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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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Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients
Carreira, Isabel Marques, Ferreira, Susana Isabel, Matoso, Eunice, Pires, Luís Miguel, Ferrão, José, Jardim, Ana, Mascarenhas, Alexandra, Pinto, Marta, Lavoura, Nuno, Pais, Cláudia, Paiva, Patrícia, Simões, Lúcia, Caramelo, Francisco, Ramos, Lina, Venâncio, Margarida, Ramos, Fabiana, Beleza, Ana, Sá, Joaquim, Saraiva, Jorge, de Melo, Joana Barbosa
Published in Molecular cytogenetics (30.12.2015)
Published in Molecular cytogenetics (30.12.2015)
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Appropriateness of array‐CGH in the ADHD clinics: A comparative study
Baccarin, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Costa, Anna, Verdecchia, Magda, Cannizzaro, Chiara, Barbieri, Giusi, Sacco, Roberto, Persico, Antonio M., Lintas, Carla
Published in Genes, brain and behavior (01.07.2020)
Published in Genes, brain and behavior (01.07.2020)
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Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4
Simoncini, Marly, Violi, Miriam, Valetto, Angelo, Bertini, Veronica, Cruz-Sanabria, Francy, Massoni, Leonardo, Dell’Osso, Liliana, Carmassi, Claudia
Published in Frontiers in psychiatry (2023)
Published in Frontiers in psychiatry (2023)
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6q22.1 microdeletion and susceptibility to pediatric epilepsy
Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa G, Wai Cheung, Sau, Stankiewicz, Paweł, Lalani, Seema R
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions
El-Hattab, Ayman W, Fang, Ping, Jin, Weihong, Hughes, Jeffrey R, Gibson, James B, Patel, Gayle S, Grange, Dorothy K, Manwaring, Linda P, Patel, Ankita, Stankiewicz, Pawel, Cheung, Sau Wai
Published in Journal of medical genetics (01.12.2011)
Published in Journal of medical genetics (01.12.2011)
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Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas
Shen, Yiping, Nunes, Fabio, Stemmer-Rachamimov, Anat, James, Marianne, Mohapatra, Gayatry, Plotkin, Scott, Betensky, Rebecca A, Engler, David A, Roy, Jennifer, Ramesh, Vijaya, Gusella, James F
Published in BMC medical genomics (09.07.2009)
Published in BMC medical genomics (09.07.2009)
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Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis
Qiao, Ying, Liu, Xudong, Harvard, Chansonette, Nolin, Sarah L, Brown, W Ted, Koochek, Maryam, Holden, Jeanette JA, Lewis, ME Suzanne, Rajcan-Separovic, Evica
Published in BMC genomics (12.06.2007)
Published in BMC genomics (12.06.2007)
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Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies
Metlapally, Ravikanth, Michaelides, Michel, Bulusu, Anuradha, Li, Yi-Ju, Schwartz, Marianne, Rosenberg, Thomas, Hunt, David M, Moore, Anthony T, Zuchner, Stephan, Rickman, Catherine Bowes, Young, Terri L
Published in Investigative ophthalmology & visual science (01.04.2009)
Published in Investigative ophthalmology & visual science (01.04.2009)
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Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders
Poisson, A, Nicolas, A, Sanlaville, D, Cochat, P, De Leersnyder, H, Rigard, C, Franco, P, des Portes, V, Edery, P, Demily, C
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2015)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2015)
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Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18
Zhang, Yanliang, Dai, Yong, Ren, Jinghui, Wang, Linqian
Published in Annals of Saudi medicine (01.11.2010)
Published in Annals of Saudi medicine (01.11.2010)
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Array CGH Reveals Genomic Aberrations in Human Emphysema
Choi, Jin Soo, Lee, Woon Jeong, Baik, Seung Ho, Yoon, Hyoung Kyu, Lee, Kweon-Haeng, Kim, Yeul Hong, Lim, Young, Wang, Young-Pil
Published in Lung (01.06.2009)
Published in Lung (01.06.2009)
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New Trends In Treacher Collins Syndrome: Bony Reconstruction And Regenerative Therapy
Published in American Journal of Surgical Research and Reviews
(2021)
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Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4
Simoncini M., Violi M., Valetto A., Bertini V., Cruz-Sanabria F., Massoni L., Dell'Osso L., Carmassi C.
Published in Frontiers in Psychiatry (23.11.2023)
Published in Frontiers in Psychiatry (23.11.2023)
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Le syndrome de Smith-Magenis, une association unique de troubles du comportement et du cycle veille/sommeil
Poisson, A., Nicolas, A., Sanlaville, D., Cochat, P., De Leersnyder, H., Rigard, C., Franco, P., des Portes, V., Edery, P., Demily, C.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2015)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2015)
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Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
Osoegawa, K, Vessere, G M, Utami, K H, Mansilla, M A, Johnson, M K, Riley, B M, L’Heureux, J, Pfundt, R, Staaf, J, van der Vliet, W A, Lidral, A C, Schoenmakers, E F P M, Borg, A, Schutte, B C, Lammer, E J, Murray, J C, de Jong, P J
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
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Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
Slavotinek, A, Lee, S S, Davis, R, Shrit, A, Leppig, K A, Rhim, J, Jasnosz, K, Albertson, D, Pinkel, D
Published in Journal of medical genetics (01.09.2005)
Published in Journal of medical genetics (01.09.2005)
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