Results 41 to 50 of about 24,692 (232)

Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies.
Tsung-Ying Ou, Meng-Che Tsai, Pao-Lin Kuo, Ni-Chung Lee, Yen-Yin Chou   +4 more
doaj   +1 more source

Pre-implantation genetic diagnosis and pre-implantation genetic screening: two years experience at a single center [PDF]

Obstetrics & Gynecology Science, 2018
ObjectiveIndications for preimplantation genetic diagnosis (PGD)/preimplantation genetic screening (PGS) cycles and clinical outcomes were evaluated at CHA Gangnam Medical Center.MethodsThis is retrospective cohort study.
Se Yeon Won, Hannah Kim, Woo Sik Lee, Ji Won Kim, Sung Han Shim   +4 more
doaj   +1 more source

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

A Subset of Pro‐inflammatory CXCL10+ LILRB2+ Macrophages Derives From Recipient Monocytes and Drives Renal Allograft Rejection

Advanced Science, EarlyView.
This study uncovers a recipient‐derived monocyte‐to‐macrophage trajectory that drives inflammation during kidney transplant rejection. Using over 150 000 single‐cell profiles and more than 850 biopsies, the authors identify CXCL10+ macrophages as key predictors of graft loss.
Alexis Varin, Jovanne Palvair, Lennie Messager, Jamal Bamoulid, Jasper Callemeyn, Mélanie Chaintreuil, Ludivine Dal Zuffo, Didier Ducloux, Imane Farhat, Mathieu Legendre, Laurent Martin, Florian Renosi, Xavier Roussel, Thibaut Vaulet, Maarten Naesens, Claire Tinel, Baptiste Lamarthée   +16 more
wiley   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 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 ...
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

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

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

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

Scalp‐negative medial temporal interictal epileptic discharges alter large‐scale brain networks: A simultaneous high‐density electroencephalographic and intracranial electroencephalographic study

Epilepsia, EarlyView.
Abstract Objective Interictal epileptiform discharges (IEDs) observed on scalp electroencephalography (EEG) serve as a diagnostic hallmark of epilepsy. However, only a small fraction of IEDs recorded by intracranial EEG (iEEG) are detectable on the scalp; the vast majority remain invisible on scalp recordings.
Nicolas Roehri, Pia De Stefano, Laurent Spinelli, Renaud Marquis, Stanislas Lagarde, Shahan Momjian, Margitta Seeck, Serge Vulliemoz   +7 more
wiley   +1 more source