Results 41 to 50 of about 24,789 (220)

STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]

, 2017
The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +2 more sources

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population.

Journal of Biochemical and Clinical Genetics, 2019
Background: Couples who are at risk for having an infant with a serious genetic disorder can benefit from pre-implantation genetic diagnosis (PGD), but many couples still opt for the riskier pre-natal diagnosis (PND). Although couples make this decision
Fawz AlHarthi, Moeen Al Sayed, Ahmed Yaqinuddin, Gulsan Abubakar Karbani, Ameera Salem Blobaid, Monika Maya Wahi   +5 more
doaj   +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 ...
Andrew Barker, Andrew Benner, Garry Cutting, Kevin Richter, Khanh-Ha Nguyen, Paul Brezina, Raymond Anchan, Ric Ross, William Kearns   +8 more
core   +1 more source

Endometrial stromal cells of women with recurrent miscarriage fail to discriminate between high- and low-quality human embryos [PDF]

, 2012
Background The aetiology of recurrent miscarriage (RM) remains largely unexplained. Women with RM have a shorter time to pregnancy interval than normally fertile women, which may be due to more frequent implantation of non-viable embryos.
AJ Wilcox, AM Musters, Annemieke Kavelaars, B Gellersen, Birgit Gellersen, Charlotte H. E. Weimar, Cobi J. Heijnen, Cornelis B. Lambalk, CW Redman, DK Gardner, E Vanneste, EB Baart, G Teklenburg, G Teklenburg, GM Stirrat, H Carp, HJ Leese, HJ Leese, HM Picton, IC Lakovschek, Jan J. Brosens, JD Aplin, JL Evers, Johanna M. T. de Vreeden-Elbertse, M Bielanska, M Gonzalez, M Salker, N Mansouri-Attia, Nick S. Macklon, NS Macklon, PJ Stokes, R Rai, RM Popovici, S Grewal, S Grewal, S Quenby   +35 more
core   +3 more sources

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Supporting couples with polycystic kidney disease in a medically assisted reproduction process

Giornale di Clinica Nefrologia e Dialisi
Preimplantation diagnosis process for couples with polycystic kidney disease involves several steps: genetic and gynecological counseling, in vitro fertilization (IVF/ICSI), embryo biopsy, genetic analysis, selection of healthy embryos and implantation.
Daniela Zuccarello, Claudia Livi, Valentina Zicaro, Sara Communci, Ludovica Picchetta   +4 more
doaj   +1 more source

Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang, Yung-Liang Liu, Chi-Huang Chen   +2 more
doaj   +1 more source

PROBLEMS OF LEGAL REGULATION OF THE PROTECTION OF GENETIC INFORMATION OBTAINED BY METHODS OF PREIMPLANTATION AND PRENATAL GENETIC DIAGNOSIS, IN THE RUSSIAN FEDERATION

Правовое государство: теория и практика, 2022
In the context of the active development of the areas defined by the Concept of Predictive, Preventive and Personalized Medicine, genodiagnostics, applied at the stage of family planning, is of particular importance.
AKHTYAMOVA Evgeniya Viktorovna, ALSYNBAEVA Elvira Makhamatovna, MASALIMOVA Albina Almazovna   +2 more
doaj   +1 more source