Results 91 to 100 of about 361,282 (269)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Effect of Staining and External Bleaching on the Color Stability and Surface Roughness of Universal-Shade Resin-Based Composite

Clinical, Cosmetic and Investigational Dentistry
AlHanouf AlHabdan,1 Amal Alsuhaibani,2 Lama Alomran,2 Lulwah Almutib2 1Department of Restorative Dental Sciences, King Saud University, Riyadh, Saudi Arabia; 2College of Dentistry, King Saud University, Riyadh, Saudi ArabiaCorrespondence: AlHanouf ...
AlHabdan A, Alsuhaibani A, Alomran L, Almutib L   +3 more
doaj  

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Association of Periapical Status of Endodontically Treated Teeth with Restoration and Root Canal Filling Quality [PDF]

, 2019
Nasrin Roghanizad, Negin Omatali, AA Moshari, M Sadaghiani, Mohammad Hassan Kalantari, Dentist   +5 more
openalex   +1 more source

Modeling chronic periodontitis in rats: Persistent alveolar bone loss mediated by periodontal pathogens

Animal Models and Experimental Medicine, EarlyView.
Irrigation of periodontal pockets with human periopathogens, in combination with a 14‐day ligature‐induced periodontitis protocol, significantly enhances alveolar bone loss and sustains bacterial colonization for up to 28 days following ligature removal, thereby more closely replicating the chronic nature of human periodontitis compared to the ligature
Maksym Skrypnyk, Chun Xu, Shlomo Berkovsky, Thilini Jayasinghe, Axel Spahr   +4 more
wiley   +1 more source

A novel inhaled anesthesia technique for concurrent direct laryngoscopy in rats

Animal Models and Experimental Medicine, EarlyView.
Our novel nose cone anesthetic technique allows the use of gas anesthesia during concurrent direct laryngoscopy. Inhaled anesthesia not only has a better safety profile for rats, but also increases lab efficiency when compared to injectable anesthesia. Abstract The current anesthetic standard for laryngoscopy in rats utilizes injectable intraperitoneal
Corinne Negvesky, Amin Mirzaaghasi, Eric M. Smith, Ashley E. Kita   +3 more
wiley   +1 more source

Periodontal healing after replantation of traumatically avulsed human teeth: Assessment by mobility testing and radiography

, 1975
Jens Ove Andreasen
openalex   +1 more source

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

Annals of Neurology, EarlyView.
rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury. However, loss of NF2 leads to a reduction in NRGβ1‐expression and increased ErbB2 levels on Schwann cells (in green), which contributes to schwannoma ...
Julia P. Bischoff, Alexander Schulz, Christian Hagel, Robert Büttner, Michael Reuter, Waylan K. Bessler, D. Wade Clapp, Helen Morrison   +7 more
wiley   +1 more source

Clinical and radiological evaluation of Inverse impaction of supernumerary teeth

, 2013
EB Tuna, Esma Kürklü, Koray Gençay, Gülsüm Ak   +3 more
openalex   +1 more source