9,564 research outputs found
Charlie May Simon materials
No full textThis collection contains materials relating to Arkansas author Charlie May Simon
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
No full textTwo brothers with X-linked ataxia (XLA) were found to have hypochromic red cells and increased erythrocyte protoporphyrin despite normal iron stores. The mother was unaffected by ataxia and had normal iron stores but showed evidence of some red cell hypochromia with heavy basophilic stippling that stained positive for iron. Bone marrow biopsy confirmed the presence of ring sideroblasts in one of the brothers. The absence of mutations in the ALAS2 gene and the predominance of zinc over free protoporphyrin led to a search using a combination of DNA and cDNA analysis for the presence of mutations in the ABC7 gene. ABC7 encodes a mitochondrial half-type ATP Binding Cassette transporter involved in iron homeostasis. The published cDNA sequence was used to search databases for the genomic sequence of which 12 exons spanning 23.4 kb were mapped leaving the most 5' nucleotides unaccounted for. The identified exons and their exon-intron boundaries were amplified from DNA while the most 5' sequence including the initiation codon was amplified from cDNA of peripheral blood cells. Direct sequencing revealed hemizygosity in the brothers and heterozygosity in the mother for a G-->C transversion at position 1299 of the published cDNA. This predicts a V411L substitution at the beginning of the last of six putative transmembrane regions of the protein. Restriction enzyme digestion confirmed the presence of this mutation in the three family members but could not detect it in 200 normal alleles. An uncle affected by ataxia also carried this mutation. This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome
Simon Nyakot
No full textabstract: Simon Nyakot left his village when he was six years old.
“Lost Boys Found” is an ongoing, interdisciplinary project that is collecting, recording and archiving the oral histories of the Lost Boys/Girls of Sudan. The collection is a work-in-progress, seeking to record the oral history of as many Lost Boys/Girls as are willing, and will be used in a future book.Age: 27Region: LakeThis picture and bio was donated to the Lost Boys Found project from The Arizona Lost Boys Cente
Cahiers Saint-Simon
No full texthttps://www.persee.fr/renderCollectionCover/simon.pngThe Société Saint-Simon was founded in 1972 in order to promote studies about the Duke of Saint-Simon (1675-1755), namely about the work, life, and thinking of the Mémoires’s author. Each year it issues a Cahier Saint-Simon. It contains the Acts of the annual Journée d’étude in Versailles, but also Notes and Documents, News of the Society and Book reviews.Fondée en 1972, la Société Saint-Simon a pour but de développer les études concernant l'oeuvre, la personne et la pensée du duc de Saint-Simon (1675-1755), l’auteur des Mémoires. Chaque année, paraît un numéro de Cahiers Saint-Simon contenant les actes de la journée annuelle de Versailles, ainsi que des Mélanges, des Notes et Documents et une Chronique bibliographique détaillée
Cahiers Saint-Simon
No full texthttps://www.persee.fr/renderCollectionCover/simon.pngThe Société Saint-Simon was founded in 1972 in order to promote studies about the Duke of Saint-Simon (1675-1755), namely about the work, life, and thinking of the Mémoires’s author. Each year it issues a Cahier Saint-Simon. It contains the Acts of the annual Journée d’étude in Versailles, but also Notes and Documents, News of the Society and Book reviews.Fondée en 1972, la Société Saint-Simon a pour but de développer les études concernant l'oeuvre, la personne et la pensée du duc de Saint-Simon (1675-1755), l’auteur des Mémoires. Chaque année, paraît un numéro de Cahiers Saint-Simon contenant les actes de la journée annuelle de Versailles, ainsi que des Mélanges, des Notes et Documents et une Chronique bibliographique détaillée
Simon Weir - The Sydney Surrealist
No full textExhibition catalogue of "Simon Weir - The Sydney Surrealist", Exhibition at Disorder Gallery, Darlinghurst NSW, Australia, in April 2024. The catalogue contains images of exhibited works and statements by the artist Simon Weir, the gallery Director Elliott Cole, and author and journalist Margie Smithurst
Joan Simon Correspondence
No full textEntries include a typed biographical letter from Simon in New York, explaining her relationship to Maine for the purposes of presentation to the Maine Author Collection
Carlo Ferdinando Russo, Aristophanes, An Author for the Stage.
No full textByl Simon. Carlo Ferdinando Russo, Aristophanes, An Author for the Stage.. In: L'antiquité classique, Tome 65, 1996. p. 296
Carlo Ferdinando Russo, Aristophanes, An Author for the Stage.
No full textByl Simon. Carlo Ferdinando Russo, Aristophanes, An Author for the Stage.. In: L'antiquité classique, Tome 65, 1996. p. 296
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