling pathway, which is mediated through Smad4, play important roles in the tumorigenesis of colon...
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Hematologic and Clinical Features of 3q21q26 Syndrome: Extremely Poor Prognosis and Association with Central Diabetes Insipidus

Chung HJ, Seo EJ, Kim KH, Jang S, Park CJ, Chi HS, Lee JH, Lee JH, Lee KH

BACKGROUND: 3q21q26 syndrome includes chromosomal abnormalities of inv(3)(q21q26), t(3;3) (q21;q26), and ins(3;3)(q26;q21q26). It causes hematological diseases by the leukemogenic mechanism that the enhancer of ribophorin I gene in 3q21...
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A Case of 45,X Turner's Syndrome with Iron Deficiency Anemia due to Menometrorrhagia and Spontaneous Sexual Development

Kwon MK, Chon S, Koh GP, Oh SJ, Woo JT, Kim SW, Kim JW, Kim YS

  • KMID: 2331197
  • J Korean Soc Endocrinol.
  • 2005 Apr;20(2):160-167.
Short stature and gonadal dysgenesis are two characteristic clinical features of Turners syndrome. Very rarely, patients with Turners syndrome may menstruate and even be fertile. We experienced a case of...
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A Case of Childhood Acute Lymphoblastic Leukemia with Monosomy 20 and Parotid Gland Involvement

Kim HR, Hong SA, Choe BK, Kim HS, Ha JS, Jeon DS, Kang YN

  • KMID: 2279497
  • Korean J Pediatr.
  • 2004 Dec;47(12):1347-1350.
Hypodiploidy exists in 3-15% of patients with childhood acute lymphoblastic leukemia(ALL) and is associated with a poor prognosis. Monosomy 7 and monosomy 20 account for most karyotypic abnormalities in patients...
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A Case of Myeloid Blast Crisis of Atypical Chronic Myelogenous Leukemia

Cho HS, Lee CH, Kim KD, Lee KH, Bae SH, Cho D, Ryang DW

  • KMID: 2252410
  • Korean J Hematol.
  • 2003 Aug;38(3):200-204.
Atypical chronic myelogenous leukemia (aCML) has dysplastic as well as proliferative features in most instance and rarely evolves to blast crisis, so it is considered as a distinct clinical entity...
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A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)

Lee SY, Cho SM

  • KMID: 1606978
  • J Korean Pediatr Soc.
  • 2003 Aug;46(8):831-835.
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome...
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Monosomy 21 Mosaicism in a Child with Dyserythropoiesis

Lim JY, Seo JH, Choi MB, Park CH, Woo HO, Youn HS

  • KMID: 2207062
  • J Korean Pediatr Soc.
  • 2003 Apr;46(4):397-399.
All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating...
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