Results 1 to 10 of about 34,364 (292)

Prenatal ultrasonography of craniofacial abnormalities [PDF]

open access: yesUltrasonography, 2019
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies ...
Annisa Shui Lam Mak, Kwok Yin Leung
doaj   +6 more sources

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

open access: yesInternational Journal of Molecular Sciences, 2023
Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems.
Yanli Zhang, Xiaohong Duan, Xu Yali
exaly   +4 more sources

Craniofacial abnormalities among patients with Edwards Syndrome [PDF]

open access: yesRevista Paulista de Pediatria, 2013
OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a ...
Rafael Fabiano M. Rosa   +5 more
doaj   +5 more sources

Riboceine Rescues Auranofin-Induced Craniofacial Defects in Zebrafish

open access: yesAntioxidants, 2021
Craniofacial abnormalities are a common group of congenital developmental disorders that can require intensive oral surgery as part of their treatment. Neural crest cells (NCCs) contribute to the facial structures; however, they are extremely sensitive ...
Megan Leask   +6 more
doaj   +4 more sources

in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism [PDF]

open access: yesBiol Open, 2023
Intellectual disability is a neurodevelopmental disorder that affects 2-3% of the general population. Syndromic forms of intellectual disability frequently have a genetic basis and are often accompanied by additional developmental anomalies.
James A. J. Fitzpatrick   +17 more
core   +2 more sources

High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

open access: yesCell Reports, 2018
Summary: Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within ...
Andrea Wilderman   +4 more
doaj   +2 more sources

Dithiocarbamates Induce Craniofacial Abnormalities and Downregulate sox9a during Zebrafish Development

open access: yesToxicological Sciences, 2010
Dithiocarbamates (DTCs) have a wide variety of applications in diverse fields ranging from agriculture to medicine. DTCs are teratogenic to vertebrates but the mechanisms by which they exert these effects are poorly understood.
Antonius Leonardus Van Boxtel   +2 more
exaly   +2 more sources

Tcof1 /Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2006
Neural crest cells are a migratory cell population that give rise to the majority of the cartilage, bone, connective tissue, and sensory ganglia in the head.
Lisa L Sandell   +2 more
exaly   +2 more sources

Craniofacial abnormalities induced by retinoic acid: a preliminary histological and scanning electron microscopic (SEM) study

open access: yesExperimental and Toxicologic Pathology, 2000
Exogenous retinoic acid has been found to be teratogenic in animals and man. Craniofacial defects induced by retinoic acid have stimulated considerable research interest.
M Goret-Nicaise   +2 more
exaly   +2 more sources

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

open access: yesHuman Genome Variation
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with ...
Namiki Nagata   +14 more
doaj   +2 more sources

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