Search Results - "Cavaliere, Maria Luigia" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

by Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere, Maria Luigia, Prontera, Paolo, Stangoni, Gabriela, Ferrero, Giovanni Battista, Biamino, Elisa, Fischetto, Rita, Piccione, Maria, Gasparini, Paolo, Salviati, Leonardo, Selicorni, Angelo, Finelli, Palma, Larizza, Lidia, Gervasini, Cristina
Published in Human genetics (01.06.2015)

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A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

by De Crescenzo, Agostina, Citro, Valentina, Freschi, Andrea, Sparago, Angela, Palumbo, Orazio, Cubellis, Maria Vittoria, Carella, Massimo, Castelluccio, Pia, Cavaliere, Maria Luigia, Cerrato, Flavia, Riccio, Andrea
Published in Journal of human genetics (01.06.2015)

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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

by Ciavarella, Michele, Coco, Michelina, Baorda, Filomena, Stanziale, Pietro, Chetta, Massimiliano, Bisceglia, Luigi, Palumbo, Pietro, Bengala, Mario, Raiteri, Paola, Silengo, Margherita, Caldarini, Camilla, Facchini, Renato, Lala, Roberto, Cavaliere, Maria Luigia, De Brasi, Davide, Pasini, Barbara, Zelante, Leopoldo, Guarnieri, Vito, D'Agruma, Leonardo
Published in Gene (25.02.2013)

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NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series

by Gurrieri, Fiorella, Cavaliere, Maria Luigia, Wischmeijer, Anita, Mammì, Corrado, Neri, Giovanni, Pisanti, Maria Antonietta, Rodella, Giulia, Laganà, Carmelo, Priolo, Manuela
Published in European journal of medical genetics (01.09.2015)

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Characterization of a Novel Alu‐Alu Recombination‐Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

Characterization of a Novel Alu‐Alu Recombination‐Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

by Pangrazio, Alessandra, Caldana, Maria Elena, Sobacchi, Cristina, Panaroni, Cristina, Susani, Lucia, Mihci, Ercan, Cavaliere, Maria Luigia, Giliani, Silvia, Villa, Anna, Frattini, Annalisa
Published in Journal of bone and mineral research (01.01.2009)

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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

by Striano, Pasquale, Malacarne, Michela, Cavani, Simona, Pierluigi, Mauro, Rinaldi, Rosanna, Cavaliere, Maria Luigia, Rinaldi, Maria Michela, De Bernardo, Carmelilia, Coppola, Antonietta, Pintaudi, Maria, Gaggero, Roberto, Grammatico, Paola, Striano, Salvatore, Dallapiccola, Bruno, Zara, Federico, Faravelli, Francesca
Published in American journal of medical genetics. Part A (15.09.2006)

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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

by Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
Published in Human mutation (01.07.2014)

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Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

by Parrini, Elena, Mei, Davide, Pisanti, Maria Antonietta, Catarzi, Serena, Pucatti, Daniela, Bianchini, Claudia, Mascalchi, Mario, Bertini, Enrico, Morrone, Amelia, Cavaliere, Maria Luigia, Guerrini, Renzo
Published in Journal of medical genetics (01.06.2015)

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Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth

by Tarsitano, Marina, Ceglia, Carlo, Novelli, Antonio, Capalbo, Anna, Lombardo, Barbara, Pastore, Lucio, Fioretti, Gennaro, Vicari, Laura, Pisanti, Maria Antonietta, Friso, Patrizia, Cavaliere, Maria Luigia
Published in Gene (15.02.2014)

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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

by Thevenon, Julien, Callier, Patrick, Poquet, Hélène, Bache, Iben, Menten, Bjorn, Malan, Valérie, Cavaliere, Maria Luigia, Girod, Jean-Paul, Thauvin-Robinet, Christel, El Chehadeh, Salima, Pinoit, Jean-Michel, Huet, Frederic, Verges, Bruno, Petit, Jean-Michel, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Mugneret, Francine, Masurel-Paulet, Alice, Novelli, Antonio, Tümer, Zeynep, Loeys, Bart, Lyonnet, Stanislas, Faivre, Laurence
Published in Journal of medical genetics (01.01.2014)

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Trisomy 7 and deletion of the 9p21 locus as novel acquired abnormalities in a case of pediatric biphenotypic acute leukemia

Trisomy 7 and deletion of the 9p21 locus as novel acquired abnormalities in a case of pediatric biphenotypic acute leukemia

by Tarsitano, Marina, Leszl, Anna, Parasole, Rosanna, Cavaliere, Maria Luigia, Menna, Giuseppe, Di Meglio, Annamaria, Buldini, Barbara, Poggi, Vincenzo, Vicari, Laura
Published in Journal of pediatric hematology/oncology (01.04.2012)

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Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

by Genesio, Rita, Ronga, Valentina, Castelluccio, Pia, Fioretti, Gennaro, Mormile, Angela, Leone, Graziella, Conti, Anna, Cavaliere, Maria Luigia, Nitsch, Lucio
Published in Molecular cytogenetics (01.08.2013)

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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of K abuki Syndrome Patients

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of K abuki Syndrome Patients

by Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
Published in Human mutation (01.07.2014)

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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

by ORRICO, Alfredo, GALLI, Lucia, CAVALIERE, Maria Luigia, GARAVELLI, Livia, FRYNS, Jean-Pierre, CRUSHELL, Ellen, RINALDI, Maria Michela, MEDEIRA, Ana, SORRENTINO, Vincenzo
Published in European journal of human genetics : EJHG (01.01.2004)

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Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

by Striano, Pasquale, Coppola, Antonietta, Paravidino, Roberta, Malacarne, Michela, Gimelli, Stefania, Robbiano, Angela, Traverso, Monica, Pezzella, Marianna, Belcastro, Vincenzo, Bianchi, Amedeo, Elia, Maurizio, Falace, Antonio, Gazzerro, Elisabetta, Ferlazzo, Edoardo, Freri, Elena, Galasso, Roberta, Gobbi, Giuseppe, Molinatto, Cristina, Cavani, Simona, Zuffardi, Orsetta, Striano, Salvatore, Ferrero, Giovanni Battista, Silengo, Margherita, Cavaliere, Maria Luigia, Benelli, Matteo, Magi, Alberto, Piccione, Maria, Dagna Bricarelli, Franca, Coviello, Domenico A, Fichera, Marco, Minetti, Carlo, Zara, Federico
Published in Archives of neurology (Chicago) (01.03.2012)

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A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)

by Orrico, Alfredo, Galli, Lucia, Falciani, Michela, Bracci, Martina, Cavaliere, Maria Luigia, Rinaldi, Maria Michela, Musacchio, Andrea, Sorrentino, Vincenzo
Published in FEBS letters (04.08.2000)

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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

by de Crecchio, Giuseppe, Simonelli, Francesca, Nunziata, Giuseppe, Mazzeo, Salvatore, Greco, Giovanni Maria, Rinaldi, Ernesto, Ventruto, Valerio, Ciccodicola, Alfredo, Miano, Maria Giuseppina, Testa, Francesco, Curci, Anna, D'Urso, Michele, Rinaldi, Maria Michela, Cavaliere, Maria Luigia, Castelluccio, Pia
Published in Clinical genetics (01.10.1998)

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Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)

Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)

by Ventruto, V, Pisciotta, R, Renda, S, Festa, B, Rinaldi, M M, Stabile, M, Cavaliere, M L, Esposito, M
Published in American journal of medical genetics (01.12.1983)

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