Preimplantation genetic diagnosis (PGD)
착상전 유전진단 (Preimplantation Genetic Diagnosis)의 임상적 적용
... (preimplantation genetic diagnosis, PGD)은 산전진단 (prenatal diagnosis)의 대안으로 소 개된 방법으로, 착상전 배아 단계에서 유전질환이 나 염색체 이상의 유무를 진단하여 이환되지 않은 배아를 이식함으로써 정상적인 태아의 임신을 성 립시킬 수 있는 ...
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A Study of Guideline for Genetic Counselling in Preimplantation Genetic Diagnosis (PGD)
... Key words: Preimplantation genetic diagnosis (PGD), genetic disease, genetic counseling, non-MD genetic counselor, survey, guideline.[r] ...
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Outcome of Preimplantation Genetic Diagnosis in Patients with Klinefelter Syndrome
... (preimplantation genetic diagnosis, PGD)은 착상전의 배아에서 염색체 또는 유전자 진 단을 하여, 정상 염색체 및 유전질환에 이환되지 않 은 건강한 임신을 할 수 있는 방법으로 알려져 있 으며, 염색체 이수성이나 유전질환을 가진 태아의 출생 및 자연 유산을 예방할 수 있는 방법으로 보 조생식술에 접목되어 널리 시도되고 ...
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Identification of a Novel Single Nucleotide Polymorphism of Gene at a Referred Primer-binding Site During Pre-diagnostic Testsfor Preimplantation Genetic Diagnosis
... for preimplantation genetic diagnosis (PGD) of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by polymerase chain reaction (PCR) and direct sequencing for hydroxyacyl-Coenzyme A ...
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Improvement of Pregnancy Rate in Preimplantation Genetic Diagnosis with FISH Procedure by the Laboratory Optimization and Experiences
... 119 . 평균 연령은 31.4± 3.9 세였다 전체 . 1,333 개의 배아 에서 착상전 유전진단을 성공적으로 시행하여 309 (2.6± 1.8) 개의 배아가 정상 또는 balanced (23.2%) 임을 확인할 수 있었다 이 중에서 . 283 (2.5± 1.3) 개 의 배아를 112 주기에서 이식하여 29 주기 (25.9%) 에 서 positive β -hCG 를 확인할 수 있었다 출산된 ...
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Preimplantation Genetic Diagnosis for Ornithine TranscarbamylaseDeficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization:
... 28. Choi HW, Lee HS, Lim CK, Koong MK, Kang IS, Jun JH. Reliability of the single cell PCR analysis for preimplantation genetic diagnosis of single gene disorders. Korean J Fertil Steril 2005; 32: ...
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Reliability of the Single Cell PCR analysis for Preimplantation Genetic Diagnosis of Single Gene Disorders
... This protocol has been successfully applied to clinical PGD cycles for couples at high risk for having children with single gene disorders. We could diagnose and transfer mutation free embryos into mother's uterus in all ...
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Molecular Genetic Testing and Diagnosis of Wilson Disease
... 그러나 체내 구리 과잉 축적을 나타 내는 세룰로플라스민 비결합 혈청 구리(nonceruloplas- min bound copper, free copper)는 윌슨 병에서 높게 나 오므로 진단에 도움을 줄 수 있다.. 정확한 세룰로플라스민 비결합 혈청 구리 측정을 하기 위하여는 구리가 결합된 세룰로플라 스민(holocerul[r] ...
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Genetic Diagnosis of ALS/MND ALS/MND 의 유전진단
... 임상양상과 전기생리학적 검사 등으로 ALS로 진단받은 환자의 경우 조부모, 부모, 형제 등 3대 이상의 가족력을 조 사하여 FALS인지 SALS인지 확인하여야 하며, 가족력이 있 는 FALS의 경우 유전자 검사를 시행하여 원인 돌연변이를 확인하는 것이 권장된다... 3, 2011.[r] ...
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Correlation between Morphologic Grading and Euploidy Rates of Blastocysts, and Clinical Outcomes in In Vitro Fertilization Preimplantation Genetic ScreeningObstetrics & Gynecology
... DISCUSSION To summarize, the present study described the correlations between blastocyst morphologic grades and their euploidy rates. As the morphologic grades get better, the euploidy rates also increase. Among the ...
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Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus
... Considering the abovementioned gene-specific fac- tors, we postulate that our approach targeting the whole DMD region with tiling design provide the best approach for noninvasive prenatal diagnosis of DMD. Instead ...
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Feature Analysis based on Genetic Algorithm for Diagnosis of Misalignment
... accurate diagnosis and the main- tenance of compressor system are limited though the simple structure of compressor and compression are advantaged to reduce the ...efficient diagnosis method is proposed ...
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Cancer Diagnosis System using Genetic Algorithm and Multi-boosting Classifier
... 본 논문에서는 2D-PAGE로부터 얻은 프로테옴 데이 터를 이용하여 암환자와 정상인을 예측 분류하는 암 진단 시스템을 제안하고 그 성능을 평가한다. 향상된 분류 정 확도를 달성하기 위하여 잡음 , 편이, 편차에 우수하고 특 히 자료가 충분하지 않은 경우에 안정적인 결과를 산출하 는 앙상블(ensemble)기법과 아다부스팅(Adaboosting) 기 법을 복합적으로 응용하여 ...
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Expression of Ids in Preimplantation Mouse Embryos
... The aim of this study was to investigate the expression pattern of Ids (Id-1,-2,-3, and -4) in preimplantation mouse embryos at mRNA and protein levels.. Methods: Oocytes and preimplant[r] ...
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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
... A genetic diagnosis is required for a definitive diagnosis of NPHP-RC, because the clinical features of patients with NPHP-RC are rather non-specific, and their symptoms overlap ...common ...
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Development of New Vitrification Method for Preimplantation Mouse Embryo
... Therefore, the vitrification of embryos using the paste in straw methods for in-straw dilution and direct transfer into recipients compared with step-wise re- mova[r] ...
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Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis PGHN
... direct genetic diagnosis including complete DNA sequencing has become much easier and more rapid than in the ...cases, genetic diagnosis is now becoming the most specific and sensitive ...
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A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis
... rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical condi- ...However, genetic testing is ...
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The Effects of Resveratrol on Oocyte Maturation and Preimplantation Embryo Development
... It was demonstrated that 2 μM resveratrol during IVM of porcine oocytes showed beneficial effects on oocyte maturation and subsequent embryonic development of porc[r] ...
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Medical Diagnosis Problem Solving Based on the Combination of Genetic Algorithms and Local Adaptive Operations
... Medical diagnosis can be considered a classification task which classifies disease types from patient’s condition data represented by a set of pre-defined ...hybrid genetic algorithm based classification ...
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