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Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation
(Freund Publishing House Ltd, 2008-08-01)
Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve ...
Bazex-Dupre-Christol syndrome in a 1-year-old boy and his mother
(BLACKWELL PUBLISHING, 2008)
Bazex - Dupre - Christol syndrome is a rare genodermatosis with cancer predisposition, characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations that ...
Gene Expression Profiling Identifies WNT7A As a Possible Candidate Gene for Decreased Cancer Risk in Fragile X Syndrome Patients
(2010)
Background and Aims: Although sporadic cases of cancer in patients with fragile X syndrome (FXS) have been reported, extensive studies carried out in Denmark and Finland concluded that cancer incidence in these patients ...
Gene Expression Profiling Identifies WNT7A As a Possible Candidate Gene for Decreased Cancer Risk in Fragile X Syndrome Patients
(2010)
Background and Aims: Although sporadic cases of cancer in patients with fragile X syndrome (FXS) have been reported, extensive studies carried out in Denmark and Finland concluded that cancer incidence in these patients ...
Planos nutricionais para desempenho regular, médio ou superior de frangos de corte em diferentes épocas do ano e idades de abate
(Universidade Estadual Paulista (Unesp), 2018-03-12)
A realização dos experimentos teve como objetivo avaliar as características produtivas e econômicas, o gait score e a qualidade óssea de duas linhagens de frangos de corte machos submetidas a planos nutricionais para ...
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
(Nature Publishing Group, 2018)
Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these ...
Chronic bryostatin‑1 rescues autistic and cognitive phenotypes in the fragile X mice
(Nature, 2020)
Fragile X syndrome (FXS), an X-chromosome linked intellectual disability, is the leading monogenetic
cause of autism spectrum disorder (ASD), a neurodevelopmental condition that currently has no
specific drug treatment. ...
Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy
(Nature, 2021)
Fragile X syndrome (FXS), a disorder of synaptic development and function, is the most prevalent genetic form of intellectual disability and autism spectrum disorder. FXS mouse models display clinically-relevant phenotypes, ...