Results 91 to 100 of about 4,572,851 (176)

Understanding the Experiences of Young People Living With Haemophilia—A UK Social Media Study

Haemophilia, EarlyView.
ABSTRACT Introduction Haemophilia is a rare congenital bleeding disorder that presents significant physical and psychological challenges, especially for young people, with limited real‐world evidence about their experiences in the UK. Aim This study sought to understand the perspectives and challenges of young people living with haemophilia in the UK ...
Emma Gayton, Ranjit Nagra, Bekki Millward, Erin Plummer, Laura Galimam, Alex Dowsett, Nikki Curry   +6 more
wiley   +1 more source

Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article

, 2022
This review focuses on recent findings in the preimplantation genetic testing (PGT) of embryos. Different preimplantation genetic tests are presented along with different genetic materials and their analysis.
Martin Stimpfel, Maja Tomic, Eda Vrtacnik Bokal   +2 more
core   +1 more source

Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer

npj Genomic Medicine
Recently, some clinics have begun using preimplantation genetic testing for monogenic disorders (PGT-M) for moderately penetrant breast cancer (BC) risk variants, while other clinics use polygenic risk scores (PRS) in the context of preimplantation ...
Todd Lencz, Upasana Bhattacharyya, Liraz Klausner, Jibin John, Shai Carmi   +4 more
doaj   +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, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Investigation of DNA repair in human oocytes and preimplantation embryos [PDF]

, 2010
DNA repair genes are expressed in mammalian embryos and in human germinal vesicles, however, little is known about DNA repair in human preimplantation embryos.
Jaroudi, S.
core  

Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?

, 2020
International audienceTo assess if the ovarian response of FMR1 premutated women undergoing preimplantation genetic testing (PGT) for Fragile X syndrome is lower compared with fully mutated patients, due to their frequent premature ovarian ...
Hess, Mathilde, Ferrieres-Hoa, Alice, Castelli, Christel, Anahory, Tal, Willems, Marjolene, Ranisavljevic, Noemie, Girardet, Anne   +6 more
core   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

The Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone, Luciane H. Gargaglioni   +1 more
wiley   +1 more source

Prenatal Fetal Growth Restriction and Cardiomyopathy Associated With an Unbalanced der(15)t(7;15): A Case Report

Clinical Case Reports
Severe fetal growth restriction with cardiomyopathy may indicate an underlying chromosomal abnormality. Genetic evaluation is essential for accurate counseling and management, and preimplantation genetic testing for structural rearrangements (PGT‐SR) may
Yoko Nagayasu, Nagisa Ishikawa, Seiichiro Nao, Atsushi Yoshida, Hiroshi Ohta, Misa Nunode, Mayumi Nakamura, Takumi Sano, Masae Yoo, Yutaka Odanaka, Daisuke Fujita, Tomohito Tanaka   +11 more
doaj   +1 more source

Expanding the horizons of embryo screening: performance and case studies of preimplantation genetic testing via whole genome sequencing

Academia Molecular Biology and Genomics
Conventional preimplantation genetic testing for aneuploidy (PGT-A) and for monogenic disorders (PGT-M) is very limited in scope. These methods typically assess chromosomal ploidy or target only one or two specific variants carried by the ...
Benjamin Podgursky, Maria Katz, Shenglai Li, Thomas Giardina, Becca Girod, Dhruva Chandramohan, Qinnan Zhang, Michael Feinman, Barry Behr, Jerry Lanchbury, Noor Siddiqui, Funda Suer, Yuntao Xia   +12 more
doaj   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, Volume 48, Issue 6, Page 1445-1454, December 2026.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source