Results 1 to 10 of about 6,657 (132)
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review. [PDF]
Mol Genet Genomic MedThis study presents a 25‐year‐old female with global developmental delay, dysmorphic features, and a complex phenotype arising from co‐occurring chromosomal anomalies: a 6 Mb 10p15.3p14 microdeletion involving the ZMYND11 gene and a 7.6 Mb 7p22.3p21.3 microduplication.
Minale EMP +11 more
europepmc +2 more sources
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
Hypertrichosis and Diabetes [PDF]
The Journal of Nervous and Mental Disease, 1922 n ...
Weil, E., Plichet,
openaire +1 more source
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Kaposiform hemangioendothelioma: Diagnosis and treatment
Pediatric Investigation, EarlyView.Vascular endothelial growth factor‐C (VEGF‐C)/vascular endothelial growth factor receptor‐3 (VEGFR‐3) and angiopoietin‐2 (Ang‐2)/tyrosine kinase with immunoglobulin‐like and EGF‐like domain 2 (TIE2) signaling pathways play an important role in lymphangiogenesis.
Yi Tian +5 more
wiley +1 more source
Clinical Genetics, EarlyView.We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon +9 more
wiley +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.Summary Background and Objectives Teledermatology has become an essential part of dermatological care, although challenges in its implementation remain. We conducted a real‐life survey on video consultations over a one‐year period to assess satisfaction and identify barriers.
Felix von Krogh +4 more
wiley +1 more source
Equine Veterinary Education, EarlyView.Summary Background The diagnosis and management of pituitary pars intermedia dysfunction (PPID) in horses includes evaluating abnormal plasma concentrations of adrenocorticotrophic hormone (ACTH). Treatment commonly includes the oral dopamine agonist pergolide mesylate, which suppresses the pathologic overproduction of ACTH.
A. Bracken +5 more
wiley +1 more source