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A CGH array procedure to detect PAX6 gene structural defects
Franzoni, Alessandra, Russo, Patrizia Dello, Baldan, Federica, D'Elia, Angela Valentina, Puppin, Cinzia, Penco, Silvana, Damante, Giuseppe
Published in Molecular and cellular probes (01.04.2017)
Published in Molecular and cellular probes (01.04.2017)
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Two novel genomic rearrangements identified in suicide subjects using a-CGH array
Lombardo, Barbara, Zarrilli, Federica, Ceglia, Carlo, Vitale, Andrea, Keller, Simona, Sarchiapone, Marco, Carli, Vladimir, Stuppia, Liborio, Chiariotti, Lorenzo, Castaldo, Giuseppe, Pastore, Lucio
Published in Clinical chemistry and laboratory medicine (01.09.2015)
Published in Clinical chemistry and laboratory medicine (01.09.2015)
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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
Bovolenta, Matteo, Neri, Marcella, Martoni, Elena, Urciuolo, Anna, Sabatelli, Patrizia, Fabris, Marina, Grumati, Paolo, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Bonaldo, Paolo, Ferlini, Alessandra, Gualandi, Francesca
Published in BMC medical genetics (19.03.2010)
Published in BMC medical genetics (19.03.2010)
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi, Sabina, Vasco, Gessica, Tartaglia, Marco, Bertini, Enrico, Nicita, Francesco
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome
Žilina, Olga, Koltšina, Marina, Raid, Raivo, Kurg, Ants, Tõnisson, Neeme, Salumets, Andres
Published in BMC genomics (16.09.2015)
Published in BMC genomics (16.09.2015)
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Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis
Digilio, M. Cristina, Bernardini, Laura, Consoli, Federica, Lepri, Francesca R., Giuffrida, M. Grazia, Baban, Anwar, Surace, Cecilia, Ferese, Rosangela, Angioni, Adriano, Novelli, Antonio, Marino, Bruno, De Luca, Alessandro, Dallapiccola, Bruno
Published in European journal of medical genetics (01.03.2013)
Published in European journal of medical genetics (01.03.2013)
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Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A
Lannoy, N., Bandelier, C., Grisart, B., Reginster, M., Ronge-Collard, E., Vikkula, M., Hermans, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2015)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2015)
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Mélanome en thèques
Jegou, M.-H., Huet, P., Penchet, I.
Published in Annales de dermatologie et de vénéréologie (01.01.2017)
Published in Annales de dermatologie et de vénéréologie (01.01.2017)
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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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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., Hakonarson, Hakon
Published in Nature communications (14.01.2020)
Published in Nature communications (14.01.2020)
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Integration of Global Spectral Karyotyping, CGH Arrays, and Expression Arrays Reveals Important Genes in the Pathogenesis of Glioblastoma Multiforme
Leone, Paola E., González, M. Belén, Elosua, Carolina, Gómez-Moreta, Juan A., Lumbreras, Eva, Robledo, Cristina, Santos-Briz, Angel, Valero, José Maria, de la Guardia, Rafael Díaz, Gutiérrez, Norma C., Hernández, Jesús M., García, Juan L.
Published in Annals of surgical oncology (01.07.2012)
Published in Annals of surgical oncology (01.07.2012)
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Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects
Resta, Nicoletta, Giorda, Roberto, Bagnulo, Rosanna, Beri, Silvana, Mina, Erika Della, Stella, Alessandro, Piglionica, Marilidia, Susca, Francesco Claudio, Guanti, Ginevra, Zuffardi, Orsetta, Ciccone, Roberto
Published in Human genetics (01.10.2010)
Published in Human genetics (01.10.2010)
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Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure
Franzoni, Alessandra, Baldan, Federica, Passon, Nadia, Mio, Catia, Driul, Daniela, Cogo, Paola, Fogolari, Federico, D’Aurizio, Federica, Damante, Giuseppe
Published in Endocrine (01.02.2023)
Published in Endocrine (01.02.2023)
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Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment
Wannes, Selmen, El Ahmer, Ikram, Rjiba, Khouloud, Jemmali, Nessrine, Abdallah, Hamza Haj, Haj, Rania Bel, Achour, Asma, Bouzidi, Hassan, Saad, Ali, Mougou, Soumaya, Mahjoub, Bahri
Published in Growth hormone & IGF research (01.08.2023)
Published in Growth hormone & IGF research (01.08.2023)
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Expression analysis of genes located within the common deleted region of del(20q) in patients with myelodysplastic syndromes
Shiseki, Masayuki, Ishii, Mayuko, Okada, Michiko, Ohwashi, Mari, Wang, Yan-Hua, Osanai, Satoko, Yoshinaga, Kentaro, Mori, Naoki, Motoji, Toshiko, Tanaka, Junji
Published in Leukemia research (01.09.2019)
Published in Leukemia research (01.09.2019)
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Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype
Arrigoni, Filippo, Romaniello, Romina, Peruzzo, Denis, Righini, Andrea, Parazzini, Cecilia, Colombo, Paola, Bassi, Maria Teresa, Triulzi, Fabio, Borgatti, Renato
Published in European radiology (01.08.2016)
Published in European radiology (01.08.2016)
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Characterization of whole genome amplified (WGA) DNA for use in genotyping assay development
Han, Tao, Chang, Ching-Wei, Kwekel, Joshua C, Chen, Ying, Ge, Yun, Martinez-Murillo, Francisco, Roscoe, Donna, Težak, Živana, Philip, Reena, Bijwaard, Karen, Fuscoe, James C
Published in BMC genomics (01.06.2012)
Published in BMC genomics (01.06.2012)
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Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
Marsudi, Bagas A., Kartapradja, Hannie, Paramayuda, Chrysantine, Batubara, Jose R. L., Harahap, Alida R., Marzuki, Nanis S.
Published in Molecular cytogenetics (08.05.2018)
Published in Molecular cytogenetics (08.05.2018)
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New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients
Piga, Daniela, Magri, Francesca, Ronchi, Dario, Corti, Stefania, Cassandrini, Denise, Mercuri, Eugenio, Tasca, Giorgio, Bertini, Enrico, Fattori, Fabiana, Toscano, Antonio, Messina, Sonia, Moroni, Isabella, Mora, Marina, Moggio, Maurizio, Colombo, Irene, Giugliano, Teresa, Pane, Marika, Fiorillo, Chiara, D’Amico, Adele, Bruno, Claudio, Nigro, Vincenzo, Bresolin, Nereo, Comi, Giacomo Pietro
Published in Journal of molecular neuroscience (01.07.2016)
Published in Journal of molecular neuroscience (01.07.2016)
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Phenomic determinants of genomic variation in autism spectrum disorders
Qiao, Y, Riendeau, N, Koochek, M, Liu, X, Harvard, Chansonette, Hildebrand, M J, Holden, J J A, Rajcan-Separovic, E, Lewis, M E S
Published in Journal of medical genetics (01.10.2009)
Published in Journal of medical genetics (01.10.2009)
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