Results 51 to 60 of about 3,147 (209)

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 650-658, May 2026.
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

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Targeting IspD for Anti-infective and Herbicide Development: Exploring Its Role, Mechanism, and Structural Insights. [PDF]

J Med Chem
Antimicrobial resistance (AMR) and herbicide resistance pose threats to society, necessitating novel anti-infectives and herbicides exploiting untapped modes of action like inhibition of IspD, the third enzyme in the MEP pathway.
Willocx D, Diamanti E, Hirsch AKH.
europepmc   +2 more sources

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies [PDF]

, 2013
Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular ...
Kamynina, A, Herrmann, Ralf, Moore, Steven A, Muntoni, Francesco, Campbell, KP, Michele, DE, Sewry, CA, Plagnol, Vincent, Roper, Helen, Vondracek, Petr, Marrosu, G, Herrmann, R, Brodd, L, Moore, SA, Michele, Daniel E, Yau, Shu, Hurles, M, Nürnberg, P, Yau, S, Torelli, Silvia, Longman, Cheryl, Nürnberg, Peter, Vondracek, P, Roper, H, Voit, T, Cirak, S, Voit, Thomas, Sewry, Caroline A, Korinthenberg, R, Torelli, S, Stevens, Elizabeth, Foley, AR, Willer, T, Muntoni, F, Kamynina, Alisa, Plagnol, V, Foley, Aileen Reghan, Hurles, Matt, Campbell, Kevin P, Brodd, Lina, Longman, C, Cirak, Sebahattin, Marrosu, Gianni, Korinthenberg, Rudolf, Stevens, E, UK10K Consortium, Willer, Tobias   +46 more
core   +1 more source

Peritoneal catheter infections : data from the French language peritoneal dialysis registry (RDPLF), risk factors

Bulletin de la Dialyse à Domicile, 2019
Peritoneal catheter infections : data from the French language peritoneal dialysis registry (RDPLF), risk factors The French Language Peritoneal Dialysis Registry (RDPLF) record since 1997 all data dealing with peritoneal catheter insertion and follow
Isabelle Vernier, Emmanuel Fabre, Max Dratwa, Christian Verger   +3 more
doaj   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Ranking Departments based on research quality: a statistical evaluation of the ISPD indicator [PDF]

Given the relevance of performance-based funding for the Italian University System, in this paper, we analyse the statistical properties of the ISPD indicator used to provide a ranking of the best 180 Italian Departments.
federica galli, fedele greco
core   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 904-913, May 2026.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome

, 2013
Walker-Warburg syndrome (WWS) is a severe muscular dystrophy with eye and brain malformations. On a molecular level, WWS is a disorder of the O-linked glycosylation of alpha-dystroglycan and therefore referred to as one of the dystroglycanopathies.
Czeschik, Johanna Christina, Rosenbaum, Thorsten, Wieczorek, Dagmar, Hehr, Ute, Hartmann, Britta, Schweiger, Bernd, Lüdecke, Hermann-Josef   +6 more
core   +1 more source

An Effective Routability-driven Placer for Mixed-size Circuit Designs [PDF]

, 2013
We propose a routability-driven analytical placer that aims at distributing pins evenly. This is accomplished by including a group of pin density constraints in its mathematical formulation.
Li, Shuai, Koh, Cheng-Kok
core   +1 more source