Results 181 to 190 of about 3,488,718 (338)

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

Redefining the role of exercise: beyond medicine and polypill. [PDF]

EXCLI J
Khoramipour K, López-Ortiz S, Santos-Lozano A.   +2 more
europepmc   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Fetal rights from Islamic and contemporary legal perspectives: a scoping review. [PDF]

Reprod Health
Kakrodi SP, Sighaldeh SS, Mosadeghrad MA, Abbassi M.   +3 more
europepmc   +1 more source

Reproductive Decision‐Making Among BRCA1/2 Pathogenic Variants Carriers and Physicians: Attitudes Toward Preimplantation and Prenatal Genetic Testing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The objective of this paper is to investigate the knowledge and attitudes of BRCA1/2 pathogenic variant carriers and gynecologists regarding preimplantation genetic tests for monogenic diseases (PGT‐M) and prenatal diagnosis (PND).
Marta D'Alonzo, Silvia Actis, Giulia Lavalle, Simona Suraci, Luca Pace, Valentina Elisabetta Bounous, Annamaria Ferrero   +6 more
wiley   +1 more source

The History of the Panmictic Population Concept and Its Legacy in Contemporary Population Genetics. [PDF]

Ann Hum Genet
Walton A, Aylward A, Thomas MG, Rutherford A.   +3 more
europepmc   +1 more source

Association between food insecurity and intimate partner violence: the role of gendered asset policies. [PDF]

BMJ Glob Health
Miller F, Mannell J, Brown L, Gibbs A, Hatcher A.   +4 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

Rift linkage and inheritance determine collisional mountain belt evolution. [PDF]

Nat Commun
Wolf SG, Huismans RS, Muñoz JA, May DA.
europepmc   +1 more source

Cationic‐Hydrophilic Di‐Block Copolymers: Surface‐Shielded Vectors for Gene Delivery

Journal of Polymer Science, Volume 63, Issue 6, Page 1419-1432, 15 March 2025.
This study develops synthetic polycationic di‐block carriers for nucleic acid (NA) delivery in gene therapy. Consisting of a cationic block and a hydrophilic block, these carriers efficiently form complexes with NAs and shield them with a protective bioinert layer, enhancing stability during circulation in the bloodstream while reducing undesirable ...
Eliška Hrdá, Ladislav Androvič, Marcela Filipová, Michal Pechar, Richard Laga   +4 more
wiley   +1 more source