نتایج جستجو برای: x linked diseases
تعداد نتایج: 1596385 فیلتر نتایج به سال:
GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal ab...
Recent work on the Neandertal genome has raised the possibility of admixture between Neandertals and the expanding population of Homo sapiens who left Africa between 80 and 50 Kya (thousand years ago) to colonize the rest of the world. Here, we provide evidence of a notable presence (9% overall) of a Neandertal-derived X chromosome segment among all contemporary human populations outside Africa...
Our natural language understanding system outputs a list of diseases, findings, and appliances found in a chest x-ray report. The system described in this paper links those diseases and findings that are causally related. Using Bayesian networks to model the conceptual and diagnostic information found in a chest x-ray we are able to infer more specific information about the findings that are li...
1. Carlsen NL, Krasilnikoff PA, Eiken M. Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1-alpha-OH-cholecalciferol intoxication. Acta Paediatr Scand 73(1):149–54, 1984 2. Currarino G. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. Pediatr Radiol 37(8):805–12, 2007 3. Freudlsperger C, Hoffmann J, Castrillon-Oberndorfer...
1. Carlsen NL, Krasilnikoff PA, Eiken M. Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1-alpha-OH-cholecalciferol intoxication. Acta Paediatr Scand 73(1):149–54, 1984 2. Currarino G. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. Pediatr Radiol 37(8):805–12, 2007 3. Freudlsperger C, Hoffmann J, Castrillon-Oberndorfer...
The relationship between the loss of connexin 32 function and clinical manifestations of X-linked Charcot-Marie-Tooth (CMTX) disease is unknown. Here, we report that eight of nine CMTX mutations investigated form channels with measurable electrical conductance. Single-channel studies of two mutations demonstrate reduced junctional permeability caused by a decrease in either pore size (S26L) or ...
wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia (xlt) that presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...
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