Quantitative Fluorescence PCR (QF-PCR)

Quantitative fluorescence (QF)-PCR is a rapid molecular method that test for common chromosomal aneuploidies in prenatal diagnosis. Here is the latest research.

September 1, 2021
Case Report

A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293.

Clinical Case Reports
Shengfang QinYunxing Li
August 21, 2021
Open Access

Cumulus cells of euploid versus whole chromosome 21 aneuploid embryos reveals differentially expressed genes.

Reproductive Biomedicine Online
Ashley W TiegsRichard T Scott
August 19, 2021

Monitoring of ddcfDNA by STRs, concentration of total cfDNA and fragment size for acute rejection risk assessment in liver transplantation.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
Esther Fernández-GalánMercè Brunet
July 31, 2021
Open Access

Novel method of real-time PCR-based screening for common fetal trisomies.

BMC Medical Genomics
So Yeon KimJoong Shin Park
July 30, 2021

[Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
Li DingMin-Yue Dong
July 27, 2021

The Effect of HBB: c.-121C>T Variant [-71 (C>T)] on the β-Globin Promoter: Case Series Study.

Milad RafatKianoosh Malekzadeh
July 20, 2021
Open Access

PCR vs karyotype for CVS and amniocentesis-the experience at one tertiary fetal medicine unit.

Irish Journal of Medical Science
Catherine FinneganFergal D Malone
July 20, 2021
Case Report
Open Access

Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report.

International Journal of Reproductive Biomedicine
Reza MohammadiReza Pazhoomand
July 17, 2021

Frequencies of Beta Thalassemia Mutations Show Different Pattern in Bannu Region than Other Parts of Pashtun Population in Khyber Pakhtunkhwa Province Pakistan.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
Shoaib U RehmanRauf Niazi
July 17, 2021

Design and Development of Reverse Slot Blot for the Simultaneous Detection of Rare and Regional Specific Mutations in the Beta Globin Gene in Khuzestan Province of Iran.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
Hamid GalehdariSogand Heydaran
July 17, 2021
Open Access

Downregulation of FeSOD-A expression in Leishmania infantum alters trivalent antimony and miltefosine susceptibility.

Parasites & Vectors
Ana Maria Murta SantiSilvane Maria Fonseca Murta
July 14, 2021

Application of Multiple Short Tandem Repeat Loci for Rapid Diagnosis of Down Syndrome and Edward Syndrome.

Clinical Laboratory
Kangying WangXiaoli Shen
July 13, 2021
Open Access

Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis.

Taiwanese Journal of Obstetrics & Gynecology
M Rosario Torres AguilarM Reyes Granell Escobar
July 10, 2021
Open Access

Second trimester induced abortions due to fetal anomalies-a population-based study of diagnoses, examinations and clinical management.

Acta Obstetricia Et Gynecologica Scandinavica
Agnes EdlingEva Bergman
July 2, 2021
Open Access

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China.

International Journal of Hematology
Zhen WangYanlin Ma
June 23, 2021
Open Access

Molecular diagnosis of sex chromosome mosaics in fetal amniotic cells.

Zuqian FanLei Sun

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