Results 71 to 80 of about 2,389 (154)

Shaping Future Children, Sex Selection, and “Normal” Human Capacities

Bioethics, EarlyView.
ABSTRACT If we think that parents have an obligation to have a healthy child then we need to know what counts as healthy, when male and female children are born with very different capacities. If we give up on the idea that our obligations to use technologies of genetic selection are discharged once we try to secure the birth of a healthy child, as ...
Robert Sparrow
wiley   +1 more source

Preimplantation genetic screens [PDF]

Science, 2015
Although our knowledge of genetic abnormalities that cause health disorders is expanding, the pace of discovering cures for genetic diseases is not nearly as fast. However, technologies applicable to preventing heritable genetic diseases have been developing, among them so-called “next-generation sequencing.” This efficient and inexpensive means to ...
openaire   +2 more sources

Preimplantation Genetic Testing for Families at Risk of Haemophilia: Ten‐Year Single‐Centre Experience

Haemophilia, EarlyView.
ABSTRACT Introduction Preimplantation genetic testing for monogenic diseases (PGT‐M) is a reproductive option for couples at high risk of transmitting inherited disorders. We report a ten‐year single‐centre PGT‐M experience in families at risk of hemophilia.
Mimosa Mortarino, Isabella Garagiola, Valeria Nicotra, Alessandra Riccaboni, Cristina Guarneri, Edgardo Somigliana, Flora Peyvandi   +6 more
wiley   +1 more source

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

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, EarlyView.
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

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Preimplantation diagnosis for neurofibromatosis

Reproductive BioMedicine Online, 2002
Preimplantation genetic diagnosis (PGD) has recently been performed for inherited cancer predisposition determined by p53 tumour suppressor gene mutations, suggesting the usefulness of PGD for late onset disorders with genetic predisposition, including those caused by the germline mutations of other tumour suppressor genes.
Yury, Verlinsky, Svetlana, Rechitsky, Oleg, Verlinsky, Anna, Chistokhina, Tatyana, Sharapova, Christina, Masciangelo, Michael, Levy, Brian, Kaplan, Kevin, Lederer, Anver, Kuliev   +9 more
openaire   +2 more sources

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

EMBO 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, Emma Stephenson, Robert Collins, Heema Patel, Jane Trussler, Roaa Al‐Bedaery, Pamela Renwick, Caroline Ogilvie, Robert Vaughan, Dusko Ilic   +9 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

Preimplantation diagnosis for immunodeficiencies

Reproductive BioMedicine Online, 2007
Preimplantation genetic diagnosis (PGD) has become an established procedure for the detection of single gene disorders, and has recently been performed together with human leukocyte antigen (HLA) typing for couples with children affected by genetic disorders that require HLA-identical stem cell transplantation therapy. For these couples, PGD can ensure
Yury, Verlinsky, Svetlana, Rechitsky, Tatyana, Sharapova, Katya, Laziuk, Irina, Barsky, Oleg, Verlinsky, Ilan, Tur-Kaspa, Anver, Kuliev   +7 more
openaire   +2 more sources