Zobrazeno 1 - 10
of 29
pro vyhledávání: '"15q13.3 deletion"'
Autor:
Kozlova, Alena 1, Zhang, Siwei 1, 2, Kotlar, Alex V. 3, 4, Jamison, Brendan 1, Zhang, Hanwen 1, Shi, Serena 5, Forrest, Marc P. 6, 7, McDaid, John 8, Cutler, David J. 3, Epstein, Michael P. 3, Zwick, Michael E. 3, 9, Pang, Zhiping P. 10, Sanders, Alan R. 1, 2, Warren, Stephen T. 3, 12, Gejman, Pablo V. 1, 2, Mulle, Jennifer G. 3, 11, Duan, Jubao 1, 2, ∗
Publikováno v:
In The American Journal of Human Genetics 4 August 2022 109(8):1500-1519
Autor:
Ziats, Mark N. 1, Goin-Kochel, Robin P. 2, 3, Berry, Leandra N. 2, 3, Ali, May 4, 5, Ge, Jun 4, Guffey, Danielle 6, Rosenfeld, Jill A. 4, Bader, Patricia 7, Gambello, Michael J. 8, Wolf, Varina 9, Penney, Lynette S. 10, Miller, Ryan 11, Lebel, Robert Roger 11, Kane, Jeffrey 12, Bachman, Kristine 13, Troxell, Robin 14, Clark, Gary 9, Minard, Charles G. 6, Stankiewicz, Pawel 4, Beaudet, Arthur 4, Schaaf, Christian P. 4, 5
Publikováno v:
In Genetics in Medicine November 2016 18(11):1111-1118
Publikováno v:
In Progress in Neuropsychopharmacology & Biological Psychiatry 4 January 2016 64:109-117
Autor:
Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia
Publikováno v:
Medicina, Vol 55, Iss 7, p 345 (2019)
Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including
Externí odkaz:
https://doaj.org/article/b36900bdc03f47079cb26bc7924ce4f0
Publikováno v:
Cureus
A microdeletion in the 15q13.3 locus is an exceedingly rare condition affecting the CHRNA7 gene. There have been 11 pediatric cases of this mutation reported worldwide. Clinical characteristics of the 15q13.3 microdeletion are rapid-onset obesity, hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869c77e6275087b612fb81de03919745
http://europepmc.org/articles/PMC8054939
http://europepmc.org/articles/PMC8054939
Autor:
Francesca Zottarelli, Andrea Zonta, A. Guala, Eleonora Di Gregorio, Enrico Grosso, Barbara Pasini, Laura Cristina Gironi, Paola Savoia, Alfredo Brusco, Valeria Giorgia Naretto, Enrico Colombo
Publikováno v:
Medicina
Medicina, Vol 55, Iss 7, p 345 (2019)
Medicina, Vol 55, Iss 7, p 345 (2019)
Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cbf0714dfe88157863cbf504d85b1f0
http://hdl.handle.net/2318/1705672
http://hdl.handle.net/2318/1705672
Akademický článek
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Autor:
Popovici, Cornel a, b, *, Busa, Tiffany c, d, Missirian, Chantal a, c, Milh, Mathieu b, e, Moncla, Anne a, c, d, Philip, Nicole b, c, d
Publikováno v:
In European Journal of Medical Genetics May 2013 56(5):274-277
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2013, 56 (5), pp.274-7. ⟨10.1016/j.ejmg.2013.02.005⟩
European Journal of Medical Genetics, 2013, 56 (5), pp.274-7. ⟨10.1016/j.ejmg.2013.02.005⟩
European Journal of Medical Genetics, Elsevier, 2013, 56 (5), pp.274-7. ⟨10.1016/j.ejmg.2013.02.005⟩
European Journal of Medical Genetics, 2013, 56 (5), pp.274-7. ⟨10.1016/j.ejmg.2013.02.005⟩
International audience; Deletions in 15q13.3 belong to the most frequently identified recurrent CNVs, and lead to mental retardation, seizures and minor dysmorphism. We report on two monozygotic twin boys with a mosaic 1.5 Mb deletion in 15q13.3, inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f2ec5a3f596d98b45c5520fa7bce883
https://www.hal.inserm.fr/inserm-00799062/file/Mosaic_15q13_3_deletion_including_CHRNA7_gene_in_monozygotic_twins_-_final_version.pdf
https://www.hal.inserm.fr/inserm-00799062/file/Mosaic_15q13_3_deletion_including_CHRNA7_gene_in_monozygotic_twins_-_final_version.pdf
Akademický článek
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