Results 101 to 110 of about 48,714 (242)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

Prenatal Diagnosis, EarlyView.
Edouard Leyne, Jelena Martinovic, Peter Kamenický, Agnès Linglart, Julien Saada, Alexandra Benachi, Alexandre J. Vivanti, Jérôme Bouligand   +7 more
wiley   +1 more source

Unravelling the Genetic Mechanisms of Litter Traits in a Maternal Line of Pigs

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT Reproductive traits related to litter size are the main indicators of reproductive efficiency in pig production and are continuously evaluated for the selection of maternal lines. Several environmental and genetic factors are involved with the development of these traits.
Guilherme Oselame, Suelen Fernandes Padilha, Maurício Egídio Cantão, Jane de Oliveira Peixoto, Aline Zampar, Adriana Mércia Guaratini Ibelli, Luis Orlando Duitama Carreño, Jader Silva Lopes, Pedro Henrique Ferreira Freitas, Marcelo Silva Freitas, Mônica Corrêa Ledur   +10 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Stem Cells From Dental Pulp, Periodontal Tissues, and Other Oral Sources: Biological Concepts and Regenerative Potential

Journal of Periodontal Research, EarlyView.
A graphical abstract recapping the different sources of dental, periodontal, and other oral‐derived mesenchymal stromal cells (MSCs) and their regenerative mechanisms and potentials. The review's article findings bridge fundamental biological science with translational advances, highlighting the significance of MSCs in craniofacial regenerative ...
Karim M. Fawzy El‐Sayed, Sara El Moshy, Israa Ahmed Radwan, Dina Rady, Aiah A. El‐Rashidy, Marwa M. S. Abbass, Christof E. Dörfer   +6 more
wiley   +1 more source

Population Pharmacokinetics of Sildenafil in Dogs With Naturally Occurring Pulmonary Hypertension

Journal of Veterinary Pharmacology and Therapeutics, EarlyView.
ABSTRACT The pharmacokinetics of sildenafil are ill‐defined in dogs with naturally occurring pulmonary hypertension (PH). Because the plasma concentrations of sildenafil have not been reported for dogs with this disease, this study aimed to describe the population pharmacokinetics of sildenafil in a sample of dogs with PH. Twenty client‐owned dogs with
Mariko Yata, Teresa C. DeFrancesco, John D. Bonagura, Mark G. Papich   +3 more
wiley   +1 more source

‘You can't have an ego in this game’: A simulation primed qualitative inquiry of team reflection in paediatrics

Medical Education, EarlyView.
Abstract Introduction Acute care paediatric teams face ambiguous, dynamic patient care situations that demand adaptability to avoid patient harm. Team huddles and adaptation processes have shown promise in mitigating risk and reducing harm. One team process that may occur in huddles is team reflection (TR), defined as a team's capacity to consciously ...
Rustin Meister, Mary E. McBride, Jan B. Schmutz, Mark Adler, Walter Eppich   +4 more
wiley   +1 more source

Gestational Diabetes Mellitus and Adverse Maternal and Neonatal Health Outcomes: an Umbrella review of Meta‐Analyses

Obesity Reviews, EarlyView.
ABSTRACT Introduction This study systematically synthesized evidence on adverse health outcomes related to gestational diabetes mellitus (GDM) via an umbrella review with integrated meta‐analyses. Methods The search covered publications from the database (PubMed/MEDLINE, Google Scholar, Embase, and CINAHL) inception to August 12, 2024. Meta‐analyses of
Jiseung Kang, Hyeon Jin Kim, Yeona Jo, Kathryn J. Smith, Arianna R. S. Lark, Fayaz A. Mir, Jaeyu Park, Hayeon Lee, Yumin Kim, Masoud Rahmati, Lee Smith, Sang Youl Rhee, Yejun Son, Dong Keon Yon, Christa J. Nehs   +14 more
wiley   +1 more source