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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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Journal Article
Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
Year of Publication 2021
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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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Journal Article
A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family
Chacon-Camacho, Oscar Francisco, Flores-Lagunes, Luis Leonardo, Small, Kent W, Udar, Nitin, Udar, Uma, Diaz, Amber, Arce-González, Rocío, Molina-Garay, Carolina, Martínez-Aguilar, Alan, Montes-Almanza, Luis, Garcia-Martinez, Froylan, Gudiño, Adriana, Matsui-Serrano, Rodrigo, Fest-Parra, Scarlett, Alaez-Verson, Carmen, Shaya, Fadi, Zenteno, Juan Carlos
Published in Molecular vision (2024)
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Published in Molecular vision (2024)
Journal Article
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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Journal Article
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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Journal Article
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Costantini, Alice, Skarp, Sini, Kämpe, Anders, Mäkitie, Riikka E., Pettersson, Maria, Männikkö, Minna, Jiao, Hong, Taylan, Fulya, Lindstrand, Anna, Mäkitie, Outi
Published in Frontiers in endocrinology (Lausanne) (10.07.2018)
Published in Frontiers in endocrinology (Lausanne) (10.07.2018)
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Journal Article
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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Journal Article
Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type
Sadler, Brooke, Christopherson, Pamela A., Perry, Crystal L., Bellissimo, Daniel B., Haberichter, Sandra L., Haller, Gabe, Antunes, Lilian, Flood, Veronica H., Di Paola, Jorge, Montgomery, Robert R.
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
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Journal Article
Identification and molecular characterization of two novel chromosomal deletions associated with autism
Chien, W-H, Gau, SS-F, Wu, Y-Y, Huang, Y-S, Fang, J-S, Chen, Y-J, Soong, W-T, Chiu, Y-N, Chen, C-H
Published in Clinical genetics (01.11.2010)
Published in Clinical genetics (01.11.2010)
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Journal Article
Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32
Gajecka, Marzena, Radhakrishna, Uppala, Winters, Daniel, Nath, Swapan K, Rydzanicz, Malgorzata, Ratnamala, Uppala, Ewing, Kimberly, Molinari, Andrea, Pitarque, Jose A, Lee, Kwanghyuk, Leal, Suzanne M, Bejjani, Bassem A
Published in Investigative ophthalmology & visual science (01.04.2009)
Published in Investigative ophthalmology & visual science (01.04.2009)
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Journal Article
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Yu, Wei, Ballif, Blake C., Kashork, Catherine D., Heilstedt, Heidi A., Howard, Leslie A., Cai, Wei-Wen, White, Lisa D., Liu, Wenbin, Beaudet, Arthur L., Bejjani, Bassem A., Shaw, Chad A., Shaffer, Lisa G.
Published in Human molecular genetics (01.09.2003)
Published in Human molecular genetics (01.09.2003)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Cytogenetics of Domestic Animals: Clinical, Molecular and Evolutionary Aspects
Year of Publication 2023
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