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Fragile X syndrome and connective tissue dysregulation
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 ...
Skin fragility syndrome in a cat with cholangiohepatitis and hepatic lipidosis
(Kidlington, 2010)
A case of acquired skin fragility syndrome associated with hepatic disease in a 9-year-old, spayed female, domestic shorthair cat is described. The cat was admitted to the veterinary hospital of the University of São Paulo ...
Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
(Sociedad Médica de Santiago, 2008)
Background: Mental retardation or intellectual disability affects 2% ofthe general population, but in 60% to 70% of cases the real cause ofthis retardation is not known. An early etiologic diagnosis of intellectual disability ...
Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
(Sociedad Médica de Santiago, 2008)
Background: Mental retardation or intellectual disability affects 2% ofthe general population, but in 60% to 70% of cases the real cause ofthis retardation is not known. An early etiologic diagnosis of intellectual disability ...
Genetic screening to determine an etiologic diagnosis in children with mental retardation Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
(2008)
Mental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this retardation is not known. An early etiologic diagnosis of intellectual disability can ...
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
(2016)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor ...
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
(BioMed Central, 2019)
Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, ...
Autistic traits and mental health in women with the fragile-X premutation: maternal status versus genetic risk
(Cambridge University Press, 2021)
Background
Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. Aims To understand whether the FX-p confers risk for autistic traits, depression ...