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Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia
Childhood B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by recurrent genetic abnormalities that drive risk-directed treatment...
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Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling
PurposeRecent advances in sequencing technologies have enabled radical and rapid progress in the genetic diagnosis of inherited retinal disorders...
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Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
BackgroundFetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and...
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The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping
PurposeProviding feasible preimplantation genetic testing strategies for monogenic disorders (PGT-M) for prevention and control of genetic cancers.
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Conventional IVF is feasible in preimplantation genetic testing for aneuploidy
PurposeTo investigate the feasibility of the application of conventional in vitro fertilization (cIVF) for couples undergoing preimplantation genetic...
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Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study
BackgroundCouples with balanced chromosome rearrangement (BCR) are at high risk of recurrent miscarriages or birth defects due to chromosomally...
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Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Neuromuscular disorders (NMDs) include a wide range of diseases affecting the peripheral nervous system. The genetic diagnoses are increasingly...
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Preimplantation genetic testing for familial amyloid polyneuropathy
BackgroundEmbryo selection in Familial amyloid polyneuropathy eradicates the disease, but the widespread application of preimplantation genetic...
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Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies
Purpose of ReviewDilated cardiomyopathy (DCM) is one of the most prevalent primary cardiomyopathies and may be caused by genetic and non-genetic...
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Prenatal Testing and Pregnancy Termination Among Muslim Women Living in Israel Who Have Given Birth to a Child with a Genetic Disease
The aim of the study was to investigate whether a Muslim woman with a child afflicted with a genetic disease who is living at home would perform more...
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Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines: a clinical implementation study
PurposeThis study focused on identifying a hereditary predisposition in women previously diagnosed with early-onset breast cancer through a...
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Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making
BackgroundWhereas the National Comprehensive Cancer Network (NCCN) criteria restrict germline-genetic testing (GGT) to a subset of breast cancer (BC)...
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Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices
BackgroundGermline genetic testing is recommended by the National Comprehensive Cancer Network (NCCN) for individuals including, but not limited to,...
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Aneuploidy screening after preimplantation genetic testing: a national survey of physician knowledge and practice
PurposeTo assess the knowledge of generalist OB/GYN providers on aneuploidy screening recommendations for patients who utilized preimplantation...
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Genetic testing and diagnosis of inherited retinal diseases
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and...
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Stratification in Heterozygous Familial Hypercholesterolemia: Imaging, Biomarkers, and Genetic Testing
Purpose of ReviewHeterozygous familial hypercholesterolemia (HeFH) is the most common monogenic autosomal dominant disorder. However, the condition...
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Embryo drop-out rates in preimplantation genetic testing for aneuploidy (PGT-A): a retrospective data analysis from the DoLoRes study
PurposeTo evaluate the decline in transferable embryos in preimplantation genetic testing for aneuploidy (PGT-A) cycles due to (a) non-biopsable...
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Germline Genetic Testing Among Women ≤ 45 Years of Age with Ductal Carcinoma In Situ Versus Invasive Breast Cancer in a Large Integrated Health Care System
BackgroundWe compared the results of hereditary cancer multigene panel testing among patients ≤ 45 years of age diagnosed with ductal carcinoma in...
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Reproductive outcomes of single frozen-thawed embryo transfer in patients with endometriosis after preimplantation genetic testing
PurposeThe reproductive outcomes of patients with endometriosis who are infertile have attracted recent attention. We aimed to explore whether...
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Genetic testing and family screening in idiopathic pediatric cardiomyopathy: a prospective observational study from a tertiary care center in North India
IntroductionThere are limited data on family screening and genetic testing in pediatric cardiomyopathy from India. This study was conducted to...
