Results 71 to 80 of about 24,363 (274)

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

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

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

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands [PDF]

, 2017
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND).
Die-Smulders, C. (Christine) de, Dommering, C.J. (Charlotte), Henneman, L. (Lidewij), Hogervorst, F.B.L. (Frans), Hout, A.H. (Annemarie) van der, Jonker, M.A. (Marianne), Luijt, R.B. (Rob) van der, Meijers-Heijboer, E.J. (Hanne), Mensenkamp, A.R. (Arjen R.), Moll, A.C. (Annette), Ouweland, A.M.W. (Ans) van den, Redeker, E.J.W. (Egbert), Tops, C. (Carli)   +12 more
core   +1 more source

Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology

Developmental Dynamics, EarlyView.
Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley   +1 more source

Preimplantation Genetic Testing in the 21st Century: Uncharted Territory

Clinical Medicine Insights: Reproductive Health, 2013
The past hundred years have given birth to arguably the most profound changes in society, medicine, and technology the world has ever witnessed. Genetics is one such field that has enjoyed a meteoric rise during this time.
Paul R. Brezina MD, MBA
doaj   +2 more sources

What role should public opinion play in ethico-legal decision making?:the example of selecting sex for non-medical reasons using preimplantation genetic diagnosis [PDF]

, 2016
In this article we consider the prohibition on the use of preimplantation genetic diagnosis to select an embryo on the basis of its sex for non-medical reasons.
Bennett, Rebecca, Fovargue, Sara Jane
core   +2 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 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

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source