R. R. Rossfi G. Shapiro

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The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). Mutations in(More)
Subcutaneous immunoglobulin (SCIg) replacement therapy for primary immune deficiency disease (PIDD) is a safe, effective, and convenient alternative to intravenous Ig (IVIg) therapy. Although SCIg is typically administered weekly by infusion pump, administration by a rapid push technique may provide a greater degree of convenience. Rapid push administration(More)
Letter detection typically is faster and more accurate in words than nonwords. Experiments 1, 2, and 3 tested the robustness of the word superiority effect using rapid serial visual presentation of words or nonwords. Letter detection was better in words even when the six-letter items were presented one after the other at rapid rates, up to about 10 items(More)
The purpose of this study was to quantify the effect of variation in calcium intake, with and without supplemental phosphorus, on growth and bone development in growing animals under conditions of varying calcium and phosphorus deficiency. Nine groups of weanling male rats were fed a diet nutritionally complete, except for calcium and phosphorus, for 28(More)
Total displacement of vitreous by an expanding bubble of a perfluorocarbon gas was studied in cynomolgus monkeys. The clinical observations and the gross dissection suggested that cortical vitreous might have been stripped from the retina; however, electron microscopy of frozen sections demonstrated that the collagen structure of the vitreous was compressed(More)
By making use of the techniques of power spectrum analysis and simple linear filtering procedures, it is shown that the amplitude of the 27-day variation of the geomagnetic disturbance index Ci is subject to a significant semiannual modulation. It is also shown that there is no amplitude modulation of this component with other periods such as the annual or(More)
Micromethods for measurement of plasma renin concentration (PRC) and plasma renin-substrate concentration (PSC) have been developed for rat plasma with radioimmunoassay of angiotensin I. An improved technique for aortic implantation of plastic cannulas was developed for use in experiments 1-2 wk in duration. The effects on components of renin system of(More)
A simple linear smoothing operator of general order p is constructed for discretized functions. It is particularly suited for problems in numerical integration where it is necessary or desirable to suppress two-grid-interval waves. The operator is ideal in the sense that for the class of damping operators of order p, which remove two-gridinterval waves(More)
-Two-photon production of the charmonium state xc has been studied by the TPC/Two-Gamma experiment at the SLAC e+e-collider PEP. We observe evidence of the xc2 state in the channel yy + ~~2, xc2 +-yJ/$, J/T/I + l+l-and obtain a value of lYrr(xc2) = 3.4 f 1.7 f 0.9 keV. This is the first observation of the two-photon production of a xc state. Comparison is(More)