Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease

Yazar: Lazarczyk, Maciej J., Haller, Sven, Gimelli, Stefania, Bena, Frédérique, Giannakopoulos, Panteleimon
Yayımlandı Alzheimer Dis Assoc Disord (2016)

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

Yazar: Lantieri, Francesca, Malacarne, Michela, Gimelli, Stefania, Santamaria, Giuseppe, Coviello, Domenico, Ceccherini, Isabella
Yayımlandı Int J Mol Sci (2017)

Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon

Yazar: Tekendo-Ngongang, Cedrik, Dahoun, Sophie, Nguefack, Seraphin, Gimelli, Stefania, Sloan-Béna, Frédérique, Wonkam, Ambroise
Yayımlandı Mol Syndromol (2014)

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

Yazar: Capra, Valeria, Mirabelli-Badenier, Marisol, Stagnaro, Michela, Rossi, Andrea, Tassano, Elisa, Gimelli, Stefania, Gimelli, Giorgio
Baskı/Yayın Bilgisi 2012

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

Yazar: Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Lerone, Margherita, Vaccari, Carlotta, Puliti, Aldamaria, Gimelli, Giorgio
Yayımlandı Mol Cytogenet (2015)

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

Yazar: Occella, Corrado, Bleidl, Dario, Nozza, Paolo, Mascelli, Samantha, Raso, Alessandro, Gimelli, Giorgio, Gimelli, Stefania, Elisa Tassano
Baskı/Yayın Bilgisi 2013

Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential

Yazar: Martinez, Yannick, Béna, Frédérique, Gimelli, Stefania, Tirefort, Diderik, Dubois-Dauphin, Michel, Krause, Karl-Heinz, Preynat-Seauve, Olivier
Baskı/Yayın Bilgisi 2012

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

Yazar: Gimelli, Stefania, Leoni, Massimiliano, Di Rocco, Maja, Caridi, Gianluca, Porta, Simona, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Baskı/Yayın Bilgisi 2013

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the <it>CHL1 </it>gene, from a normal father to his two affected children

Yazar: Lerone Margherita, Divizia Maria, Béna Frédérique, Gimelli Stefania, Ronchetto Patrizia, Cuoco Cristina, Mirabelli-Badenier Marisol, Mascaretti Monica, Gimelli Giorgio
Baskı/Yayın Bilgisi 2011-04-01

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Yazar: Cuoco, Cristina, Ronchetto, Patrizia, Gimelli, Stefania, Béna, Frédérique, Divizia, Maria Teresa, Lerone, Margherita, Mirabelli-Badenier, Marisol, Mascaretti, Monica, Gimelli, Giorgio
Baskı/Yayın Bilgisi 2011

Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma

Yazar: Pezzolo, Annalisa, Rossi, Elena, Gimelli, Stefania, Parodi, Federica, Negri, Francesca, Conte, Massimo, Pistorio, Angela, Sementa, Angela, Pistoia, Vito, Zuffardi, Orsetta, Gambini, Claudio
Baskı/Yayın Bilgisi 2009

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

Yazar: Gimelli, Stefania, Beri, Silvana, Drabkin, Harry A, Gambini, Claudio, Gregorio, Andrea, Fiorio, Patrizia, Zuffardi, Orsetta, Gemmill, Robert M, Giorda, Roberto, Gimelli, Giorgio
Baskı/Yayın Bilgisi 2009

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Yazar: Griseri, Paola, Vos, Yvonne, Giorda, Roberto, Gimelli, Stefania, Beri, Silvana, Santamaria, Giuseppe, Mognato, Guendalina, Hofstra, Robert M W, Gimelli, Giorgio, Ceccherini, Isabella
Baskı/Yayın Bilgisi 2009

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

Yazar: Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Yayımlandı Mol Cytogenet (2014)

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring

Yazar: Capra, Valeria, Mascelli, Samantha, Garrè, Maria Luisa, Nozza, Paolo, Vaccari, Carlotta, Bricco, Lara, Sloan-Béna, Frédérique, Gimelli, Stefania, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Baskı/Yayın Bilgisi 2013

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations

Yazar: Tassano, Elisa, Buttgereit, Jens, Bader, Michael, Lerone, Margherita, Divizia, Maria Teresa, Bocciardi, Renata, Napoli, Flavia, Pala, Giovanna, Sloan-Béna, Frédérique, Gimelli, Stefania, Gimelli, Giorgio
Baskı/Yayın Bilgisi 2013

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

Yazar: Vaccari, Carlotta Maria, Romanini, Maria Victoria, Musante, Ilaria, Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Torre, Michele, Morovic, Carmen Gloria, Lerone, Margherita, Ravazzolo, Roberto, Puliti, Aldamaria
Baskı/Yayın Bilgisi 2014

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Yazar: Lantieri, Francesca, Gimelli, Stefania, Viaggi, Chiara, Stathaki, Elissavet, Malacarne, Michela, Santamaria, Giuseppe, Grossi, Alice, Mosconi, Manuela, Sloan-Béna, Frédérique, Prato, Alessio Pini, Coviello, Domenico, Ceccherini, Isabella
Yayımlandı Orphanet J Rare Dis (2019)

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Yazar: Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Sailani, M Reza, Dahoun, Sophie, Santoni, Federico A, Gimelli, Stefania, Guipponi, Michel, Pelte, Marie Françoise, Béna, Frédérique, Antonarakis, Stylianos E, Feki, Anis
Baskı/Yayın Bilgisi 2014

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Yazar: Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno
Baskı/Yayın Bilgisi 2009