نتایج جستجو برای: shprintzen syndrome
تعداد نتایج: 621913 فیلتر نتایج به سال:
Ginibre-Tsutsumi-Velo (1997) proved local well-posedness for the Zakharov system i∂tu +∆u = nu ∂ t n −∆n = ∆|u| u(x, 0) = u0(x) n(x, 0) = n0(x), ∂tn(x, 0) = n1(x) u = u(x, t) ∈ C n = n(x, t) ∈ R x ∈ R, t ∈ R for any dimension d, in the inhomogeneous Sobolev spaces (u, n) ∈ Hk(Rd)×Hs(Rd) for a range of exponents k, s depending on d. Here we restrict to dimension d = 1 and present a...
Analog synthesizers continue to be used by many musicians because of their distinctive timbres, intuitive real-time control and flexible patching. There has been recent interest in simulating the analog signal chain with digital techniques. However, a literal time-domain translation of analog VCOs and VCFs is surprisingly challenging. This paper presents a new strategy for digital simulation ba...
We report data on a group of 37 VCFS patients with specific reference to their intelligence, behaviour, and social competence. Fifty five percent of the children had a borderline to normal IQ. Mental retardation (defined as IQ < 70 or > -2 SD below the mean) was found in 45%. In the majority, the mental retardation was mild (38%) and only two patients had moderate mental retardation. Severe men...
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the number of tandem repeat blocks in LCR2...
We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge syndrome and velocardiofacial syndrome. Mutation scanning of RET, GDNF, EDNRB, and EDN3, genes asso...
Nasal gliomas (nasal glial heterotopia) are rare benign congenital frontonasal lesions occurring in approximately 1:20.000-40,000 live births. The diagnosis is rarely reported prenatally. Nasal gliomas are typically isolated lesions, with syndromic association being exceedingly rare. Metopic craniosynostosis can occur as an isolated abnormality or in association with multiple syndromes. This ca...
BACKGROUND As children with velocardiofacial syndrome (VCFS) develop, they are at increased risk for psychopathology; one third will eventually develop schizophrenia. Because VCFS and the concomitant symptomatology result from a known genetic origin, the biological and behavioral characteristics of the syndrome provide an optimal framework for conceptualizing the associations among genes, brain...
Bilateral symmetry in vertebrates is imperfect and mild asymmetries are found in normal growth and development. However, abnormal development is often characterized by strong asymmetries. Coronal craniosynostosis, defined here as consisting of premature suture closure and a characteristic skull shape, is a complex trait. The premature fusion of the coronal suture can occur unilaterally associat...
The 22q11.2 deletion is the strongest known genetic risk factor for schizophrenia. Research has implicated microRNA-mediated dysregulation in 22q11.2 deletion syndrome (22q11.2DS) schizophrenia-risk. Primary candidate genes are DGCR8 (DiGeorge syndrome critical region gene 8), which encodes a component of the microprocessor complex essential for microRNA biogenesis, and MIR185, which encodes mi...
BACKGROUND Velo-cardio-facial syndrome (VCFS, 22q11.2 deletion) is characterized by severely delayed language development. The current study explored the integrity of verbal short-term memory (STM), a cognitive function critically involved in language development, in eight children with VCFS. METHODS Using a multiple case study design, we presented a series of STM tasks exploring immediate se...
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