44 research outputs found
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Provenance studies of Sgraffiato and Late Green Glazed wares from Siraf, Iran
Results of neutron activation analyses of 23 elements in ceramic archaeological specimens are given. Various wares are divided into the following categories: early Sgraffiato, late Sgraffiato, late Green A, late Green B, and Samarra ware. Results are given on the following elements: Al, Ca, Dy, Mn, Na, K, U, Sm, La, Ti, Lu, Co, Sc, Fe, Cs, Cr, Ni, Eu, Ce, Hf, Ta, Th, and Yb. (JGB
The phenotypic spectrum of WWOX -related disorders: 20 additional cases of WOREE syndrome and review of the literature
Purpose: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations. Methods: We report clinical and molecular findings in 20 additional patients from 18 unrelated families with WOREE syndrome and biallelic pathogenic variants in the WWOX gene. Different molecular screening approaches were used (quantitative polymerase chain reaction/multiplex ligation-dependent probe amplification [qPCR/MLPA], array comparative genomic hybridization [array-CGH], Sanger sequencing, epilepsy gene panel, exome sequencing). Results: Two copy-number variations (CNVs) or two single-nucleotide variations (SNVs) were found respectively in four and nine families, with compound heterozygosity for one SNV and one CNV in five families. Eight novel missense pathogenic variants have been described. By aggregating our patients with all cases reported in the literature, 37 patients from 27 families with WOREE syndrome are known. This review suggests WOREE syndrome is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant seizures, ophthalmological involvement, and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. Conclusion: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome
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ABUNDANCE PROFILES OF IRIDIUM AND OTHER ELEMENTS NEAR THE CRETACEOUS-TERTIARY BOUNDARY IN HOLE 516F OF DSDP LEG 72
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CHEMICAL COMPOSITION PATTERNS OF CERAMIC WARES FROM FUSTAT EGYPT
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MAJOR SOURCES OF ECUADORIAN ARCHAEOLOGICAL OBSIDIAN AND PROVENIENCE ASSIGNMENT OF ARTIFACTS
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Geochemical anomalies near the Eocene-Oligocene and Permian-Triassic boundaries
Evidence is presented to support the theory that several mass extinctions, i.e., those that define the Permian-Triassic boundary, the Cretaceous-Tertiary boundary, and the Eocene-1 Oligocene boundary, were caused by impact on the earth of extraterrestrial objects having the composition of carbonaceous chondrites and diameters of about 10 km. The evidence consists of anomalously high concentrations of iridium and other siderophile elements at the stratigraphic levels defining the extinctions. (ACR
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