The rotational and vibrational transitions of a hydrogen molecule weakly adsorbed on the Au(110) surface at 10 K were detected by inelastic electron tunneling spectroscopy with a scanning tunneling microscope. The energies of the j=0 to j=2 rotational transition for para-H(2) and HD indicate that the molecule behaves as a three-dimensional rigid rotor trapped within the tunnel junction. An increase in the bond length of H(2) was precisely measured from the downshift in the rotational energy as the tip-substrate distance decreases.

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Purpose: Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 (NF1) gene at 17q11.2. Approximately 5% of individuals with NF1 have a 1.4-Mb heterozygous 17q11.2 deletion encompassing NF1, formed through nonallelic homologous recombination (NAHR) between the low-copy repeats that flank this region. NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas. Although NAHR can also cause reciprocal microduplications, reciprocal NF1 duplications have been previously reported in just one multigenerational family and a second unrelated proband. methods:We analyzed the clinical features in seven individuals with NF1 microduplications, identified among 48,817 probands tested in our laboratory by array-based comparative genomic hybridization. Results:The only clinical features present in more than one individual were variable DD/ID, facial dysmorphisms, and seizures. No neurofibromas were present. Three sets of parents were tested: one duplication was apparently de novo, one inherited from an affected mother, and one inherited from a clinically normal father.conclusion: This is the first report comparing the phenotypes of nonrelated individuals with NF1 microduplications. This comparison will allow for further definition of this emerging microduplication syndrome.Genet Med 2012:14(5):508-514

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KEYWORDS: Nanocavity, nano-reactors, vibrational and rotational modes, scanning tunneling microscope, electronic density of states, van der Waals interaction. + These two authors contributed equally to this work.