Results 81 to 90 of about 24,692 (232)
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification [PDF]
, 2009 Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit.
Chow, JFC +6 more
core +1 more source
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
Pre-implantation Genetic Diagnosis of Thalassemias
Thai Journal of Obstetrics and Gynaecology, 2018 Beta-Thalassemia major, beta-thalassemia-Hb E disease and Hb Bart’s disease are severe hereditary anemia which are prevalent in Thailand and neighborhood countries.
Wirawit Piyamongkol
doaj +1 more source
Ethical Attitudes of German Specialists in Reproductive Medicine and Legal Regulation of Preimplantation Sex Selection in Germany [PDF]
, 2013 The majority of German specialists in reproductive medicine opposes preimplantation sex selection for nonmedical reasons while recommending preimplantation sex selection for medical reasons, e.g.
Dahl, Edgar
core +1 more source
The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
Preimplantation genetic diagnosis
Zdravniški Vestnik, 2013 Backg round: Preimplantation genetic diagnosis (PGD) is used to analyze embryos before their transfer into uterus. It is suitable for a group of patients who are at a substantial risk of conceiving a pregnancy affected by a known genetic defect.
Karin Writzl
doaj
The X Factor in Immunity: Sex Differences Shaped by the X Chromosome
Immunological Reviews, Volume 338, Issue 1, March 2026.ABSTRACT There are sex differences with immune responses where females exhibit stronger immune responses compared to males. Both sex hormones and sex chromosome differences between males and females contribute to the observed sex differences with innate and adaptive immune cell composition and function.
Katherine B. Radovanovic +2 more
wiley +1 more source
Reprogenetics: preimplantational genetics diagnosis [PDF]
Genetics and Molecular Biology, 2014 Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS) to assures an euploid embryo
openaire +5 more sources
Changes in Italian Nurses' Genetic Knowledge and Perceptions Over a Decade
Nursing &Health Sciences, Volume 28, Issue 1, March 2026.ABSTRACT Genetic knowledge is increasingly important in nursing, yet often seen as of limited relevance. This study examines Italian nurses' genetic knowledge and perceived relevance, comparing current findings with data from a 2011 survey. A cross‐sectional survey was carried out using a self‐administered questionnaire. A total of 504 nurses (95.1% of
Lea Godino +3 more
wiley +1 more source
Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf +4 more
wiley +1 more source