A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

Por Palumbo Orazio, Palumbo Pietro, Palladino Teresa, Stallone Raffaella, Zelante Leopoldo, Carella Massimo
Publicado em 2012-01-01

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

Por Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Zelante, Leopoldo, Carella, Massimo
Publicado em 2012

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes

Por Palumbo, Orazio, Fischetto, Rita, Palumbo, Pietro, Nicastro, Francesco, Papadia, Francesco, Zelante, Leopoldo, Carella, Massimo
Publicado no Mol Cytogenet (2015)

Clinical and molecular characterization of a de novo 19p13.3 microdeletion

Por Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Publicado no Mol Cytogenet (2016)

Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication

Por Palumbo, Orazio, Palumbo, Pietro, Ferri, Emanuela, Riviello, Francesco Nicola, Cloroformio, Lea, Carella, Massimo, Di Giacomo, Marilena Carmela
Publicado no Mol Cytogenet (2015)

PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

Por Palumbo, Orazio, Palumbo, Pietro, Leone, Maria P., Stallone, Raffaella, Palladino, Teresa, Vendemiale, Marcella, Palladino, Stefano, Papadia, Francesco, Carella, Massimo, Fischetto, Rira
Publicado no Mol Syndromol (2016)

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

Por Mozzillo, Enza, Delvecchio, Maurizio, Carella, Massimo, Grandone, Elvira, Palumbo, Pietro, Salina, Alessandro, Aloi, Concetta, Buono, Pietro, Izzo, Antonella, D’Annunzio, Giuseppe, Vecchione, Gennaro, Orrico, Ada, Genesio, Rita, Simonelli, Francesca, Franzese, Adriana
Publicado em 2014

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Por Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
Publicado no Eur J Hum Genet (2015)

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Por El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée
Publicado no Eur J Hum Genet (2015)