Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption von Tassano, E., Ronchetto, P., Severino, M., Divizia, M.T., Lerone, M., Uccella, S., Nobili, L., Tavella, E., Morerio, C., Coviello, D., Malacarne, M.

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17q23.3 de novo microdeletion involving only TANC2 gene: A new case von Tassano, E., Accogli, A., Ronchetto, P., Tortora, D., Tavella, E., Gimelli, G., Mancardi, M., Malacarne, M., Coviello, D.A.

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Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia von Gimelli, S., Cuoco, C., Ronchetto, P., Gimelli, G., Tassano, E.

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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease von Romeo, Giovanni, Ronchetto, Patrizia, Luo, Yin, Barone, Virginia, Seri, Marco, Ceccherini, Isabella, Pasini, Barbara, Bocciardi, Renata, Lerone, Margherita, Kääriäinen, Helena, Martucciello, Giuseppe

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Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations von Estivill, Xavier, Bancells, Consol, Ramos, Cristina

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Analysis of ΔF508 does not confirm a previously reported recombination in a cystic fibrosis family von DEVOTO, M, RONCHETTO, P, ROMANO, L, ROMEO, G

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Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution von RENDINE, S., CALAFELL, F., CAPPELLO, N., GAGLIARDINI, R., CARAMIA, G., RIGILLO, N., SILVETTI, M., ZANDA, M., MIANO, A., BATTISTINI, F., MARIANELLI, L., TACCETTI, G., DIANA, M. C., ROMANO, L., ROMANO, C., GIUNTA, A., PADOAN, R., PIANAROLI, A., RAIA, V., DE RITIS, G., BATTISTINI, A., GRZINCICH, G., JAPICHINO, L., PARDO, F., ANTONELLI, M., QUATTRUCCI, S., LUCIDI, V., CASTRO, M., SANTINI, B., CASTELLO, M., GUANTI, G., LEONI, G. B., CAO, A., TOFFOLI, C., LUCCI, E., VULLO, C., TORRICELLI, F., SBERNINI, F., ROMEO, G., RONCHETTO, P., SEIA, M., ROSSI, A., FERRARI, M., CREMONESI, L., SALVATORE, F., CASTALDO, G., D'ALCAMO, E., MAGGIO, A., SANGIUOLO, F., DALLAPICCOLA, B., MACERATESI, P., BISCEGLIA, L., GASPARINI, P., CARBONARA, A., BONIZZATO, A., CABRINI, G., BOMBIERI, C., PIGNATTI, P. F., BORGO, G., CASTELLANI, C., VILLANI, A., ARDUINO, C., SALVATORE, D., MASTELLA, G., PIAZZA, A.

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Supplementary Material for: Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Se... von Tassano, E., Gamucci, A., Celle, M.E., Ronchetto, P., Cuoco, C., Gimelli, G.

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Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes von Cremonesi, Laura, Ferrari, Maurizio, Belloni, Elena, Magnani, Carmelina, Seia, Manuela, Ronchetto, Patrizia, Rady, Magdy, Russo, Maria Pia, Romeo, Giovanni, Devoto, Marcella

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Screening for non-deltaF508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy von DEVOTO, M, RONCHETTO, P, FANEN, P, TELLERIA ORRIOLS, J. J, ROMEO, G, GOOSSENS, M, FERRARI, M, MAGNANI, C, SEIA, M, CREMONESI, L

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A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene von Ronchetto, Patrizia, Telleria Orriols, Juan Jose, Fanen, Pascale, Cremonesi, Laura, Ferrari, Maurizio, Magnani, Carmelina, Seia, Manuela, Goossens, Michel, Romeo, Giovanni, Devoto, Marcella

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Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy von Devoto, M, Ronchetto, P, Fanen, P, Orriols, J J, Romeo, G, Goossens, M, Ferrari, M, Magnani, C, Seia, M, Cremonesi, L

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Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients von Cremonesi, L, Ruocco, L, Seia, M, Russo, S, Giunta, A, Ronchetto, P, Fenu, L, Romano, L, Devoto, M, Romeo, G

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Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution von RENDINE, S., CALAFELL, F., CAPPELLO, N., GAGLIARDINI, R., CARAMIA, G., RIGILLO, N., SILVETTI, M., ZANDA, M., MIANO, A., BATTISTINI, F., MARIANELLI, L., TACCETTI, G., DIANA, M. C., ROMANO, L., ROMANO, C., GIUNTA, A., PADOAN, R., PIANAROLI, A., RAIA, V., RITIS, G., BATTISTINI, A., GRZINCICH, G., JAPICHINO, L., PARDO, F., ANTONELLI, M., QUATTRUCCI, S., LUCIDI, V., CASTRO, M., SANTINI, B., CASTELLO, M., GUANTI, G., LEONI, G. B., CAO, A., TOFFOLI, C., LUCCI, E., VULLO, C., TORRICELLI, F., SBERNINI, F., ROMEO, G., RONCHETTO, P., SEIA, M., ROSSI, A., FERRARI, M., CREMONESI, L., SALVATORE, F., CASTALDO, G., D'ALCAMO, E., MAGGIO, A., SANGIUOLO, F., DALLAPICCOLA, B., MACERATESI, P., BISCEGLIA, L., GASPARINI, P., CARBONARA, A., BONIZZATO, A., CABRINI, G., BOMBIERI, C., PIGNATTI, P. F., BORGO, G., CASTELLANI, C., VILLANI, A., ARDUINO, C., SALVATORE, D., MASTELLA, G., PIAZZA, A.

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No Evidence for Segregation Distortion of Cystic Fibrosis Alleles among Sibs of Cystic Fibrosis Patients

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Preliminary results on the frequency of the delta F508 mutation in cystic fibrosis patients from the USSR von Ronchetto, P, Devoto, M, Puliti, A, Romeo, G, Sokolov, B, Kalinin, V N, Vorsanova, S G, Krainiaia, G V, Reznik, B Y

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Analysis of delta F508 does not confirm a previously reported recombination in a cystic fibrosis family von Devoto, M, Ronchetto, P, Romano, L, Romeo, G

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HOME RULE IN OREGON von Ronchetto, John P, Woodmansee, Wayne

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Reduced Exposure to PM10 and Attenuated Age-Related Decline in Lung Function von Downs, Sara H, Schindler, Christian, Liu, L.-J. Sally, Keidel, Dirk, Bayer-Oglesby, Lucy, Brutsche, Martin H, Gerbase, Margaret W, Keller, Roland, Künzli, Nino, Leuenberger, Philippe, Probst-Hensch, Nicole M, Tschopp, Jean-Marie, Zellweger, Jean-Pierre, Rochat, Thierry, Schwartz, Joel, Ackermann-Liebrich, Ursula

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Improvements in PM10 Exposure and Reduced Rates of Respiratory Symptoms in a Cohort of Swiss Adults (SAPALDIA) von Schindler, Christian, Keidel, Dirk, Gerbase, Margaret W, Zemp, Elisabeth, Bettschart, Robert, Brandli, Otto, Brutsche, Martin H, Burdet, Luc, Karrer, Werner, Knopfli, Bruno, Pons, Marco, Rapp, Regula, Bayer-Oglesby, Lucy, Kunzli, Nino, Schwartz, Joel, Liu, Lee-Jane S, Ackermann-Liebrich, Ursula, Rochat, Thierry, SAPALDIA Team

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