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3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M.

Gene. 2013 Mar 1;516(1):107-13. doi: 10.1016/j.gene.2012.12.073. Epub 2012 Dec 31.


Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.

Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G.

BMC Med Genet. 2012 Oct 4;13:93. doi: 10.1186/1471-2350-13-93.


Social memory, amnesia, and autism: brain oxytocin secretion is regulated by NAD+ metabolites and single nucleotide polymorphisms of CD38.

Higashida H, Yokoyama S, Huang JJ, Liu L, Ma WJ, Akther S, Higashida C, Kikuchi M, Minabe Y, Munesue T.

Neurochem Int. 2012 Nov;61(6):828-38. doi: 10.1016/j.neuint.2012.01.030. Epub 2012 Feb 13.


Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, Lintas C, Abramson RK, Wright HH, Ellis P, Langford CF, Worley G, Delong GR, Murphy SK, Cuccaro ML, Persico A, Pericak-Vance MA.

BMC Med. 2009 Oct 22;7:62. doi: 10.1186/1741-7015-7-62.


Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.

Cohen D, Martel C, Wilson A, Déchambre N, Amy C, Duverger L, Guile JM, Pipiras E, Benzacken B, Cavé H, Cohen L, Héron D, Plaza M.

J Autism Dev Disord. 2007 Sep;37(8):1585-91. Epub 2006 Sep 28. Erratum in: J Autism Dev Disord. 2007 Sep;37(8):1592.


A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.

Veltman MW, Thompson RJ, Craig EE, Dennis NR, Roberts SE, Moore V, Brown JA, Bolton PF.

J Autism Dev Disord. 2005 Feb;35(1):117-27.

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