Results 171 to 180 of about 34,364 (292)

Schinzel-Giedion Syndrome in One of Dizygotic Twins: Confirmation of a De Novo SET Binding Protein 1 (SETBP1) Variant and Classic Multisystem Phenotype. [PDF]

Cureus
Thanugundla SR, Kothakapa SL, Ramireddy S, Chittireddy S, Krishna PV.   +4 more
europepmc   +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

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case. [PDF]

Clin Case Rep
Verdi G, Foksinska A, Nichols EL, Schmit EO, Watson A, Eckenrode M, Robin NH.   +6 more
europepmc   +1 more source

Examining Laterality in Masticatory Myofascial Pain

Journal of Oral Rehabilitation, EarlyView.
Objective: To characterize and compare unilateral and bilateral Masticatory Myofascial Pain (MMP) in a clinical cohort. Methods: Patients with MMP according to the RDC‐TMD were recruited over a 2‐year period. Data were analysed with univariable analyses followed by a binary logistic regression model, with pain laterality as the dependent variable ...
Rafael Benoliel, Yaron Haviv, Shai Levi, Galit Almoznino, Andra Rettman, Yair Sharav   +5 more
wiley   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Clinical application of additive manufacturing in maxillofacial prosthetics: A scoping review

Journal of Prosthodontics, EarlyView.
Abstract Purpose Digital workflows provide significant advances in prosthodontics, especially in terms of accuracy, reduced treatment duration, and quality of life. Moreover, additive manufacturing (AM) is particularly adapted for the fabrication of personalized complex prototypes required for the prosthetic rehabilitation of maxillofacial defects ...
Hélène Magro, Adrien Laran, Adrien Naveau   +2 more
wiley   +1 more source

Semilobar holoprosencephaly associated with maternal diabetes in a toddler: A case report. [PDF]

Radiol Case Rep
Çelik C, Mirre F, İbrahim İG.
europepmc   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities. [PDF]

Int J Oral Sci
Huang Z, Cui Y, Zhang W, Shen J, Dai Q, Sun S, Jiang L.   +6 more
europepmc   +1 more source

Harnessing the Therapeutic Potential of Cell Secretomes and Extracellular Vesicles for Craniofacial Regenerative Applications

Journal of Periodontal Research, EarlyView.
The scoping review summarizes the current preclinical and clinical evidence for the use of “cell‐free” therapies in craniofacial (periodontal, bone and soft‐tissue) regeneration. It also aims to highlight key challenges and strategies towards the clinical translation of these therapies.
Siddharth Shanbhag, Magdalena Mayol, Danijel Domic, Madhusudhan Reddy Bobbili, Johannes Grillari, Mariano Sanz, Reinhard Gruber   +6 more
wiley   +1 more source