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Encyclopedia results for Expressivity

Expressivity





Encyclopedia results for Expressivity

  1. Expressivity

    Unreferenced date February 2008 for the measure of the ideas expressible in a programming language Expressivity computer science Expressivity is a term used in genetics to refer to variations in a phenotype among individuals carrying a particular genotype . The term can be used to characterize qualitatively or quantitatively the extent of phenotypic variation given a particular genotype. The term is analogous to the severity of a condition in clinical medicine . For example, the amount of blood ejected from the pumping heart with each contraction can be quantitated by echocardiography and is called the ejection fraction. If a specific genotype is associated with the development of congestive heart failure, the expressivity would be represented by the range of ejection fractions seen in patients that have that genotype. As a more qualitative example, the blue gene might have an expressivity of 25 for individuals that express the blue gene and appear light blue, and 75 for individuals that express the blue gene and appear dark blue.Expressivity is measured only when there is 100 penetrance. This differs from penetrance , which refers to the likelihood of the gene generating its associated phenotype at all, as determined by the proportion of individuals with a given genotype who also possess the associated phenotype. In contrast, expressivity refers to the influence of an expressed gene at the level of particular individuals. Variable expressivity occurs when a phenotype is expressed to a different degree among individuals with the same genotype. For example, individuals with the same allele for a gene involved in a quantitative trait like body height might have large variance some are taller than others , making prediction of the phenotype from a particular genotype alone difficult. The expression of a phenotype may be modified by the effects of aging, other genetic loci, or environmental factors. See also Penetrance Allele Phenotype Genotype Mendelian inheritance Category ...   more details



  1. Hierarchical task network

    used has the same expressivity i.e. can solve the same domains as STRIPS . ref M. Lekavy and P. Navrat ... Like 20Planning strips vs htn lekavy.pdf Expressivity of STRIPS Like and HTN Like Planning . Lecture ... and Expressivity. In Proc. AAAI 94 ref but cannot be directly used because of its undecidability. See ...   more details



  1. Proband

    Unreferenced stub auto yes date December 2009 Proband , or propositus , is a term used most often in medical genetics and other medical fields to denote a particular subject person or animal being studied or reported on. On Pedigree animal pedigrees , the proband is noted with an arrow and the box male or circle female shaded accordingly. It is important to denote the proband, so that the relationship to other individuals can be seen and patterns established. In many cases, the proband is the first affected family member who seeks medical attention for a genetic disorder . Between the ancestor s of the proband, there are very likely other subjects with the manifest disease, but they might be unknown due to the lack of information regarding those individuals or the disease at the time they lived. Other ancestors might be undiagnosed due to the incomplete penetrance or variable expressivity . The diagnosis of a proband raises the index of suspicion for the proband s relatives and some of them may be diagnosed with the same disease. Conventionally, when drawing a pedigree chart , instead of the first diagnosed person, the proband may be chosen from among the affected ancestor s parents, grandparents from the first generation where the disease is found. The term proband is also used in genealogy , where it denotes the root node of an Ahnentafel . Category Classical genetics Genetics stub de Proband fr Proband lt Probandas pt Probando sv Proband ...   more details



  1. Haploinsufficiency

    wild type alleles of this gene a high expressivity allele and a low expressivity allele. When the mutant gene is inherited with a high expressivity allele, there is no disease phenotype. However, if a mutant allele and a low expressivity allele are inherited, the residual protein levels falls ...   more details



  1. Scenic bios

    Unreferenced date March 2009 Scenic bios is a term used to describe the state of physicality that a performer generates in the act of performance. It is a state of readiness and energy that is above and beyond the daily. Daily energy is that which we all employ during ordinary activity. It is usually the minimum required for practical requirement. Extra daily energy on the other hand, is that which the performer employs by various means such as balance, anatomical alteration, and other less obvious devices such as extra awareness and understanding of certain principles, in the very act of performance. Some of these principles, first recognized and formulated in empirical studies by Eugenio Barba , may be learned or they may be inherent. Such principles as equivalence , Wiktionary dilation dilation , rhythm and timing, all seem like second nature, and the performer may not know that she is applying them in any strict sense. But, Barba has demonstrated that through physical training and exercises of his devising these principles can become fruitfully exploited by the actor in her endeavours. All these principles are believed by Barba to exist in the actors pre expressive being. This pre expressivity is otherwise known as scenic bios, or stage presence . See also International School of Theatre Anthropology ISTA Category Acting ...   more details



  1. Bossam (software)

    For the food Bossam food Context date October 2009 Bossam is an inference engine a Semantic Reasoner for the semantic web. It is basically a Rete algorithm RETE based rule engine with native supports for reasoning over Web Ontology Language OWL ontologies, SWRL ontologies, and RuleML rules. Additionally, Bossam includes several expressivity features including 1 URI references as symbols, 2 2nd order logic syntax, 3 disjunctions in the antecedent and conjunctions in the consequent both via Lloyd Topor transformation , 4 URI based java method attachment, 5 support for both negation as failure and classical negation. Bossam loads, performs reasoning over, and answers to the queries over a knowledge set, which can include any combination of the following document types. RDF S documents in RDF XML or in N3 OWL documents in RDF XML or in N3 Bossam rule documents SWRL OWL documents in OWLX or in RDF XML Bossam can call Java objects from the antecedent or consequent of rules through the URI based java method attachment. It s possible to easily mix Java objects into the combination of rules and ontologies. External links Bossam Rule OWL Reasoner Homepage http bossam.wordpress.com Category Semantic Web Category Rule engines ...   more details



  1. Camptodactyly

    Refimprove date June 2007 Camptodactyly is a medicine medical condition involving fixed flexion deformity of the interphalangeal joint s of the little finger. This involves permanent flexure of one or more phalanges fingers . Camptodactyly OMIM 114200 is an autosomal dominant trait that is known for its incomplete expressivity as it can occur in both little fingers, one, or neither. Causes A number of congenital syndrome s may cause camptodactyly Jacobsen syndrome Blau syndrome Freeman Sheldon syndrome Cerebrohepatorenal syndrome Weaver syndrome Christian syndrome 1 Gordon Syndrome Jacobs arthropathy camptodactyly syndrome Lenz microphthalmia syndrome Marshall Smith Weaver syndrome Oculo dento digital syndrome Tel Hashomer camptodactyly syndrome Toriello Carey syndrome Stuve Wiedemann syndrome Loeys Dietz syndrome Fryns syndrome ref Young, I. D. Simpson, K. Winter, R. M. A case of Fryns syndrome. J. Med. Genet. 23 82 88, 1986. PubMed ID 3950939 ref Etymology The name is derived from the ancient Greek words kamptos bent and daktylos finger . References Reflist http www.childrenshospital.org az Site644 mainpageS644P0.html http medind.nic.in maa t04 i3 maat04i3p227.pdf Category Congenital disorders Med stub de Kamptodaktylie it Camptodattilia pl Kamptodaktylia sk Kamptodakt lia ...   more details



  1. Psychomotor Education

    Wikify date January 2011 Orphan date January 2011 Psychomotor education is a pedagogic and therapeutic approach, the aim of which is to support and aid an individual s personal development. It is based on a holistic view of human beings that considers each individual as a unity of physical, emotional and cognitive actualities, which interact with each other and the surrounding social environment. Psychomotor specialists study the body and its expressivity. The body is regarded not merely as a mechanism with neurophysiogical developments, but also as a thing with deep rooted emotional traits, which have come about through somato psychic experiences, particularly in early childhood. Psychomotor specialists work in the field of prevention, education, re education, rehabilitation and research. Psychomotor education and therapy can be used for any age group. A school of psychomotor education, called the Aucouturier Psychomotor Practice, was developed by French pedagogists Bernard Aucouturier and Andre Lapierre. ref Aucouturier, B. & Lapierre, A. 1975 . La symbolique du mouvement. Psychomotricit et ducation. Paris. ref References Reflist Category Motor control Category Pedagogy ca Psicomotricitat de Psychomotorik es Psicomotricidad eu Psikomotrizitate fr Psychomotricit nl Psychomotoriek ...   more details



  1. 1969 in art

    Unreferenced date December 2009 Year nav topic 1969 art List of years in Art Events Andy Warhol and Gerard Malanga co found the magazine, Interview magazine Interview . Opening of the Oakland Museum of California . Lyrical Abstraction exhibition debuts at the Aldrich Contemporary Art Museum marking a significant return to expressivity in American abstract painting. For two years the exhibition travels throughout the U.S. including to the Whitney Museum of American Art in New York City . Awards Archibald Prize Ray Crooke George Johnston Works Seealso Category 1969 paintings Kenojuak Ashevak The Owl Helen Frankenthaler Slice of Stone Itself Kanda Nissho Snow Farm Victor Teterin File Teterin Victor Sredne Podjacheskaya street tet36bw.jpg Sredne Podjacheskaya street in Leningrad Alexander Mikhailovich Semionov Alexander Semionov File Semionov Alexander Mikhailovich Leningrad in the morning pos12bw.jpg Leningrad in the Morning Enzo Plazzotta Baigneuse Jean Paul Riopelle La Joute , public sculptural installation, Montreal Will Roberts Redberth Village, Pembrokeshire Ronnie Landfield Diamond Lake La Grande Vitesse Alexander Calder Nikolai Timkov File Timkov Rwinter rim02bw.jpg Russian Winter Births November 15 Francis Di Fronzo , landscape painter Full date unknown Chantal Joffe , English painter Deaths March 14 Ben Shahn , painter and photographer May 11 T. K. Padmini , feminist painter July 5 Walter Gropius , architect July 25 Otto Dix , painter and printmaker b. 1891 in art 1891 DEFAULTSORT 1969 In Art Category 1969 Art Category Years of the 20th century in art no Kunst ret 1969 pt 1969 na arte ru 1969 sv Konst ret 1969 ...   more details



  1. I-maestro

    Orphan date February 2009 I MAESTRO is an acronym for Interactive Multimedia Environment for Technology Enhanced Music Education and Creative Collaborative Composition and Performance Description i Maestro is a multi national Europe an collaborative research project supported by the European Commission under the Information Society Technologies IST Sixth Framework Programme to develop interactive multimedia environments for technology enhanced music learning and teaching. Project aims The project aims to explore solutions for music education and training in both music theory theory and performance, building on recent innovations resulting from the development of computer and Information technology information technologies , by exploiting new pedagogical paradigms with cooperative and interactive self learning environment, to support the creation of flexible and personalisable e learning courses to improve accessibility to the musical knowledge. Music performance is not simply to play the right note at the right time . ref See the http www.i maestro.org I MAESTRO Project website ref i Maestro project studies many relevant aspects in order to produce methods and tools for music education, taking into account key factors such as expressivity, interactivity, developing gesture based interfaces and augmented musical instrument instruments to support different types of learning and teaching including instrumental playing, with particular focus on the violin family. Notes reflist External links http www.i maestro.org I MAESTRO Project website Category FP6 Projects Category Music education Category Educational projects Category Information technology projects ...   more details



  1. Iridogoniodysgenesis, dominant type

    Infobox Disease Name PAGENAME Image Caption DiseasesDB 34611 ICD10 ICD10 Group Major minor LinkGroup LinkMajor ICD9 ICD9 xxx ICDO OMIM 601631 MedlinePlus eMedicineSubj eMedicineTopic MeshID Iridogoniodysgenesis, dominant type type 1, IRID1 refers to a spectrum of diseases characterized by malformations of the irido corneal angle of the anterior chamber of the human eye eye . Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells . These cells lead to formation of most of the anterior segment structures of the eye Stroma of cornea corneal stroma & endothelium, Stroma of iris iris stroma , Trabecular meshwork of the eye trabeculum . ref Dureau P.Iridogoniodysgenesis dominant type. Orphanet Encyclopedia. March 2004 ref Symptoms iris hypoplasis , goniodysgenesis , and juvenile glaucoma . Glaucoma phenotype that maps to 6p25 results from mutations in the forkhead transcription factor gene Forkhead box C1 FOXC1 Transmission autosomal dominant pattern with complete penetrance and variable expressivity. First reported by Berg 1932 . ref cite journal doi 10.1111 j.1755 3768.1932.tb07210.x author Berg F title Erbliches jugendliches Glaukom journal Acta Ophthal. volume 10 issue pages 568 87 year 1932 ref Treatment of glaucoma in iridogoniodysgenesis is primarily surgical. It is listed as a rare disease by the Office of Rare Diseases ORD . ref RareDiseases 3026 Iridogoniodysgenesis, dominant type ref This means that Iridogoniodysgenesis, dominant type, or a subtype of Iridogoniodysgenesis, dominant type, affects less than 200,000 people in the US population. References reflist External links http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 2296&ordinalpos 1&itool EntrezSystem2.PEntrez.Gene.Gene ResultsPanel.Gene RVDocSum Entrez Gene Transcription factor coregulator deficiencies Category Rare diseases ...   more details



  1. Bart syndrome

    infobox disease Name Bart syndrome Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 132000 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin , epidermolysis bullosa , lesions of the mouth mucosa , and onychodystrophy dystrophic nails . ref name Bart syndrome cite journal author Butler DF, Berger TG, James WD, Smith TL, Stanely JR, Rodman OG year 1986 title Bart s syndrome microscopic, ultrastructural, and immunofluorescent mapping features journal American Family Physician volume 3 issue 2 pages 113 118 pmid 3513144 ref ref name Andrews cite book author James W, Berger T, Elston D year 2005 title Andrews Diseases of the Skin Clinical Dermatology edition 10th page 558 publisher Saunders isbn 0 7216 2921 0 ref Genetics The disease is inherited by autosomal dominant transmission with complete penetrance but variable Expressivity expression . This means that children of an affected parent that carries the gene have a 50 chance of developing the disorder, although the extent to which they are affected is variable. Citation needed date February 2009 Bart syndrome is caused by ultrastructural abnormalities in the anchoring fibrils . Genetic linkage of the inheritance of the disease points to the region of chromosome 3 near the collagen, type VII, alpha 1 gene COL7A1 . ref name Genetics of Bart syndrome cite journal author Christiano AM, Bart BJ, Epstein EH Jr, Uitto J year 1996 title Genetic basis of Bart s syndrome a glycine substitution mutation in the type VII collagen gene journal American Family Physician volume 106 issue 6 pages 1340 2 pmid 8752681 ref See also List of cutaneous conditions Bart Pumphrey syndrome References reflist Scleroprotein disease Category Genodermatoses Category Collagen disease ...   more details



  1. Wolcott-Rallison syndrome

    Infobox disease Name Wolcott Rallison syndrome Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 226980 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Wolcott Rallison syndrome abbreviated as WRS is a rare, autosomal recessive disorder with infancy onset diabetes mellitus , multiple epiphyseal dysplasia , osteopenia , mental retardation or developmental delay, and hepatic failure hepatic and renal failure renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene , which encodes the pancreatic eukaryotic translation initiation factor 2 alpha kinase 3. ref name pmid18500571 cite journal author S vik O, Nj lstad PR, Jellum E, Molven A title Wolcott Rallison syndrome with 3 hydroxydicarboxylic aciduria and lethal outcome journal J. Inherit. Metab. Dis. volume issue pages year 2008 month May pmid 18500571 isbn 1054500808661 doi 10.1007 s10545 008 0866 1 issn ref ref name pmid16813601 cite journal author Durocher F, Faure R, Labrie Y, Pelletier L, Bouchard I, Laframboise R title A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott Rallison syndrome journal Clin. Genet. volume 70 issue 1 pages 34 8 year 2006 month July pmid 16813601 doi 10.1111 j.1399 0004.2006.00632.x url http www3.interscience.wiley.com resolve openurl?genre article&sid nlm pubmed&issn 0009 9163&date 2006&volume 70&issue 1&spage 34 issn ref References reflist Category Diabetes Category Rare diseases Category Autosomal recessive disorders medicine stub ...   more details



  1. Ruslan Korostenskij

    Ruslan Korostenskij born in November 1975 is an Impressionist Realism arts Realist painter of Ukrainians Ukrainian descent based in Lithuania . Alongside a career as a cinematographer , Member of Lithuanian Filmmakers Union, he has persistently developed his other talent, painting. After completing formal education which, coupled with tireless zeal and high standards to performance, had equipped him with both mastery and a refined visionary manner, the artist went on to develop his own unique style. The expressivity of his paintings is often compared to that of van Gogh , while the artist himself is regarded as one of the most striking representatives of his generation of artists. References Lithuanian Film Centre http www.lfc.lt lt Page PersonList&PersonType Director&ID 2866 External links Artist s Gallery http www.paintart.lt br Lithuanian Film Centre http www.lfc.lt lt Page PersonList&PersonType Director&ID 2866 br Review on early work http www.zoryafineart.com artists 118 ruslan korostenskij br Lithuanian Filmmakers Union http www.kinosajunga.lt br The Architect s Gallery http www.thearchitectsgallery.com br Selected paintings at YouTube http www.youtube.com watch?v h cDMX1nNaE br The Battle of Grunwald at YouTube http www.youtube.com watch?v psoUQx6e6T0 br Persondata Metadata see Wikipedia Persondata . NAME Korostenskij, Ruslan ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1975 PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Korostenskij, Ruslan Category 1975 births Category Flower artists Category Landscape artists Category Realist painters Category Ukrainian painters Category Living people Category Lithuanian artists ...   more details



  1. Simple learning design 2.0

    Wikify date March 2011 Simple Learning Design 2.0 SLD 2.0 is a learning design specification proposed by Durand and Stephen Downes Downes from the National Research Council of Canada in 2009. ref Durand, G., Downes, S. Toward Simple Learning Design 2.0. In 4th Int. Conf. on Computer Science & Education 2009, Nanning, China, pp. 894 897, 2009. ref SLD 2.0 is designed to be easily implemented by developers in a commercial e learning application. The intent behind SLD 2.0 was to propose a specification with a good balance between its expressivity and the simplicity of its implementation all features that might have been deemed too complex to implement were systematically avoided. ref Durand G., Belliveau L., Craig B., Simple Learning Design 2.0, icalt, pp.549 551, 2010 10th IEEE International Conference on Advanced Learning Technologies, 2010. ref SLD 2.0 can be used as an add on to http www.imsglobal.org commoncartridge.html IMS Common Cartridge , respecting and reusing the features of http www.imsglobal.org commoncartridge.html IMS CC . To implement the specification an XML schema is available online http www2.umoncton.ca cfdocs synergic3 Document SLD v010.xsd here and explained in the http www2.umoncton.ca cfdocs synergic3 Document SLD 202 200 20XML 20Binding 20v017 2015 03 2010.pdf XML Binding Document . References div class references small references div DEFAULTSORT Simple Learning Design 2.0 Category Virtual learning environments ...   more details



  1. Dentinogenesis imperfecta

    Cleanup date November 2007 Infobox Disease Name Dentinogenesis imperfecta Image 1471 2350 8 52 2 l.jpg Caption DiseasesDB ICD10 ICD10 K 00 5 k 00 ICD9 ICD9 520.5 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D003811 Dentinogenesis imperfecta hereditary Opalescent Dentin is a genetic disorder of tooth development . This condition causes teeth to be discolored most often a blue gray or yellow brown color and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary baby teeth and permanent teeth. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. Types Types of dentinogenesis imperfecta with similar dental formalities usually an autosomal dominant trait with variable expressivity but can be recessive if the associated osteogenesis imperfecta is of recessive type. This type is no l Type II Occurs in people without other inherited disorders i.e. Osteogenesis imperfecta .It is an autosomal dominant trait. A few families with type II have progressive hearing loss in addition to dental abnormalities. Mutations in the DSPP gene have been identified in people with type II and type III dentinogenesis imperfecta. Type I occurs as part of osteogenesis imperfecta. Clinical features Clinical appearance is variable. However, the teeth usually involved and more severely affected are deciduous teeth in type 1 whereas in type 2 both the dentitions are equally affected. The teeth may be gray to yellowish brown. They exhibit translucent or opalescent hue. Enamel is usually lost early due to loss of scalloping at the Dental enamel junction DEJ . However, the teeth are not more susceptible to dental caries than normal ones. Radiographic features Type I and II show total obliteration of the pulp chamber. Type III shows thi ...   more details



  1. Arnold Ap

    , University of Chicago, access to limited cultural expressivity facilitates images of tolerance ...   more details



  1. Christopher Gayford

    Christopher Gayford born 1963 , is an England English Conducting conductor . ref name The CPSO Cite web author title Christopher Gayford url http www.cpso.org.uk Performer.aspx?performerid 31 publisher The CPSO date accessdate 1 September 2009 ref Biography Born in Wilmslow , Gayford studied at the Royal College of Music and the Royal Northern College of Music . ref name The Royal Institution Cite web author title Christopher Gayford url http www.rigb.org contentControl?action displayContent&id 00000002966 publisher The Royal Institution date accessdate 1 September 2009 ref His international career started after winning the second place of the Cadaqu s Orchestra International Conducting Competition and sharing a first prize at the International Besan on Competition for Young Conductors . ref name Benslow Music Trust Cite web author title Christopher Gayford url http www.benslow.org residential music courses.php?pg 1&biog 147&item 104 publisher Benslow Music Trust date accessdate 1 September 2009 ref These competitions led to conducting engagements in Spain, Austria, Germany, Poland, Italy Australia and France. ref name The CPSO ref name Benslow Music Trust He served as assistant conductor of the Royal Liverpool Philharmonic Orchestra and has been invited to conduct the Royal Opera House Orchestra of the Royal Opera House , BBC Philharmonic , BBC Scottish Symphony Orchestra , Vienna Chamber Orchestra , BBC Concert Orchestra , Britten Sinfonia , and Opera North among others. He currently conducts the City of Sheffield Youth Orchestra. ref name The CPSO ref name Benslow Music Trust He has been a research fellow at the Trinity College of Music , collaborating with psychologists in the research of expressivity in performance and the processes through which music triggers emotion . ref name The Royal Institution References Reflist 1 Use dmy dates date September 2010 Persondata NAME Gayford , Christopher ALTERNATIVE NAMES SHORT DESCRIPTION Conductor DATE OF BIRTH 1963 PLAC ...   more details



  1. Display rules

    expressivity, but guidelines that are culture specific, to be unified socially and in a conforming consensus to cultural norms. As the complexity of our society broadens so does our expressivity to an assortment ... divergence in the display of emotions to distinguish and maintain status which illustrates strains of expressivity ...   more details



  1. PRPF31

    of two wild type alleles, a high expressivity allele and a low expressivity allele. If a patient has a mutant allele and a high expressivity allele, they do not show disease phenotype. If a patient has a mutant allele and a low expressivity allele, the residual level of protein falls beneath ... RP11 and association with a unique bimodal expressivity phenotype. journal Am. J. Hum. Genet. volume ...   more details



  1. X-linked hypophosphatemia

    disorders usually show higher expressivity in males than females. As the X chromosome is one of the sex ...   more details



  1. Andrei Droznin

    better but to express better expressivity has many steps...because we are stuck in cages, based in fear ...   more details



  1. Sea-blue histiocytosis

    Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 D76.3 ILDS D76.330 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Sea blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. ref name Andrews cite book author James, William D. Berger, Timothy G. et al. title Andrews Diseases of the Skin clinical Dermatology publisher Saunders Elsevier location year 2006 pages isbn 0 7216 2921 0 oclc doi accessdate ref rp 720 Causes It can be associated with the gene Apolipoprotein E APOE . ref name pmid16094309 cite journal author Faivre L, Saugier Veber P, Pais de Barros JP, et al title Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation journal Eur. J. Hum. Genet. volume 13 issue 11 pages 1186 91 year 2005 month November pmid 16094309 doi 10.1038 sj.ejhg.5201480 ref It can also be acquired. ref name pmid11732877 cite journal author Candoni A, Grimaz S, Doretto P, Fanin R, Falcomer F, Bembi B title Sea blue histiocytosis secondary to Niemann Pick disease type B a case report journal Ann. Hematol. volume 80 issue 10 pages 620 2 year 2001 month October pmid 11732877 doi 10.1007 s002770100354 url http link.springer.de link service journals 00277 bibs 1080010 10800620.htm ref Sea blue histiocyte syndrome is seen in patients receiving fat emulsion as a part of long term parenteral nutrition TPN for intestinal failure. Pathophysiology and presentation The high lipid content in the blood leads to excessive cytoplasm loading of lipids within histiocytes. The subsequent incomplete degradation of these lipids leads to the formation of cytoplasmic lipid pigments. High lipid content may also cause membrane abnormality of the hemopoietic cells which is recognized by macrophages and therefore, increased accumulation within the bone marrow. These lipid laden histiocytes appear blue with May Giemsa ref na ...   more details



  1. Bazex?Dupré?Christol syndrome

    Infobox Disease Name Bazex Dupre Christol syndrome Image Caption DiseasesDB 34543 ICD10 ICD9 ICDO OMIM 301845 MedlinePlus eMedicineSubj eMedicineTopic MeshID Bazex Dupre Christol syndrome also known as Bazex syndrome, ref name Bolognia and Follicular atrophoderma and basal cell carcinomas ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref is a very rare condition inherited in an X linked dominant fashion. Physical findings typically include follicular atrophoderma , multiple basal cell carcinoma s, hypotrichosis and hypohidrosis . ref Bolognia,J 2008 Dermatology , Mosby, ISBN 9781416029991. ref This condition should not be confused with the unrelated condition Acrokeratosis paraneoplastica of Bazex , which may also be referred to Bazex syndrome. Genetics Double image right Xlink dominant mother.jpg 185 X link dominant father.jpg 185 X linked dominant inheritance works differently depending upon whether the mother left image or father right image is the carrier of a gene that causes a disease or disorder BCDS is inherited in an X linked dominant manner. This means the defective gene responsible for the disorder is located on the X chromosome, and only one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder. Males are normally Zygosity Hemizygous hemizygous for the X chromosome, having only one copy. As a result, X linked dominant disorders usually show higher expressivity in males than females. As the X chromosome is one of the sex chromosome s the other being the Y chromosome , X linked inheritance is determined by the gender of the parent carrying a specific gene and can often seem complex. This is because, typically, female s have two copies of the X chromosome, while male s have only one copy. The difference between Dominance genetics Dominan ...   more details



  1. Pauline Marcelle

    orphan date July 2010 DO NOT USE AUTOMATED REF CONVERSION. ANY SUCH CONVERSION SHOULD BE DONE BY HAND Infobox artist name Pauline Marcelle image benddownboutique02.jpg imagesize 220px caption Pauline Marcelle, Bend Down Boutique , 2008 birthname Pauline Marcelle birthdate Birth date and age 1964 07 21 mf y birthplace Calibishie , Dominica deathdate deathplace Dominica nationality United States American, Dominican field painting , photography , video and sculpture training University of Applied Arts, Vienna influenced Chris Ofili , Bruce Nauman , Chris Burden , Shirin Neshat works Paradogs, 2000 br The Eatings, 2006 Pauline Marcelle born 21 July 1964 in Dominica , West Indies is a contemporary Caribbean artist. Life Marcelle studied at the University of Applied Arts Vienna University for Applied Arts in Vienna, Austria in the 1990s and is primarily known for her works in painting and video . Her works reflects much on the thematic subject of human meetings and encounters, their variety, interaction and influential effects of the social surrounding, to which they are subjected. Pauline Marcelle is primarily known for her strong expressive paintings, in which she connects the intensity of modern art with the expressivity and figuration of her Caribbean origin. She lives and works in Dominica and Vienna, Austria . ref http www.basis wien.at cgi bin browse.pl?t fipo.tpl&fipoid 52878 Database entry in Basis Wien ref ref http derstandard.at fs 1252037002115 Globales Strandgut Article in derStandard about current exhibition Globales Strandgut ref ref http www.nacpool.at projects pauline marcelle Featured artist with Hebres Partner ref ref http www.artfacts.net en artist pauline marcelle 82876 profile.html Database entry in ArtFacts ref ref http www.burgtheater.at Content.Node2 home magazin vorspiel Vorspiel16.pdf Reference for Visuals at Burgtheater Wien ref ref http books.google.com books?id BQyakcstEWoC&pg PA17&lpg PA17&dq Pauline Marcelle&source bl&ots USN9B63jQT&sig Mc8 ...   more details




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