Sfoglia per Autore
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer
2001-01-01 Benatti, Piero; Roncucci, Luca; Ganazzi, Dorval; Percesepe, Antonio; Di Gregorio, Carmela; Pedroni, Monica; Borghi, Francesca; Sala, Elisa; Scarselli, Alessandra; Menigatti, Mirco; Rossi, Giuseppina; Genuardi, Maurizio; Viel, Alessandra; De Leon, Maurizio Ponz
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation
2001-01-01 Ponz de Leon, M.; Varesco, L.; Benatti, P.; Sassatelli, R.; Izzo, P.; Scarano, M. I.; Rossi, G. B.; Di Gregorio, C.; Gismondi, V.; Percesepe, A.; De Rosa, M.; Roncucci, L.
Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer
2001-01-01 Lucci-Cordisco, Emanuela; Rovella, Valentina; Carrara, Stefania; Percesepe, Antonio; Pedroni, Monica; Bellacosa, Alfonso; Caluseriu, Oana; Forasarig, Mara; Anti, Marcello; Neri, Giovanni; De Leon, Maurizio Ponz; Viel, Alessandra; Genuardi, Maurizio
Microsatellite instability and mismatch-repair protein expression in hereditary and sporadic colorectal carcinogenesis
2001-01-01 Pedroni, M.; Sala, E.; Scarselli, A.; Borghi, F.; Menigatti, M.; Benatti, P.; Percesepe, A.; Rossi, G.; Foroni, M.; Losi, L.; Di Gregorio, C.; De Pol, A.; Nascimbeni, R.; Di Betta, E.; Salerni, B.; De Leon, M. P.; Roncucci, L.
Genes and translocations involved in POF
2002-01-01 Schlessinger, David; Herrera, Luisa; Crisponi, Laura; Mumm, Steven; Percesepe, Antonio; Pellegrini, Massimo; Pilia, Giuseppe; Forabosco, Antonino
Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis [2] (multiple letters)
2002-01-01 Andermann, Anne; Wong, Nora; Gordon, Philip; Macnamara, Elizabeth; Chong, George; Foulkes, William; Percesepe, Antonio; Ponz de Leon, Maurizio; Peltomäki, Päivi
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis
2002-01-01 Falcinelli, C; Iughetti, L; Percesepe, Antonio; Calabrese, G; Chiarelli, F; Cisternino, M; DE SANCTIS, L; Pucarelli, I; Radetti, G; Wasniewska, M; Weber, G; Stuppia, L; Bernasconi, Sergio; Forabosco, A.
Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases
2002-01-01 Mazza, V.; Falcinelli, C.; Percesepe, A.; Paganelli, S.; Volpe, A.; Forabosco, Andrea
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness
2004-01-01 Coviello, Domenico A.; Brambati, Bruno; Tului, Lucia; Percesepe, Antonio; Sironi, Francesca; Sahai, Achal; Bertorelli, Roberto; Forabosco, Antonino
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination
2005-01-01 Percesepe, Antonio; Ferrari, Maurizio; Coviello, Domenico; Zanussi, Monica; Castagni, Marina; Neri, Isabella; Travi, Maurizio; Forabosco, Antonino; Tedeschi, Silvana
Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe
2006-01-01 Stanghellini, I.; Bertorelli, R.; Capone, L.; Mazza, V.; Neri, C.; Percesepe, A.; Forabosco, A.
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype [1]
2007-01-01 Percesepe, Antonio; Lugli, Licia; Pierluigi, Mauro; Cavani, Simona; Malacarne, Michela; Roversi, Maria Federica; Ferrari, Fabrizio; Forabosco, Antonino
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases
2007-01-01 Mazza, Vincenzo; Pati, Mariangela; Bertucci, Emma; Re, Claudia; Ranzi, Andrea; Percesepe, Antonio; Forabosco, Antonino; Volpe, Annibale
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia [3]
2007-01-01 Bertorelli, R.; Capone, L.; Ambrosetti, F.; Garavelli, L.; Varriale, L.; Mazza, V.; Stanghellini, I.; Percesepe, Antonio; Forabosco, A.
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele
2008-01-01 Percesepe, Antonio; Bertucci, Emma; Ferrari, Paola; Lugli, Licia; Ferrari, Fabrizio; Mazza, Vincenzo; Forabosco, Antonino
Incidence of non-age-dependent chromosomal abnormalities: A population-based study on 88965 amniocenteses
2009-01-01 Forabosco, Antonino; Percesepe, Antonio; Santucci, Sandra
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues
2010-01-01 Mazza, Vincenzo; Latella, Silvia; Fenu, Valentina; Ferrari, Paola; Bonilauri, Carlotta; Santucci, Sandra; Percesepe, Antonio
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family
2011-01-01 Mazza, Vincenzo; Latella, Silvia; Pati, Mariangela; Re, Claudia; Bertucci, Emma; Cani, Carlotta; Percesepe, Antonio
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay
2011-01-01 Lugli, Licia; Malacarne, Michela; Cavani, Simona; Pierluigi, Mauro; Ferrari, Fabrizio; Percesepe, Antonio
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
2011-01-01 Grossi, Serena; Regis, Stefano; Biancheri, Roberta; Mort, Matthew; Lualdi, Susanna; Bertini, Enrico; Uziel, Graziella; Boespflug-Tanguy, Odile; Simonati, Alessandro; Corsolini, Fabio; Demir, Ercan; Marchiani, Valentina; Percesepe, Antonio; Stanzial, Franco; Rossi, Andrea; Vaurs-Barrière, Catherine; Cooper, David N; Filocamo, Mirella
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer | 1-gen-2001 | Benatti, Piero; Roncucci, Luca; Ganazzi, Dorval; Percesepe, Antonio; Di Gregorio, Carmela; Pedroni, Monica; Borghi, Francesca; Sala, Elisa; Scarselli, Alessandra; Menigatti, Mirco; Rossi, Giuseppina; Genuardi, Maurizio; Viel, Alessandra; De Leon, Maurizio Ponz | |
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation | 1-gen-2001 | Ponz de Leon, M.; Varesco, L.; Benatti, P.; Sassatelli, R.; Izzo, P.; Scarano, M. I.; Rossi, G. B.; Di Gregorio, C.; Gismondi, V.; Percesepe, A.; De Rosa, M.; Roncucci, L. | |
Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer | 1-gen-2001 | Lucci-Cordisco, Emanuela; Rovella, Valentina; Carrara, Stefania; Percesepe, Antonio; Pedroni, Monica; Bellacosa, Alfonso; Caluseriu, Oana; Forasarig, Mara; Anti, Marcello; Neri, Giovanni; De Leon, Maurizio Ponz; Viel, Alessandra; Genuardi, Maurizio | |
Microsatellite instability and mismatch-repair protein expression in hereditary and sporadic colorectal carcinogenesis | 1-gen-2001 | Pedroni, M.; Sala, E.; Scarselli, A.; Borghi, F.; Menigatti, M.; Benatti, P.; Percesepe, A.; Rossi, G.; Foroni, M.; Losi, L.; Di Gregorio, C.; De Pol, A.; Nascimbeni, R.; Di Betta, E.; Salerni, B.; De Leon, M. P.; Roncucci, L. | |
Genes and translocations involved in POF | 1-gen-2002 | Schlessinger, David; Herrera, Luisa; Crisponi, Laura; Mumm, Steven; Percesepe, Antonio; Pellegrini, Massimo; Pilia, Giuseppe; Forabosco, Antonino | |
Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis [2] (multiple letters) | 1-gen-2002 | Andermann, Anne; Wong, Nora; Gordon, Philip; Macnamara, Elizabeth; Chong, George; Foulkes, William; Percesepe, Antonio; Ponz de Leon, Maurizio; Peltomäki, Päivi | |
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis | 1-gen-2002 | Falcinelli, C; Iughetti, L; Percesepe, Antonio; Calabrese, G; Chiarelli, F; Cisternino, M; DE SANCTIS, L; Pucarelli, I; Radetti, G; Wasniewska, M; Weber, G; Stuppia, L; Bernasconi, Sergio; Forabosco, A. | |
Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases | 1-gen-2002 | Mazza, V.; Falcinelli, C.; Percesepe, A.; Paganelli, S.; Volpe, A.; Forabosco, Andrea | |
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness | 1-gen-2004 | Coviello, Domenico A.; Brambati, Bruno; Tului, Lucia; Percesepe, Antonio; Sironi, Francesca; Sahai, Achal; Bertorelli, Roberto; Forabosco, Antonino | |
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination | 1-gen-2005 | Percesepe, Antonio; Ferrari, Maurizio; Coviello, Domenico; Zanussi, Monica; Castagni, Marina; Neri, Isabella; Travi, Maurizio; Forabosco, Antonino; Tedeschi, Silvana | |
Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe | 1-gen-2006 | Stanghellini, I.; Bertorelli, R.; Capone, L.; Mazza, V.; Neri, C.; Percesepe, A.; Forabosco, A. | |
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype [1] | 1-gen-2007 | Percesepe, Antonio; Lugli, Licia; Pierluigi, Mauro; Cavani, Simona; Malacarne, Michela; Roversi, Maria Federica; Ferrari, Fabrizio; Forabosco, Antonino | |
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases | 1-gen-2007 | Mazza, Vincenzo; Pati, Mariangela; Bertucci, Emma; Re, Claudia; Ranzi, Andrea; Percesepe, Antonio; Forabosco, Antonino; Volpe, Annibale | |
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia [3] | 1-gen-2007 | Bertorelli, R.; Capone, L.; Ambrosetti, F.; Garavelli, L.; Varriale, L.; Mazza, V.; Stanghellini, I.; Percesepe, Antonio; Forabosco, A. | |
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele | 1-gen-2008 | Percesepe, Antonio; Bertucci, Emma; Ferrari, Paola; Lugli, Licia; Ferrari, Fabrizio; Mazza, Vincenzo; Forabosco, Antonino | |
Incidence of non-age-dependent chromosomal abnormalities: A population-based study on 88965 amniocenteses | 1-gen-2009 | Forabosco, Antonino; Percesepe, Antonio; Santucci, Sandra | |
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues | 1-gen-2010 | Mazza, Vincenzo; Latella, Silvia; Fenu, Valentina; Ferrari, Paola; Bonilauri, Carlotta; Santucci, Sandra; Percesepe, Antonio | |
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family | 1-gen-2011 | Mazza, Vincenzo; Latella, Silvia; Pati, Mariangela; Re, Claudia; Bertucci, Emma; Cani, Carlotta; Percesepe, Antonio | |
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay | 1-gen-2011 | Lugli, Licia; Malacarne, Michela; Cavani, Simona; Pierluigi, Mauro; Ferrari, Fabrizio; Percesepe, Antonio | |
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations | 1-gen-2011 | Grossi, Serena; Regis, Stefano; Biancheri, Roberta; Mort, Matthew; Lualdi, Susanna; Bertini, Enrico; Uziel, Graziella; Boespflug-Tanguy, Odile; Simonati, Alessandro; Corsolini, Fabio; Demir, Ercan; Marchiani, Valentina; Percesepe, Antonio; Stanzial, Franco; Rossi, Andrea; Vaurs-Barrière, Catherine; Cooper, David N; Filocamo, Mirella |
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