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BACKGROUND Pathogenic mutations in the X-linked Neuroligin 4 gene (NLGN4X) in autism spectrum disorders (ASDs) and/or mental retardation (MR) are rare. However, nothing is known regarding a possible altered expression level of NLGN4X that would be caused by mutations in regulatory sequences. We investigated this issue by analyzing these regions in patients(More)
Water stable isotopes in Greenland ice core data provide key paleoclimatic information, and have been compared with precipitation isotopic composition simulated by isotopically enabled atmospheric models. However, postdepositional processes linked with snow metamorphism remain poorly documented. For this purpose, monitoring of the isotopic composition(More)
[1] We report measurements of ablation rates of the bottom of two supraglacial lakes and of temperatures at different depths collected during the summers of 2010 and 2011 in west Greenland. To our knowledge, this is the first time that such data sets are reported and discussed in the literature. The measured ablation rates at the bottom of the two lakes are(More)
A high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of autism. A previous study on a Tunisian boy carrying a t(7;16) translocation identified the 7p22.1 as a positional candidate region for autism on chromosome 7. The(More)
The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced(More)
Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated in families and twin studies. About 5-10% of autism cases are associated with chromosomal abnormalities or monogenic disorders. The(More)
Autism is a pervasive developmental disorder characterised by impairment in social interaction and in communication, with unusual behaviour. Genetic factors are predominant in autism pathogenesis. Interactions between multiple genes cause "idiopathic" autism but epigenetic factors and exposure to environmental modifiers may contribute to variable expression(More)
We have investigated the chromosome abnormalities in a female patient exhibiting mild nonsyndromic mental retardation. The patient carries a de novo balanced reciprocal translocation 46,XX,t(2;7)(q24.1;q36.1). Physical mapping of the breakpoints by fluorescent in situ hybridization experiments revealed the disruption of the GPD2 gene at the 2q24.1 region.(More)
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