Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption
Tassano, E., Ronchetto, P., Severino, M., Divizia, M.T., Lerone, M., Uccella, S., Nobili, L., Tavella, E., Morerio, C., Coviello, D., Malacarne, M.
Published in Bone (New York, N.Y.) (01.09.2021)
Published in Bone (New York, N.Y.) (01.09.2021)
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17q23.3 de novo microdeletion involving only TANC2 gene: A new case
Tassano, E., Accogli, A., Ronchetto, P., Tortora, D., Tavella, E., Gimelli, G., Mancardi, M., Malacarne, M., Coviello, D.A.
Published in European journal of medical genetics (01.12.2020)
Published in European journal of medical genetics (01.12.2020)
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Journal Article
Analysis of ΔF508 does not confirm a previously reported recombination in a cystic fibrosis family
DEVOTO, M, RONCHETTO, P, ROMANO, L, ROMEO, G
Published in American journal of human genetics (01.05.1990)
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Published in American journal of human genetics (01.05.1990)
Journal Article
Phenotypic intrafamilial heterogeneity in cystic fibrosis
Borgo, G, Cabrini, G, Mastella, G, Ronchetto, P, Devoto, M, Romeo, G
Published in Clinical genetics (01.07.1993)
Published in Clinical genetics (01.07.1993)
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Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population
Magnani, C, Cremonesi, L, Belloni, E, Ferrari, M, Seia, M, Russo, M P, Devoto, M, Ronchetto, P, Romeo, G
Published in Clinical genetics (01.03.1994)
Published in Clinical genetics (01.03.1994)
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Journal Article
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
Romeo, Giovanni, Ronchetto, Patrizia, Luo, Yin, Barone, Virginia, Seri, Marco, Ceccherini, Isabella, Pasini, Barbara, Bocciardi, Renata, Lerone, Margherita, Kääriäinen, Helena, Martucciello, Giuseppe
Published in Nature (London) (27.01.1994)
Published in Nature (London) (27.01.1994)
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DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
Ceccherini, I, Hofstra, R M, Luo, Y, Stulp, R P, Barone, V, Stelwagen, T, Bocciardi, R, Nijveen, H, Bolino, A, Seri, M
Published in Oncogene (01.10.1994)
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Published in Oncogene (01.10.1994)
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New restriction fragment length polymorphism (probe E9) reveals the highest linkage disequilibrium in Italian CF patients
Devoto, M, De Benedetti, L, Ronchetto, P, Romano, L, Romeo, G, Tsui, L C, Dean, M, Collins, F, Seia, M, Piceni Sereni, L
Published in Acta Universitatis Carolinae. Medica (1990)
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Published in Acta Universitatis Carolinae. Medica (1990)
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Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
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.
Published in Annals of human genetics (01.09.1997)
Published in Annals of human genetics (01.09.1997)
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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
Cremonesi, L, Ferrari, M, Belloni, E, Magnani, C, Seia, M, Ronchetto, P, Rady, M, Russo, M P, Romeo, G, Devoto, M
Published in Human mutation (1992)
Published in Human mutation (1992)
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Screening for non-deltaF508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy
DEVOTO, M, RONCHETTO, P, FANEN, P, TELLERIA ORRIOLS, J. J, ROMEO, G, GOOSSENS, M, FERRARI, M, MAGNANI, C, SEIA, M, CREMONESI, L
Published in American journal of human genetics (1991)
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Published in American journal of human genetics (1991)
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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
Ronchetto, Patrizia, Telleria Orriols, Juan Jose, Fanen, Pascale, Cremonesi, Laura, Ferrari, Maurizio, Magnani, Carmelina, Seia, Manuela, Goossens, Michel, Romeo, Giovanni, Devoto, Marcella
Published in Genomics (San Diego, Calif.) (01.02.1992)
Published in Genomics (San Diego, Calif.) (01.02.1992)
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Journal Article
Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy
Devoto, M, Ronchetto, P, Fanen, P, Orriols, J J, Romeo, G, Goossens, M, Ferrari, M, Magnani, C, Seia, M, Cremonesi, L
Published in American journal of human genetics (01.06.1991)
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Published in American journal of human genetics (01.06.1991)
Journal Article
Frequency of cystic fibrosis mutations among Italian patients
Ronchetto, P, Fenu, L, Puliti, A, Devoto, M, Romano, L, Romeo, G, Cremonesi, L, Carrera, P, Ruocco, L, Seia, M
Published in Advances in experimental medicine and biology (1991)
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Published in Advances in experimental medicine and biology (1991)
Journal Article
Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
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.
Published in Annals of human genetics (01.09.1997)
Published in Annals of human genetics (01.09.1997)
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Journal Article
No Evidence for Segregation Distortion of Cystic Fibrosis Alleles among Sibs of Cystic Fibrosis Patients
Published in European journal of human genetics : EJHG
(01.09.1995)
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