Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
Dental maturity in children with cleft lip and palate compared with children without cleft lip and palate living in the Western Region of Saudi Arabia. [PDF]
J Orthod SciAlswajy WA, Alsulaimani FF.
europepmc +1 more source
Robin Sequence: From Dilemmas to Developing an Adaptable Standardized Stepwise Approach
Acta Paediatrica, Volume 114, Issue 8, Page 1760-1777, August 2025.ABSTRACT Aim To review the literature to identify key issues causing variation in clinical practice, assess the knowledge gap, and develop a standardised pathway for managing upper airway obstruction (UAO) in infants with Robin sequence (RS). Methods The tripartite framework of evidence‐based practice, which included a systematic review of the ...
Dimple Goel +5 more
wiley +1 more source
CLINICOSTATISTIC OBSERVATIONS ON THE PATIENTS OF CLEFT LIP AND CLEFT PALATE
, 1973 Chokudo Sujaku +6 more
openalex +2 more sources
Craniofacial integration and modularity in untreated cleft lip and palate. [PDF]
Clin Oral InvestigSumardi S +4 more
europepmc +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 199-205, August 2025.BMP2 haploinsufficiency is known to be associated with short stature, skeletal malformations, specific craniofacial traits and cardiac malformations. This study including individuals with predicted BMP2 haploinsufficiency provides additional insight regarding less established and sometimes controversial phenotypes such as degree of developmental delay,
Elin Stavrén‐Eriksson +5 more
wiley +1 more source
A Preliminary Report on Cleft Deformities of the Face and associated Anomalies in Abha, Saudi Arabia [PDF]
Cleft deformities of the face are one of the major congenital anomalies seen in our environment. There is a dearth of data from this major Southern city of Saudi Arabia on the incidence of the deformities and associated anomalies.
AlMohy, Ahmad +4 more
core +1 more source
Dental Traumatology, Volume 41, Issue 4, Page 427-436, August 2025.ABSTRACT Background/Aim The use of AI‐driven chatbots for accessing medical information is increasingly popular among educators and students. This study aims to assess two different ChatGPT models—ChatGPT 3.5 and ChatGPT 4.0—regarding their responses to queries about traumatic dental injuries, specifically for dental students and professionals ...
Zeynep Öztürk +2 more
wiley +1 more source
Nasolabial shape and aesthetics in patients with cleft lip and palate: analysis of 3D facial images. [PDF]
Eur J OrthodSchmutz S +3 more
europepmc +1 more source
A Scoping Review of the Quality of Orthodontic Information on YouTube
Orthodontics &Craniofacial Research, Volume 28, Issue 4, Page 605-626, August 2025.ABSTRACT YouTube is among the most popular social media platforms globally. The aim of this scoping review was to collate and synthesise the evidence related to the quality of information (QOI) about orthodontic‐related videos uploaded to YouTube. The preferred reporting items for systematic reviews and meta‐analyses extension for scoping reviews ...
Maurice J. Meade +2 more
wiley +1 more source