Results 161 to 170 of about 9,507 (247)

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

Prenatal Diagnosis, EarlyView.
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

Dinoflagellate and ciliate trophic modes database. [PDF]

Microbiol Resour Announc
Jones EL, Menden-Deuer S, Rynearson TA.
europepmc   +1 more source

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

Prenatal Diagnosis, EarlyView.
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

Morphology and molecular phylogeny of <i>Monomicrocaryon trimarginalis</i> sp. nov. (Ciliophora, Hypotricha), a new soil ciliate species from South Korea. [PDF]

Zookeys
Chae KS, Min GS, Park KM.
europepmc   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +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

Gastrointestinal parasites in West African chimpanzees (Pan troglodytes verus) in Fongoli (Kedougou, Senegal). [PDF]

Primate Biol
Sy PM, N'da KM, Ndiaye PI, Gbati OB, Pruetz JD.   +4 more
europepmc   +1 more source

Recent Progress in Treating Airway Mucus Hypersecretion by Targeting the Epidermal Growth Factor Receptor Signaling Pathway

Pediatric Discovery, EarlyView.
ABSTRACT Asthma, chronic pulmonary obstructive disease (COPD), cystic fibrosis, and acute respiratory infections are severe respiratory conditions that significantly contribute to global morbidity and mortality. Airway mucus hypersecretion is an important common pathophysiological and clinical manifestation of these diseases and is closely associated ...
Yuanyuan Zhang, Fuping Yang, Chunyu Yan, Yu Deng, Enmei Liu   +4 more
wiley   +1 more source

A double agent? Unveiling the chemical profile of the pathogenic fungus <i>Pyrrhoderma noxium</i> as an endophyte in true mangroves. [PDF]

PeerJ
Han MH, Chang JS, Tan JK, Yeap SK, Ng WL, Yong YS.   +5 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source