منابع مشابه
Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders Affiliations
We introduce Phen-Gen, a method which combines patient’s disease symptoms and sequencing data with prior domain knowledge to identify the causative gene(s) for rare disorders. Simulations reveal that the causal variant is ranked first in 88% cases when it is coding; which is 52% advantage over a genotype-only approach and outperforms existing methods by 13-58%. If disease etiology is unknown, t...
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We examined somatic growth, somatosensory reflexes, and ultrasonic calls from postnatal day 3 to day 18 in Mecp2 mutant mice, a mouse model of Rett syndrome. Both Mecp2 null male and Mecp2 heterozygous female mice exhibited normal somatic growth, but transient delays in the development of some reflexes relative to sex-matched wild-type mice. Both Mecp2 null male and heterozygous female mice exh...
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BACKGROUND Autism is a neurologic disorder characterized by impaired communication and social interaction. Results of previous studies showed biochemical evidence for abnormal platelet reactivity and altered blood flow in children with autism. OBJECTIVE To evaluate the vascular phenotype in children with autism. DESIGN AND MAIN OUTCOME MEASURES Urinary levels of isoprostane F(2alpha)-VI, a ...
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One of the more intriguing puzzles in immunology is the genetic basis for control of murine T-cell I-J determinants. Molecules bearing I-J determinants (I-J molecules) play a role in information trafficking among immunocompetent cells, probably serving as self-recognition molecules that channel regulatory factors to their appropriate target cells. Although it is clear that I-J polymorphism is i...
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Over the years, a variety of diets and drugs for the treatment of obesity have come and gone. More recently, newspapers, radio, and television have featured the rise and fall of the latest appetite-suppressants, dexfenfluramine and the combination of fenfluramine and phentermine (fen/phen). The rise occurred after approval of dexfenfluramine by the Food and Drug Administration (FDA); the fall w...
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ژورنال
عنوان ژورنال: Fungal Genetics Reports
سال: 1963
ISSN: 1941-4765
DOI: 10.4148/1941-4765.2153