Results 101 to 110 of about 44,045 (236)

Strategy for the creation of clinical grade hESC line banks that HLA‐match a target population

open access: yesEMBO Molecular Medicine, 2012
Here, we describe a pre‐derivation embryo haplotyping strategy that we developed in order to maximize the efficiency and minimize the costs of establishing banks of clinical grade hESC lines in which human leukocyte antigen (HLA) haplotypes match a ...
Laureen Jacquet   +9 more
doaj   +1 more source

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

open access: yesHaemophilia, 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   +6 more
wiley   +1 more source

A preimplantation genetic testing of monogenic diseases. Description of clinical case

open access: yes, 2018
Preimplantation genetic testing performed to analyze the chromosomal structural rearrangements, monogenic/single gene defects and aneuploidies. The aim of this study is to show the discussion of a clinical case of preimplantation genetic testing in the ...
Tatyana E. Ivaschenko   +7 more
core   +1 more source

Preimplantation Genetic Testing: A Fundamental Right [PDF]

open access: yes, 2022
Unlike many European countries of similar economic, social, scientific, and political advancement, there is virtually no regulation of preimplantation genetic testing in the United States.
Swann, Julianna S.
core  

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

open access: yesJournal 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 Genetics

open access: yes, 1998
editorial from the Second International Symposium on Preimplantation Genetics, Chicago, Illinois, September 18-21 ...
Verlinsky, Yury, Kuliev, Anver
core  

Illustration of the different nucleation error phenotypes (NEP) in early preimplantation embryos.

open access: yes, 2022
Illustration of the different nucleation error phenotypes (NEP) in early preimplantation embryos.
Bjørn Molt Petersen (9662148)   +5 more
core   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

open access: yesThe 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   +1 more
wiley   +1 more source

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

open access: yesTaiwanese Journal of Obstetrics and Gynecology, 2014
Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation.
Chun-Kai Chen   +3 more
openaire   +3 more sources

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

open access: yesInternational 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   +13 more
wiley   +1 more source

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