Title: Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease Author:Luo, Yin Contributor:Ceccherini, Isabella; Pasini, Barbara; Matera, Ivana; Bicocchi, M.Patrizia; Barone, Virginia; Bocclardi, Renata; Kääriänen, Helena; Weber, Daniel; Devoto, Marcella; Romeo, Giovanni Subject:Articles Description:
Tight linkage with the RET proto-oncogene (Zmax = 3.41 at θ = 0.00), analysis of recombinants and detection of a familial microdeletion in a large pedigree restrict the mapping of the Hirschsprung (HSCR) gene previously localized on proximal 10q. The molecular characterization of the familial microdeletion and of 3 additional cytogenetically visible de novo deletions, isolated in somatic cell hybrids, identify a smallest region of overlap of 250 Kb. This contains the RET proto-oncogene where missense mutations causing multiple endocrine neoplasia type 2A (MEN 2A) phenotype were recently found. The pentagastrin test (which detects preclinical forms of MEN 2A or B) is negative in adult HSCR patients with deletions of the RET gene. This represents a good candidate for the search of mutations causing HSCR
Human Molecular Genetics. - 1993/2/11/1803-1808
Host document:Human Molecular Genetics Identifier:
Title: Whale watching: effects of strong signals on Lippmann style seismometers Author:Romeo, Giovanni Subject:Feedback seismometer ; Lippmann method ; Single-coil feedback ; PSPICE simulation ; Seismometer saturation Description:
In 1982, Erich Lippmann patented a brilliant method to extend the frequency response of seismometers with an electromagnetic transducer. Adopted by Lennartz Electronic, this single-coil velocity-feedback strategy appears in a large part of the German company production. In case of strong signals from near events, seismometers using the Lippmann method may produce recordings with a characteristic ‘whale-shape’. The article examines the Personal Simulation Program with Integrated Circuit Emphasis (PSPICE) model of an S13 seismometer treated with the Lippmann method, as well as a prototype built in INGV, and shows the effect of strong signals on them.
Is part of:
Journal of Seismology, 2012, Vol.16(1), pp.25-34
1383-4649 (ISSN); 1573-157X (E-ISSN); 10.1007/s10950-011-9246-7 (DOI)
Title: Deconvolving seismic signals with a SPICE model of the seismometer Author:Romeo, Giovanni Subject:Seismometer ; pSPICE model ; Deconvolution ; Coulomb damping Description:
Every transducer needs some deconvolution operation to return the original signal. In the seismometer’s case, this is usually done by using the pole-zero instrument models. This method assumes that the seismometer can be described by a linear model that can be schematized by a ratio of polynomials of the Laplace variable s . This paper shows a deconvolution method that uses the mechanic-electric model of a transducer. Such a model can also give a better description of a transducer since it can also take into account nonlinear behavior which cannot be included in pole-zero models. Examples of deconvolution of both linear and nonlinear transfer functions are shown, and some considerations about friction damping and the electromechanical analogies used to perform the simulations are included in the appendix.
Is part of:
Journal of Seismology, 2014, Vol.18(3), pp.533-541
1383-4649 (ISSN); 1573-157X (E-ISSN); 10.1007/s10950-014-9425-4 (DOI)
Title: Challenges and common weaknesses in case-control studies on drug use and road traffic injury based on drug testing of biological samples Author:Gjerde, Hallvard; Romeo, Giovanni; Mørland, Jørg Subject:Medicine ; Public Health Description:
Purpose: To determine and discuss common weaknesses and errors in case-control studies on the association between drug use and road traffic crash injury among drivers and recommend improvements for future studies. Methods: A search for case-control studies published between 2000 and 2016 was performed using PubMed and other databases in addition to manual search. The used methodologies were compared with requirements and recommendations for case-control studies as well as current knowledge on the interpretation of drug concentrations in biological samples. Results: Seventeen studies were identified. The major difficulties in the studies were related to likely selection bias, information bias, and confounding. In some studies, the definition of drug exposure was different for controls than for cases, generating potentially serious errors in the odds ratio estimations. Other weaknesses include lacking explanation of the assessment of drug exposure, missing covariates, lacking...
Is part of:
Annals of epidemiology, 2018
1047-2797 (ISSN); 1873-2585 (E-ISSN); 10.1016/j.annepidem.2018.08.006 (DOI)
Validation of the Italian version of the Oxford Ankle Foot Questionnaire for children
Martinelli, Nicolò, Romeo, Giovanni, Bonifacini, Carlo, Viganò, Marco, Bianchi, Alberto, Malerba, Francesco
Quality of Life Research, 2016, Vol.25(1), pp.117-123
[Peer Reviewed Journal]