Results 71 to 80 of about 2,212,500 (210)

Chromosome segregation and recombination in human meiosis: Clinical applications and insight into disjunction errors [PDF]

, 2015
Chromosome copy number errors (or aneuploidy) of gametes and embryos occurs in humans more frequently than in any other studied species, with a spectrum of manifestations from implantation failure to affected live births.
Ottolini, Christian Simon, The Bridge Centre Ltd, UK   +1 more
core  

Preimplantation genetic testing for aneuploidy in patients of different age: a systematic review and meta-analysis [PDF]

Obstetrics & Gynecology Science
This study aimed to summarize the current knowledge on the benefits of In vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic testing for aneuploidy (PGT-A) and to discuss the role of PGT-A in patients of different ages ...
Leila Adamyan, Laura Pivazyan, Lilia Obosyan, Ekaterina Krylova, Sapiyat Isaeva   +4 more
doaj   +1 more source

Company‐Sponsored Fertility Benefits: A Gift‐Exchange and Contextual Intersectionality Informed “FAiRE” Framework Guiding Design and Implementation

Gender, Work &Organization, EarlyView.
ABSTRACT Managing the work‐fertility interface is a major challenge for organizations when implementing fertility policies. These policies cover a broad spectrum of areas including clinical treatments, preservation and storage of eggs and sperm, preimplantation and diagnostics, and non‐clinical family‐building assistance. They also differ from standard
Clíodhna MacKenzie, Thomas Garavan, Elaine O'Brien   +2 more
wiley   +1 more source

Whole genome amplification for PGD and PND; molecular and a-CGH diagnosis [PDF]

, 2009
Whole genome amplification amplifies the entire genome in a few hours from samples of minimal DNA quantities, even from single cells. This may have many applications, especially in prenatal diagnosis, PGD and PGS. The hypothesis for chapter 3 was: Can
Glentis, S.
core  

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  

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

Preimplantation genetic diagnosis (PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available.

, 2010
In severe forms of Diamond-Blackfan anemia, preimplantation genetic diagnosis (PGD) of histocompatibility leukocyte antigen-compatible embryos for enabling the next sibling in the family to be a stem-cell transplantation donor constitutes the sole ...
Hohlfeld, Patrick, Wunder-Galié, D., de Ziegler, Dominique, Von Der Weid, N., Bellavia, M., Liebaers, Inge, Jacquemont, S., Jacquemont, Sebastien, Wunder-Galié, Dorothea, Liebaers, I., Hohlfeld, P., Von Der Weid, Nicolas, Peddes, C., Bellavia, Marina, de Ziegler, D., Peddes, Christina   +15 more
core   +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

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Paul Brezina, Raymond Anchan, Kevin Richter, Ric Ross, Andrew Benner, William Kearns, Andrew Barker, Khanh-Ha Nguyen, Garry Cutting   +8 more
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