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Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
Baldan, Federica, Demori, Eliana, Gnan, Chiara, Passon, Nadia, Damante, Giuseppe, Mio, Catia, Allegri, Lorenzo, Morgan, Anna, Girotto, Giorgia, De Paoli, Federica, Limongelli, Ivan, Zucca, Susanna, Faletra, Flavio
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States
Flood, Veronica H., Christopherson, Pamela A., Gill, Joan Cox, Friedman, Kenneth D., Haberichter, Sandra L., Bellissimo, Daniel B., Udani, Rupa A., Dasgupta, Mahua, Hoffmann, Raymond G., Ragni, Margaret V., Shapiro, Amy D., Lusher, Jeanne M., Lentz, Steven R., Abshire, Thomas C., Leissinger, Cindy, Hoots, W. Keith, Manco-Johnson, Marilyn J., Gruppo, Ralph A., Boggio, Lisa N., Montgomery, Kate T., Goodeve, Anne C., James, Paula D., Lillicrap, David, Peake, Ian R., Montgomery, Robert R.
Published in Blood (19.05.2016)
Published in Blood (19.05.2016)
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CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
Annunziata, Silvia, Bulgheroni, Sara, D’Arrigo, Stefano, Esposito, Silvia, Taddei, Matilde, Saletti, Veronica, Alfei, Enrico, Sciacca, Francesca Luisa, Rizzo, Ambra, Pantaleoni, Chiara, Riva, Daria
Published in Journal of autism and developmental disorders (01.02.2023)
Published in Journal of autism and developmental disorders (01.02.2023)
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Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization
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)
Published in Archives of neurology (Chicago) (01.03.2012)
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High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability
Taylor, Matthew R.G., Jirikowic, Jean, Wells, Cara, Springer, Michelle, McGavran, Loris, Lunt, Brenda, Swisshelm, Karen
Published in Genetics in medicine (01.01.2010)
Published in Genetics in medicine (01.01.2010)
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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Goto, Masahide, Kurokawa, Yoshie, Anzai, Tatsuya, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yamagata, Takanori, Saitoh, Shinji
Published in Journal of autism and developmental disorders (01.12.2021)
Published in Journal of autism and developmental disorders (01.12.2021)
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Euploidy rates in donor egg cycles significantly differ between fertility centers
Munné, S., Alikani, M., Ribustello, L., Colls, P., Martínez-Ortiz, Pedro A., McCulloh, D.H.
Published in Human reproduction (Oxford) (01.04.2017)
Published in Human reproduction (Oxford) (01.04.2017)
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Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome
Ohashi, Kei, Togawa, Takao, Sugiura, Tokio, Ito, Koichi, Endo, Takeshi, Aoyama, Kohei, Negishi, Yutaka, Kudo, Toyoichiro, Ito, Reiko, Saitoh, Shinji
Published in Acta Paediatrica (01.11.2017)
Published in Acta Paediatrica (01.11.2017)
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Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos
Huang, Jin, Yan, Liying, Fan, Wei, Zhao, Nan, Zhang, Yan, Tang, Fuchou, Xie, X. Sunney, Qiao, Jie
Published in Fertility and sterility (01.12.2014)
Published in Fertility and sterility (01.12.2014)
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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Published in PLoS genetics (01.07.2011)
Published in PLoS genetics (01.07.2011)
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Genome-scale analysis of replication timing: from bench to bioinformatics
Ryba, Tyrone, Battaglia, Dana, Pope, Benjamin D, Hiratani, Ichiro, Gilbert, David M
Published in Nature protocols (01.06.2011)
Published in Nature protocols (01.06.2011)
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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization
Yokoyama-Rebollar, Emiy, Ruiz-Herrera, Adriana, Lieberman-Hernández, Esther, Del Castillo-Ruiz, Victoria, Sánchez-Sandoval, Silvia, Ávila-Flores, Silvia M, Castrillo, José Luis
Published in Molecular cytogenetics (09.04.2015)
Published in Molecular cytogenetics (09.04.2015)
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Molecular cytogenetic analysis of head and neck squamous cell carcinoma: By comparative genomic hybridization, spectral karyotyping, and expression array analysis
Squire, Jeremy A., Bayani, Jane, Luk, Catherine, Unwin, Lianne, Tokunaga, Jason, MacMillan, Christina, Irish, Jonathan, Brown, Dale, Gullane, Patrick, Kamel-Reid, Suzanne
Published in Head & neck (01.09.2002)
Published in Head & neck (01.09.2002)
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Frequency of euploid miscarriage is increased in obese women with recurrent early pregnancy loss
Boots, Christina E., Bernardi, Lia A., Stephenson, Mary D.
Published in Fertility and sterility (01.08.2014)
Published in Fertility and sterility (01.08.2014)
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Comparative Cytogenetics and Neo-Y Formation in Small-Sized Fish Species of the Genus Pyrrhulina (Characiformes, Lebiasinidae)
de Moraes, Renata Luiza Rosa, Sember, Alexandr, Bertollo, Luiz Antônio Carlos, de Oliveira, Ezequiel Aguiar, Ráb, Petr, Hatanaka, Terumi, Marinho, Manoela Maria Ferreira, Liehr, Thomas, Al-Rikabi, Ahmed B. H., Feldberg, Eliana, Viana, Patrik F., Cioffi, Marcelo de Bello
Published in Frontiers in genetics (02.08.2019)
Published in Frontiers in genetics (02.08.2019)
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Strong Association of De Novo Copy Number Mutations with Autism
Sebat, Jonathan, Lakshmi, B, Malhotra, Dheeraj, Troge, Jennifer, Lese-Martin, Christa, Walsh, Tom, Yamrom, Boris, Yoon, Seungtai, Krasnitz, Alex, Kendall, Jude, Leotta, Anthony, Pai, Deepa, Zhang, Ray, Lee, Yoon-Ha, Hicks, James, Spence, Sarah J, Lee, Annette T, Puura, Kaija, Lehtimäki, Terho, Ledbetter, David, Gregersen, Peter K, Bregman, Joel, Sutcliffe, James S, Jobanputra, Vaidehi, Chung, Wendy, Warburton, Dorothy, King, Mary-Claire, Skuse, David, Geschwind, Daniel H, Gilliam, T. Conrad, Ye, Kenny, Wigler, Michael
Published in Science (American Association for the Advancement of Science) (20.04.2007)
Published in Science (American Association for the Advancement of Science) (20.04.2007)
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