Results 61 to 70 of about 68,059 (240)
Breathing mode influence in craniofacial development
Brazilian Journal of Otorhinolaryngology, 2005 The aim of this study was to evaluate the differences in facial proportions of nose and mouth breathing children using cephalometric analysis.Transversal cohort.Sixty cephalometric radiographs from pediatric patients aged 6 to 10 years were used.
Lessa, Fernanda Campos Rosetti +5 more
openaire +2 more sources
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 +4 more
wiley +1 more source
Journal of Developmental Biology, 2016 Craniofacial defects (CFD) are a significant healthcare problem worldwide. Understanding both the morphogenetic movements which underpin normal facial development, as well as the molecular factors which regulate these processes, forms the cornerstone of ...
Sebastian Dworkin +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
Scientific ReportsPeriodontitis is a chronic inflammatory disease that leads to the destruction of periodontal tissue, ultimately resulting in tooth loss. Studies have aimed to develop biomaterials that effectively prevent inflammatory responses and oxidative stress in ...
Govinda Bhattarai +7 more
doaj +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso +14 more
wiley +1 more source
Anti-angiogenic effects of VEGF stimulation on endothelium deficient in phosphoinositide recycling
Nature Communications, 2020 Tumors can overproduce pro-angiogenic ligands overcoming currently approved anti-angiogenic therapies and hindering their success. Here, the authors show that targeting phosphoinositide recycling during tumor angiogenesis harnesses the tumor’s own ...
Amber N. Stratman +14 more
doaj +1 more source