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 10 of 10 for “"microdeletion"”.
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Neurophysiological and behavioural characterisation of a 16p11.2 microdeletion rat model of autism spectrum disorder
… intellectual disability. The effects of 16p11.2 microdeletion are highly variable and complex, as a result of the diversity of the 30 genes found at this locus. 16p11.2 deletion mice have shown deficits in a range of hippocampal and prefrontal-dependent behavioural paradigms, including those …
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High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders
… information is the search and description of new microdeletion/microduplication syndromes. Although most CNVs seemed to be scattered across the entire genome we were able to describe a new microdeletion syndrome characterized by osteopoikilosis, mental retardation and short stature. This …
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Uncovering the molecular pathways of MBD5 in neurodevelopmental disorders
… of chromosome 2q23.1, acquiring 65 subjects with microdeletion or translocation. We sequenced translocation breakpoints, aligned microdeletions to determine the critical region, assessed effects on mRNA expression, and examined medical records, photos, and clinical evaluations. We identified MBD5 …
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Obstetrician and Gynecologist Utilization of The Nipt Expanded Testing Option
… to screen for additional trisomies and select microdeletion syndromes, such as 22q11.2 deletion syndrome and 5 p- syndrome, became clinically available. Due to this rapidly evolving prenatal screening technology, clinicians must make a conscious effort to keep abreast of the current options; …
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Targeting troubled translation : investigating novel therapeutic targets in mouse models of fragile X and 16p1 1.2 deletion syndrome
… Finally, we show that a mouse model of 16p1 1.2 microdeletion disorder, a polygenic disorder known to confer risk for ASD and ID in humans, shares common features of synaptic dysfunction downstream of mGlu₅ with the Fmr KO mouse. Chronic administration of pharmaceutical agents previously shown to …
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MicroRNA Dysregulation in Neuropsychiatric Disorders and Cognitive Dysfunction
… - a rare copy number variant (CNV), 22q11.2 microdeletions, and a common single nucleotide polymorphism (SNP), BDNF Val66Met. 22q11.2 microdeletions result in specific cognitive deficits and high risk to develop schizophrenia. Analysis of Df(16)A+/- mice, which model this microdeletion, …
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Modeling Complex Neurological Disorders With Human Induced Pluripotent Stem Cells
… and HAND. First, we studied 22qDS, a hemizygous microdeletion that occurs at chromosome 22q11.2 and leads to complex neuropsychiatric phenotypes including SZ in 25% of 22qDS individuals. Since 6 of the 40 genes deleted in 22qDS encode for proteins that directly localize to mitochondria, we tested …
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Understanding Autism Pathology: Insights from Genetic Mouse Model Manipulation of KCTD13 and SHANK3
… idiopathic autism, Phelan-McDermid (aka 22q13 microdeletion) syndrome, and other neuropsychiatric disorders. We create a novel mouse model of human autism caused by the insertion of a single guanine nucleotide into exon 21 (Shank3G). The resulting frameshift causes a premature STOP codon and …
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Caratterizzazione molecolare delle delezioni parziali del gene DAZ: come e perchè
Lo studio delle cause genetiche di infertilità maschile derivanti da alterazioni cromosomiche, geniche e microdelezioni della regione AZF è ben standardizzato e le metodiche attualmente in uso sono sufficienti ad individuarle e caratterizzarle. Per quanto riguarda invece le delezioni parziali dei …
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An analysis of the phenotypic features of chromosomes 22q11.1 deletion syndrome at Red Cross War Memorial Children's Hospital
… 21 being the most common. It is the most common microdeletion syndrome. The clinical range of features with which affected individuals present is very broad and includes congenital heart disease (particularly conotruncal malformations), palatal abnormalities, characteristic facial features, and …