Results 61 to 70 of about 449,800 (228)

SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing

Scientific Reports, 2023
Recent advances in genomic technologies expand the scope and efficiency of preimplantation genetic testing (PGT). We previously developed Haploseek, a clinically-validated, variant-agnostic comprehensive PGT solution.
Daniel Backenroth, G. Altarescu, F. Zahdeh, Tzvia Mann, Omer Murik, P. Renbaum, R. Segel, S. Zeligson, Elinor Hakam-Spector, S. Carmi, D. Zeevi   +10 more
semanticscholar   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Non-invasive preimplantation genetic testing for aneuploidy: is the promise real?

Human Reproduction
Recent advances in preimplantation genetic testing for aneuploidy (PGT-A) have significantly enhanced its application in ART, providing critical insights into embryo viability, and potentially reducing both the time spent in fertility treatments and the ...
Michelle Volovsky, Richard T. Scott, E. Seli   +2 more
semanticscholar   +1 more source

Role of NPPB for recovery post ventricular assist device in paediatric dilated cardiomyopathy: Single‐cell multiomics

ESC Heart Failure, EarlyView.
This study investigated factors associated with left ventricular recovery after LVAD implantation in paediatric dilated cardiomyopathy. Patients were classified into recovery and non‐recovery groups. Single‐nucleus sequencing revealed higher NPPB expression and altered apoptosis‐related pathways in the recovery group.
Yosuke Kugo, Takuji Kawamura, Akima Harada, Yuji Tominaga, Kenji Miki, Hidekazu Ishida, Takayoshi Ueno, Shigeru Miyagawa   +7 more
wiley   +1 more source

Preimplantation genetic testing for sickle cell disease: a cost-effectiveness analysis

F&S Reports, 2023
Objective: To evaluate the cost-effectiveness of in vitro fertilization with preimplantation genetic testing for monogenic disease (IVF + PGT-M) in the conception of a nonsickle cell disease (non-SCD) individual compared with standard of care treatment ...
Joshua C. Combs, M.D., Maura Dougherty, M.S., Meghan U. Yamasaki, D.O., Alan H. DeCherney, M.D., Kate M. Devine, M.D., Micah J. Hill, D.O., Erin Rothwell, Ph.D., Jeanne E. O'Brien, M.D., Richard E. Nelson, Ph.D.   +8 more
doaj   +1 more source

Preimplantation genetic testing: A remarkable history of pioneering, technical challenges, innovations, and ethical considerations

Molecular Reproduction and Development
Preimplantation genetic testing (PGT) has emerged as a powerful companion to assisted reproduction technologies. The origins and history of PGT are reviewed here, along with descriptions of advances in molecular assays and sampling methods, their ...
Keith E Latham
semanticscholar   +1 more source

Reproductive history does not compromise subsequent live birth and perinatal outcome following in‐vitro fertilization: analysis of 25 329 first frozen–thawed embryo transfer cycles without preimplantation genetic testing for aneuploidy

Ultrasound in Obstetrics and Gynecology, 2023
To investigate the effect of women's reproductive history on live‐birth rate and perinatal outcome after first frozen–thawed embryo transfer (FET) without preimplantation genetic testing for aneuploidy.
D. Chen, X. Q, X. Mao, J. Zhang, WU L., Original Paper   +5 more
semanticscholar   +1 more source

A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci, Sofia Ceffa, Sartor Giovanna, Maria Gnazzo, Antonio Novelli, Antonio La Marca   +5 more
wiley   +1 more source

Six Hundred and Sixty Nanometer Light Exposure‐Induced Alterations in Actin Filament, Mitochondrial Morphological Dynamics, and Migration in Mesenchymal Stem Cells

Journal of Biophotonics, EarlyView.
Six hundred and sixty nanometer light‐induced alteration of actin filament cytoskeleton, mitochondrial morphological dynamics, and enhanced migration in adipose‐derived mesenchymal stem cells. ABSTRACT Actin cytoskeleton alteration and cell homing/migration are crucial determinants for the success of stem cell (SC) based therapy.
Mahima Rastogi, Khageswar Sahu, Shovan Kumar Majumder   +2 more
wiley   +1 more source

Preimplantation genetic testing: Its evolution, where are we today?

Journal of Human Reproductive Sciences, 2018
Preimplantation genetic testing (PGT) is an early form of prenatal genetic diagnosis where abnormal embryos are identified, thereby allowing transfer of genetically normal embryos.
Firuza Rajesh Parikh, Arundhati Sitaram Athalye, Nandkishor Jagannath Naik, Dattatray Jayaram Naik, Rupesh Ramesh Sanap, Prochi Fali Madon   +5 more
doaj   +1 more source