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Proteomic Signatures in Spermatozoa Reveal the Role of Paternal Factors in Recurrent Pregnancy Loss

Mohanty G, Jena SR, Nayak J, Kar S, Samanta L

PURPOSE: To identify the paternal factors responsible for aberrant embryo development leading to loss of foetus in recurrent pregnancy loss (RPL) through proteomic analysis of ejaculated spermatozoa. MATERIALS AND METHODS: This...
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Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile

Kwak DW, Boo H, Chang EH, Ryu HM, Han YJ, Chung JH, Kim MY, Yang EJ, Yoo HJ, Kim JW

OBJECTIVE: To evaluate the prevalence and distribution of chromosomal defects in Korean fetuses with nuchal translucency (NT) above the 99th percentile and to analyze them according to the degree of...
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Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

Jo HC, Park JK, Baek JC, Park JE, Kang MY, Cho IA

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI...
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Guideline on safety evaluation of cell-based medicinal products for animal use

Ku HO, Yi H, Park YI, Jeon BS, Kang HG, Kim YS, Park BK

With the increased use of cell therapy in the veterinary sector, there is a growing demand for the development of cell-based medicinal products and the determination of their safety. Currently,...
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Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review

Park JE, Park JK, Kang MY, Jo HC, Cho IA, Baek JC

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal...
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Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW

PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in...
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Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review

Park JE, Park JK, Cho IA, Baek JC

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we...
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Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant

Jung YJ

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and...
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A Case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth

Shin J, Kim G, Lee R, Jung N, Shim YJ, Ha JS

Jacobsen syndrome (JS) is a contiguous gene syndrome resulting from a deletion of chromosome 11q, with various clinical manifestations. A post-term small for gestational age infant was born by normal...
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Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

Shim SH, Cha DH

Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal...
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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

Lee SH, Song WJ

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay...
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Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay

Lee KY, Shin E

PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH)...
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Prenatal diagnosis of aberrant right subclavian artery in an unselected population

Song MJ, Han BH, Kim YH, Yoon SY, Lee YM, Jeon HS, Park BK

PURPOSE: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other...
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Evaluation of a new flow cytometry based method for detection of BCR-ABL1 fusion protein in chronic myeloid leukemia

Dasgupta S, Ray UK, Mitra AG, Bhattacharyya DM, Mukhopadhyay A, Das P, Gangopadhyay S, Roy S, Mukhopadhyay S

BACKGROUND: Philadelphia chromosome, a hallmark of chronic myeloid leukemia (CML), plays a key role in disease pathogenesis. It reflects a balanced reciprocal translocation between long arms of chromosomes 9 and...
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Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
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Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus

Yoo DY, Kim HJ, Cho KH, Kwon EB, Yoo EG

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of...
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De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Sánchez-Casillas AL, Rivera H, Castro-Martínez AG, García-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P

No abstract available.
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A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement

Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK

No abstract available.
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Clinical Features and Molecular Characteristics of Korean Patients with Congenital Aniridia

Hahn IK, Kim DH, Lim HT

PURPOSE: To introduce clinical features and molecular characteristics of Korean patients with congenital aniridia. METHODS: Patients with iris hypoplasia were diagnosed clinically as congenital aniridia and were included in the study....
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Molecular Features of Three Children Diagnosed With Early T-Cell Precursor Acute Lymphoblastic Leukemia

Park D, Kim M, Kim Y, Han K, Lee JW

No abstract available.
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