Search Results - "PIERRO, E"

The geographical and environmental determinants of genetic diversity for four alpine conifers of the European Alps by Mosca, E., Eckert, A. J., Di Pierro, E. A., Rocchini, D., La Porta, Nicola, Belletti, P., Neale, D. B.

“…Climate is one of the most important drivers of local adaptation in forest tree species. Standing levels of genetic diversity and structure within and among…”
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Laboratory diagnosis of thalassemia by Brancaleoni, V., Di Pierro, E., Motta, I., Cappellini, M. D.

“…Summary The thalassemias can be defined as α‐ or β‐thalassemias depending on the defective globin chain and on the underlying molecular defects. The…”
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On the vibro-acoustical operational modal analysis of a helicopter cabin by Pierro, E., Mucchi, E., Soria, L., Vecchio, A.

“…This paper aims to present a modal decomposition formulation for a vibro-acoustical operational modal analysis (OMA). In literature many works can be found on…”
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X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria by Brancaleoni, V., Balwani, M., Granata, F., Graziadei, G., Missineo, P., Fiorentino, V., Fustinoni, S., Cappellini, M.D., Naik, H., Desnick, R.J., Di Pierro, E.

“…X‐linked protoporphyria (XLP), a rare erythropoietic porphyria, results from terminal exon gain‐of‐function mutations in the ALAS2 gene causing increased ALAS2…”
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The Influence of the Fractal Dimension of Rough Surfaces on the Adhesion of Elastic Materials by Carbone, G., Pierro, E.

“…In this paper we analyse the adhesion between a rubber block and a rigid randomly rough profile. The focus of the investigation is on the influence of the work…”
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Transcranial color Doppler in stroke-free adult patients with sickle cell disease by Graziadei, G., Casoni, F. M., Annoni, F., Cortinovis, I., Ridolfi, P., Gandolfi, I., Marcon, A., Di Pierro, E., Cappellini, M. D.

“…The threshold velocity ≥200 cm/s at transcranial Doppler (TCD) evaluation is a useful cut-off for preventing the stroke (STOP trial) in pediatric patients with…”
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Tuning fork microgyrometers: Narrow gap vs. wide gap design by Soria, L., Pierro, E., Carbone, G., Contursi, T.

“…We analyse the performances of two different configurations of a tuning fork microgyrometer, the so called ‘wide gap’ design and ‘narrow gap’ design. In the…”
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A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait by Maakaron, J.E., Abdel Malak, O., Itani, S., Cappellini, M.D., Di Pierro, E., Brancaleoni, V., Granata, F., Taher, A.T.

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Stromal-Epithelial Interactions Modulate Estrogen Responsiveness in Normal Human Endometrium by PIERRO, Emilia, MINICI, Francesca, ALESIANI, Ornella, MICELI, Fiorella, PROTO, Caterina, SCREPANTI, Isabella, MANCUSO, Salvatore, LANZONE, Antonio

“…The coculture of endometrial epithelial cells (EEC) with stromal cells (ESC) allows achievement of an improved in vitro system for studying interactions…”
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Novel human pathological mutations. Gene symbol: CPOX. Disease: Coproporphyria by Ausenda, Sabrina, Di Pierro, E, Brancaleoni, V, Tavazzi, D, Cappellini, M D

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Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent by Besana, Valeria, Di Pierro, E, Brancaleoni, V, Sabrina, A, Fiocchi, M, Cappellini, M D

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Gene symbol: FECH. Disease: Porphyria, erythropoietic by Brancaleoni, Valentina, Di Pierro, E, Besana, V, Ausenda, S, Cappellini, M D

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Gene symbol: HMBS by Besana, V, Di Pierro, E, Brancaleoni, V, Ausenda, S, Cappellini, M D

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Gene symbol: CPOX by Ausenda, Sabrina, Di Pierro, E, Besana, V, Brancaleoni, V, Cappellini, M D

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Gene symbol: UROD by Brancaleoni, Valentina, Di Pierro, E, Ausenda, S, Besana, V, Cappellini, M D

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Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate by Ausenda, Sabrina, Moriondo, V, Marchini, S, Besana, V, Di Pierro, E, Brancaleoni, V, Ventura, P, Rocchi, E, Cappellini, M D

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Gene symbol: PPOX. Disease: Porphyria, variegate by Ausenda, Sabrina, Di Pierro, E, Besana, V, Brancaleoni, V, Cappellini, M D

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Gene symbol: FECH. Disease: Porphyria, Erythropoietic by Brancaleoni, Valentina, Di Pierro, E, Besana, V, Ausenda, S, Cappellini, M D

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Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria by Di Pierro, E, Brancaleoni, V, Moriondo, V, Besana, V, Cappellini, MD

“…Erythropoietic protoporphyria (EPP) is an autosomal dominant disease with incomplete penetrance due to reduced activity of ferrochelatase (FECH), a…”
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Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy by Di Pierro, E, Ventura, P, Brancaleoni, V, Moriondo, V, Marchini, S, Tavazzi, D, Nascimbeni, F, Ferrari, M C, Rocchi, E, Cappellini, M D

“…Variegate Porphyria (VP) is an autosomal dominant disorder found worldwide but is rare in Italy. In this study we provide an overview of clinical, biochemical…”
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