Oral cancer prediction by noninvasive genetic screening
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Cancer"
DOI: 10.1002/ijc.34277
Abstract: Oral squamous cell carcinomas (OSCCs) develop in genetically altered epithelium in the mucosal lining, also coined as fields, which are mostly not visible but occasionally present as white oral leukoplakia (OL) lesions. We developed a… read more here.
Keywords: cancer; noninvasive genetic; genetically altered; oral cancer ... See more keywords
Congenital glaucoma prevention program—Evaluation of patient knowledge and acceptance of genetic screening
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.70087
Abstract: This cross‐sectional study evaluated the knowledge and understanding of basic genetic concepts, as well as the acceptance of screening and preventive measures, among 100 adult patients and/or parents of children with primary congenital glaucoma (PCG)… read more here.
Keywords: prevention program; genetic screening; glaucoma prevention; knowledge ... See more keywords
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.70134
Abstract: Preconception care (PCC), particularly genetic testing, is essential for improving reproductive health outcomes in high‐risk families, including those with consanguineous marriages. Whole‐exome sequencing (WES) has shown promise in identifying autosomal recessive disorders, yet its use… read more here.
Keywords: whole exome; genetic screening; consanguineous palestinian; high risk ... See more keywords
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12206
Abstract: To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) program. We designed a high‐throughput iPLEX genotyping assay to detect 28 SLC25A13… read more here.
Keywords: genetic screening; screening; cholestasis caused; screening neonatal ... See more keywords
Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1295
Abstract: Abstract Background Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes. Methods We performed next‐generation sequencing on… read more here.
Keywords: mlh1; genetic screening; identification novel; novel pathogenic ... See more keywords
Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns
Sign Up to like & getrecommendations! Published in 2019 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-018-00222-2
Abstract: BackgroundTo optimize and apply an approach suitable for large-scale neonatal thalassemia genetic screening in China, thalassemia genotypes were determined by polymerase chain reaction-reverse dot blot using DNA extracted from dried blood spots (DBS) obtained from… read more here.
Keywords: genetic screening; thalassemia; dried blood; shenzhen ... See more keywords
The milestone of genetic screening: Mammalian haploid cells
Sign Up to like & getrecommendations! Published in 2020 at "Computational and Structural Biotechnology Journal"
DOI: 10.1016/j.csbj.2020.09.006
Abstract: Mammalian haploid cells provide insights into multiple genetics approaches as have been proved by advances in homozygous phenotypes and function as gametes. Recent achievements make ploidy of mammalian haploid cells stable and improve the developmental… read more here.
Keywords: genetic screening; milestone genetic; mammalian haploid; genetics ... See more keywords
Theory and practice of preimplantation genetic screening (PGS).
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103670
Abstract: OBJECTIVE In the context of artificial reproductive technology (ART) treatments with in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), the purpose of genetic screening of oocytes and embryos in vitro prior to implantation (preimplantation… read more here.
Keywords: genetic screening; pgs; preimplantation genetic; practice ... See more keywords
Allele-specific PCR and next generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104369
Abstract: Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier diagnostic tool in routine clinical practice. Also, with the advent… read more here.
Keywords: genetic screening; screening; screening congenital; adrenal hyperplasia ... See more keywords
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2020.10.015
Abstract: ANXA11 mutations have previously been discovered in amyotrophic lateral sclerosis (ALS) motor neuron disease. To confirm the contribution of ANXA11 mutations to ALS, a large exome data set obtained from 330 French patients, including 150… read more here.
Keywords: genetic screening; anxa11 revealed; amyotrophic lateral; screening anxa11 ... See more keywords
Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.
Sign Up to like & getrecommendations! Published in 2018 at "Obstetrics and gynecology clinics of North America"
DOI: 10.1016/j.ogc.2017.10.009
Abstract: Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and… read more here.
Keywords: preimplantation; preimplantation genetic; genetic screening; genetic diagnosis ... See more keywords