Search results for "DELE"
showing 10 items of 631 documents
The DrosDel Deletion Collection: A Drosophila Genomewide Chromosomal Deficiency Resource
2007
AbstractWe describe a second-generation deficiency kit for Drosophila melanogaster composed of molecularly mapped deletions on an isogenic background, covering ∼77% of the Release 5.1 genome. Using a previously reported collection of FRT-bearing P-element insertions, we have generated 655 new deletions and verified a set of 209 deletion-bearing fly stocks. In addition to deletions, we demonstrate how the P elements may also be used to generate a set of custom inversions and duplications, particularly useful for balancing difficult regions of the genome carrying haplo-insufficient loci. We describe a simple computational resource that facilitates selection of appropriate elements for generat…
Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization
2006
Methods presently employed for detection of large rearrangements have several drawbacks, such as the amount of sample and time required, technical difficulty, or the probability of false-negative carriers. Using the low-density-lipoprotein receptor (LDLR) gene, whose mutations are responsible for familial hypercholesterolemia (FH), we have developed a procedure to detect large rearrangements in this gene based on semiquantitative PCR, with important improvements as compared to previous methods. Our method covers the complete LDLR gene and introduces an internal control in the reaction. The procedure discriminates the four different large rearrangements (two deletions and two insertions) tha…
Interstitial deletion of the long arm of chromosome 1 (1q 25-32): Clinical and endocrine features with a long term follow-up
2003
Deletion of long arm of chromosome 1 (1q-) is a rare condition with malformations of many organs (central nervous system, heart, kidney, etc.). Authors describe a young girl characterised by 1q 25-32 deletion, with severe intra- and extrauterine growth retardation, facial dismorphisms, multiple organ malformations. The patient is followed for a long-term clinical and endocrine evaluation, with evidence of hypoplastic hypophysis and multiple endocrine deficiency.
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of…
2022
Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynost…
A cognitive architecture for inner speech
2020
Abstract A cognitive architecture for inner speech is presented. It is based on the Standard Model of Mind, integrated with modules for self-talking. Briefly, the working memory of the proposed architecture includes the phonological loop as a component which manages the exchanging information between the phonological store and the articulatory control system. The inner dialogue is modeled as a loop where the phonological store hears the inner voice produced by the hidden articulator process. A central executive module drives the whole system, and contributes to the generation of conscious thoughts by retrieving information from long-term memory. The surface form of thoughts thus emerges by …
Compensi e “buonuscita” dell’amministratore delegato di S.p.a.: problemi di competenza
2021
Il tribunale di Roma prende posizione sulla delicata questione della competenza alla determinazione dei compensi e delle altre remunerazioni degli amministratori delegati di società per azioni, discostandosi da una interpretazione consolidata, specie in dottrina, e optando per l’applicazione in materia del comma 1 dell’art. 2389 c.c., con argomentazioni idonee ad aprire un dibattito sul significato delle “particolari cariche” degli amministratori di S.p.a. In facing the thorny matter of competence to determine payments and other kind of remuneration for chief executive officers in corporations, the Court of Rome distances itself from a steady interpretation mainly spread among scholars, and…
Household Leverage and Fiscal Multipliers
2011
We study the size of fiscal multipliers in response to a government spending shock under different household leverage conditions in a general equilibrium setting with search and matching frictions. We allow for different levels of household indebtedness by changing the intensive margin of borrowing (loan-to-value ratio), as well as the extensive margin, defined as the number of borrowers over total population. The interaction between the consumption decisions of agents with limited access to credit and the process of wage bargaining and vacancy posting delivers two main results: (a) higher initial leverage makes it more likely to find output multipliers higher than one; and (b) a positive g…
Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia
1999
SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …
MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORM…
1996
Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:…
Cri du chat syndrome: A critical review
2009
A new syndrome was identified in 1963, when Lejeune et al. reported a genetic disease resulting from a partial or total deletion on the short arm of chromosome 5 (5p-) and named it the cri du chat syndrome (CdCS). This term makes reference to the main clinical feature of the syndrome, a high-pitched monochromatic cat-like crying, that usually disappears in the first years of life. CdCS is one of the most common chromosomal deletion syndromes in humans, with an incidence of 1:15.000-1:50.000 live-births. Our purpose was to review different aspects of this syndrome (concept, epidemiology, aetiology, clinical features,diagnostic methods and prognosis) emphasizing both: the breakthrough in this…