102,216 research outputs found
Caroli Schaaf Opus Aramæum : Complectens Grammaticam Chaldaico-Syriacam: Selecta Targumin, Cum Versione Latina, Et Annotationibus: Lexicon Chaldaicum, Libris V. T. Chaldæis; item Selectis Targumicis accomodatum
No full textCAROLI SCHAAF OPUS ARAMÆUM : COMPLECTENS GRAMMATICAM CHALDAICO-SYRIACAM: SELECTA TARGUMIN, CUM VERSIONE LATINA, ET ANNOTATIONIBUS: LEXICON CHALDAICUM, LIBRIS V. T. CHALDÆIS; ITEM SELECTIS TARGUMICIS ACCOMODATUM
Caroli Schaaf Opus Aramæum : Complectens Grammaticam Chaldaico-Syriacam: Selecta Targumin, Cum Versione Latina, Et Annotationibus: Lexicon Chaldaicum, Libris V. T. Chaldæis; item Selectis Targumicis accomodatum (1)
Bogen Rrrr4 - Kkkk (3)
Bogen Iiii4 - Aaaa (67)
Bogen Zzz4 - Ppp (139)
Bogen Ooo4 - Kkk (211)
Fotodokumentation (260
Effect of annealing in an external magnetic field on the magnetic texture of Mo-containing nanocrystalline alloys
No full textThe magnetic texture of (Fe1-xCox)(76)Mo8Cu1B15 (x = 0, 0.5) nanocrystalline alloys is studied for different amounts of nanocrystalline grains. The originally amorphous alloys were annealed in external longitudinal and transverse magnetic fields of 0.025 T and 0.8 T, respectively. Mossbauer measurements were carried out at room and liquid nitrogen temperatures in order to gain information on the hyperfine interactions and the orientation of the magnetization. The obtained results are compared with those received from zero-field annealed samples. Magneto-optical Kerr effect (MOKE) was applied for the investigation of possible changes at the surface of the x = 0 ribbon as a function of annealing temperature and applied magnetic field. A combination of uniaxial anisotropy, which originates from the shape anisotropy, and four-fold anisotropy, which is a contribution from crystallites of nanometre size embedded in the residual amorphous matrix, is unveiled
Proceedings of the 7th IEEE/IFIP International Workshop on Business-driven IT Management (BDIM 2012)
No full textIEEE/IFIP International Workshop on Business-driven IT Management è il workshop internazionale di riferimento nel relativo settore di ricerca
Business-Driven IT Management Coming of Age - A Report on the 7th IEEE/IFIP International Workshop on Business-Driven IT Management (BDIM 2012)
No full textThe 7th IEEE/IFIP International Workshop on Business-Driven IT Management (BDIM 2012) was held on April 20, 2012 in Maui, USA, in conjunction with the 13th IEEE/IFIP International Network Operations and Management Symposium (NOMS 2012) conference. This paper reports on the BDIM 2012 workshop, describing in summary the keynote and the technical paper sessions and provides a high-level view of the discussions that took place during the workshop as well as of the current state of the research activities in Business-Driven IT Management
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
No full textInternational audienceWe present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical features of this cohort include global developmental delay and reduced sensitivity to pain, as well as behavioral anomalies. Only one of the seven patients reported here was formally diagnosed with autism spectrum disorder (ASD), while ASD-like features were described in others, overall indicating a lower prevalence of ASD in Marbach-Schaaf neurodevelopmental syndrome than previously assumed. The clinical spectrum of the current cohort is similar to that reported in the initial publication, delineating a complex developmental disorder with behavioral and neurologic features. PRKAR1B encodes the regulatory subunit R1beta of the protein kinase A complex (PKA), and is expressed in the adult and embryonal central nervous system in humans. PKA is crucial to a plethora of cellular signaling pathways, and its composition of different regulatory and catalytic subunits is cell-type specific. We discuss potential molecular disease mechanisms underlying the patients' phenotypes with respect to the different known functions of PKA in neurons, and the phenotypes of existing R1beta-deficient animal models
Letter, [Author unclear] to Paulina T. Merritt
No full textHandwritten letter to Paulina Merritt from an unknown author, October 1, 1876.
Proceedings of the 10th IEEE/IFIP International Workshop on Business-driven IT Management (BDIM 2015)
No full textIEEE/IFIP International Workshop on Business-driven IT Management è il workshop internazionale di riferimento nel relativo settore di ricerca
Proceedings of the 9th IEEE/IFIP International Workshop on Business-driven IT Management (BDIM 2014).
No full textIEEE/IFIP International Workshop on Business-driven IT Management è il workshop internazionale di riferimento nel relativo settore di ricerca
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
No full textPurpose: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf -Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. The causality of the reported variants in the context of the patients' phenotypes was questioned, as MAGEL2 whole -gene deletions seem to cause little or no clinical phenotype. Methods: Here we report a total of 18 newly identified individuals with Schaaf-Yang syndrome from 14 families, including 1 family with 3 individuals found to be affected with a truncating variant of MAGEL2, 11 individuals who are clinically affected but were not tested molecularly, and a presymptomatic fetal sibling carrying the pathogenic MAGEL2 variant. Results: All cases harbor truncating mutations of MAGEL2, and nucleotides c.1990-1996 arise as a mutational hotspot, with 10 individuals and 1 fetus harboring a c.1996dupC (p.Q666fs) mutation and 2 fetuses harboring a c.1996deIC (p.Q666fs) mutation. The phenotypic spectrum of Schaaf-Yang syndrome ranges from fetal akinesia to neurobehavioral disease and contractures of the small finger joints. Conclusion: This study provides strong evidence for the pathogenicity of truncating mutations of the paternal allele of MAGEL2, refines the associated clinical phenotypes, and highlights implications for genetic counseling for affected families
The adult phenotype of Schaaf-Yang syndrome
No full textBACKGROUND
MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader-Willi syndrome (PWS, OMIM #176270). While larger numbers of younger individuals with SHFYNG have been recently published, the phenotype in adulthood is not well established. We recruited 7 adult individuals (aged 18 to 36) with molecularly confirmed SHFYNG and collected data regarding the clinical profile including eating habits, sleep, behavior, personal autonomy, psychiatric abnormalities and other medical conditions, as well as information about the respective phenotypes in childhood.
RESULTS
Within our small cohort, we identified a range of common features, such as disturbed sleep, hypoactivity, social withdrawal and anxiety, but also noted considerable differences at the level of personal autonomy and skills. Behavioral problems were frequent, and a majority of individuals displayed weight gain and food-seeking behavior, along with mild intellectual disability or borderline intellectual function. Classical symptoms of SHFYNG in childhood were reported for most individuals.
CONCLUSION
Our findings indicate a high variability of the functional abilities and social participation of adults with SHFYNG. A high prevalence of obesity within our cohort was notable, and uncontrollable food intake was a major concern for some caregivers. The phenotypes of PWS and SHFYNG in adulthood might be more difficult to discern than the phenotypes in childhood. Molecular genetic testing for SHFYNG should therefore be considered in adults with the suspected diagnosis of PWS, if testing for PWS has been negative
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