Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 12 of 12 for “"Craniofacial Abnormalities"”.
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Potential roles for Elf3 in fetal alcohol spectrum disorder and development
… alcohol exposure. It is characterized by craniofacial abnormalities, growth retardation, central nervous system defects, learning disabilities and a variety of other minor defects. Even though it affects 2-5% of individuals born every year, very little is known about the mechanisms that …
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Dissecting the role of AUTS2 and GALNT17 in neurodevelopment using a mouse model for human AUTS2 syndrome
… difficulties, epilepsy, microcephaly, and craniofacial abnormalities. Moreover, the severity of each of these phenotypes in individual ASD patients varies dramatically, because most ASD cases are multigenic, involving mutations in a wide variety of heterogenous genes; many cases involve …
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Bmp-Signaling Regulates A Common Transcriptional Program to Control Facial Form and Skeletal Morphogenesis
<p>Much of the craniofacial skeleton, such as the skull vault, mandible and midface, develops through direct, intramembranous ossification of the cranial neural crest (CNC) derived progenitor cells. Bmp-signaling plays critical roles in normal craniofacial development, and Bmp4 deficiency results …
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The Mechanism of Obesity in Rai1+/- Mice
… is characterized by cognitive impairment, craniofacial abnormalities, sleep disturbances, developmental delay, obesity, and behavioral phenotypes. SMS is thought to affect 1:25,000 live births, although due to similar infantile phenotypes with Down syndrome and Prader-Willi syndrome, SMS …
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MyosinX is Required For Craniofacial Development in Danio Rerio
<p>Craniofacial development is the process of laying early cartilage and bone patterns in the anterior region of the embryo, which ultimately results in shaping the structure of the face and head of an organism. Craniofacial abnormalities in humans, such as cleft lip and palate, are among the most …
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Characterization of the TCOF1 Gene Using a Neuroblastoma Cell Line and a Mouse Model
… Collins syndrome (TCS) is an autosomal dominant craniofacial development disorder and is caused by mutations in the TCOF1 gene. The TCOFl protein treacle is a nucleolar protein and may function in ribosome biogenesis.Previously, we identified downstream candidate genes using microarray analysis …
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HAPLOINSUFFICIENCY OF RAI1 AND ITS EFFECT ON BDNF EXPRESSION
… has been well described and includes minor craniofacial anomalies, self-injurious behaviors as well as sleep disturbances, speech delays, and obesity [1,2,3]. The incidence of SMS is estimated to be ~ 1:15,000 - 25,000 births [2,6]. Among SMS patients, ~90% are comprised of 17p11.2 …
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The role of AUTS2 in neurodevelopment and neurological disease
… found in AUTS2- related syndromes, including craniofacial abnormalities, seizures, repetitive behaviors, and changes in alcohol preference. In addition, 16Gso mutants show reduced activity, as well as an inability to regulate movement in stressful novel environments such as the elevated plus …
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Effects of Surgical Intervention on Parent Reported Quality of Life in Children and Adolescents with Craniofacial Conditions
… of life pre- and post-surgery in children with craniofacial conditions. Many psychosocial difficulties associated with craniofacial conditions have been identified in the literature; however, research has not yet looked specifically at parent reports of patients’ quality of life and psychosocial …
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Skeletal muscle weakness and mitochondrial dysfunction in the osteogenesis imperfecta murine (oim) model
… complications, short stature, and craniofacial abnormalities are also common. There is currently no cure for OI and therapeutic options rely on mitigating symptoms, primarily through the use of bone anti-resorptive agents referred to as bisphosphonates. Although, current treatment …
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A Study of Craniofacial Growth in Infant Heart Transplant Recipients Receiving Cyclosporine
… implicated cyclosporine as adversely affecting craniofacial growth in the pediatric population. The purpose of this study was to evaluate the possible untoward effects of cyclosporine long-term on craniofacial growth in a group of infant heart transplantation recipients. A prospective group …
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A Continued Investigation of Craniofacial Growth in Infant Heart Transplant Recipients Receiving Cyclosporine
… implicated cyclosporine as adversely affecting craniofacial growth in the pediatric population. The purpose of this follow-up study was to continue to evaluate the possible untoward effects of long-term use of cyclosporine on craniofacial growth in a group of infant heart transplantation …