mental retardation
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
... without mental retar- dation ...of mental retardation and were given a de Vries score (a check list for subtelomeric imbalances) ...of mental retar- dation could not be determined for all ...
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Characterization of the SUMO-binding activity of the myeloproliferative and mental retardation (MYM)-type zinc fingers in ZNF261 and ZNF198.
... SUMO-binding proteins interact with SUMO modified proteins to mediate a wide range of functional consequences. Here, we report the identification of a new SUMO-binding protein, ZNF261. Four human proteins including ...
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Regulatory BC1 RNA and the fragile X mental retardation protein: convergent functionality in brain.
... Background: BC RNAs and the fragile X mental retardation protein (FMRP) are translational repressors that have been implicated in the control of local protein synthesis at the synapse. Work with BC1 and ...
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Characterization of fragile X mental retardation protein recruitment and dynamics in Drosophila stress granules.
... X Mental Retardation (FMRP) is an evolutionarily conserved protein that is particularly abundant in the brain due to its high expression in neurons ...hereditary mental re- tardation ...
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Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome
... with mental retardation are often a diagnostic challenge for general neurologists, since sev- eral genetic and inborn metabolic diseases present this clinical ...by mental retar- dation, marfanoid ...
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Structure and stability upon maternal transmission of common and intermediate FMR1( Fragile X Mental Retardation 1
... linked mental retardation disorder affecting ~1 in 4,000 males and ~1 in 8,000-9,000 females (Crawford et ...Fragile-X Mental Retardation 1 gene (FMR1) was cloned in 1991 (Oberlé et ...
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Rubinstein – Taybi in Syndrome a Peruvian patient with mild mental retardation: A case report / Síndrome de Rubinstein - Taybi em um paciente Peruano com leve retardo mental: Um relato de caso
... (typical species, hand with enlarged thumb, anal sounds in the speech attempt) and genetically (karyotype). Even with this early diagnosis and the beginning of treatment, clinical repercussions are still present: deficit ...
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High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1
... and mental retardation occurred in ...neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted ...
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High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies.
... Genetic investigations of X-linked intellectual disabilities have implicated the ARX (Aristaless-related homeobox) gene in a wide spectrum of disorders extending from phenotypes characterised by severe neuronal migration ...
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Chromosomal investigations in patients with mental retardation andor congenital malformations
... with mental retardation and/or congenital malformations in order to determine genetic causes for such ...with mental retardation and/or congenital malformations who were analyzed there were 12 ...
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Burden of Mild Mental Retardation attributed to prenatal methylmercury exposure in Amazon: local and regional estimates Carga de Retardo Mental Leve atribuída à exposição pré-natal ao metilmercúrio na Amazônia: estimativas local e regional
... tal Retardation, this diagnosis is configured when the individual has a low IQ and adaptive ...of mental retardation and it is estimated that 85% of cases are of mild type (MMR), which has an ...
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Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein.
... Retardation X-related). ATRX is localized on the X chromosome in position Xq13.1–q21.1. Individuals with mutations in this gene present several phenotypic charateristics that may include mental ...
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Development programme motor function of children with mental retardation
... Annotation. Purpose: to study the rehabilitation program recovery of motor function of children with mental retardation. Material-methods: the study involved 19 students from primary diagnosis - ...
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Toward accelerated progress in combatting mental retardation
... two Nobel laureates, several highly respected scientists within and outside the field of re- tardation, and equally competent clinicians and administrators. I had the privile[r] ...
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Failed stabilization for long-term potentiation in the auditory cortex of FMR1 knockout mice.
... Fragile X syndrome (FXS) is the most common cause of heritable mental retardation. Expansion of trinucleotide CGG repeats in the Fmr1 gene results in hypermethylation and loss-of- function of the gene [1]. ...
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Genes involved in the development of autism
... with mental retardation and those having high cognitive potential that even having deficit in social interaction with repetitive and stereotyped behaviours, do not show retardation in speech ...
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FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region
... In our patient, besides an apparently balanced recip- rocal 11p;13q translocation, several 11p cosmids showed an associated deletion extending over approximately 7.5 Mb which included the ~800 kb of the WAGR contiguous ...
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Rev. Bras. Psiquiatr. vol.28 suppl.1 en a05v28s1
... of mental retardation and/or pervasive developmental disabilities, EN2 has emerged as a strong candidate for association with the autism phenotype, and a linkage region on chromosome 17q has been confirmed ...
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J. Pediatr. (Rio J.) vol.80 número5 en v80n5a16
... of mental retardation, I understand the author to mean to highlight exposure to teratogens 6 during the prenatal period and not toxins as one cause, is this correct? Still on this item, we have emphasis ...
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Rev. Bras. Psiquiatr. vol.24 número4
... mild mental retardation are kept in regular schools which are not prepared to give them the appropriate pedagogical work, and, consequently, they repeat the grade year after year until dropping out of ...
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