Zobrazeno 1 - 10
of 867
pro vyhledávání: '"16P11.2"'
Autor:
Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, Ashwaq Mohammed Alqarni, Huda Hussein Elwasila Eltayeb, Noura Mostafa Mohamed Mostafa, Maha Mohammed Abdulrahim, Hadeel Ibrahim Bin Zaid, Latifah Mansour Alanzi, Sarah Abdullah Ababtain, Khawlah Aldulaijan, Sheka Yagub Aloyouni, Moneeb Abdullah Kassem Othman, Mohammad Abdullah Alkheilewi, Adel Mohammed Binduraihem, Hadeel Abdollah Alrukban, Hiba Yousif Ahmed, Faten Abdullah AlRadini, Hadil Mohammad Alahdal, Aziza Mufareh Mushiba, Omaima Abdulazeem Alzaher
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)
Abstract Background Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation suggestive of chromosomal syndromes. Chromosome 16p11.2 deletion syndro
Externí odkaz:
https://doaj.org/article/c35507dced82439484a71711a4834fd0
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-14 (2024)
Abstract Background Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities. However, the prenatal phenotypes associated with 16p11.2 copy number
Externí odkaz:
https://doaj.org/article/f6655cca1ab0492cbb8308c495a98900
Autor:
Charlotte E. Butter, Caitlin L. Goldie, Jessica H. Hall, Kathy Leadbitter, Emma M.M. Burkitt, Marianne B.M. van den Bree, Jonathan M. Green
Publikováno v:
BMC Psychology, Vol 12, Iss 1, Pp 1-11 (2024)
Abstract Background 16p11.2 proximal deletion and duplication syndromes (Break points 4–5) (593KB, Chr16; 29.6-30.2mb - HG38) are observed to have highly varied phenotypes, with a known propensity for lifelong psychiatric problems. This study aimed
Externí odkaz:
https://doaj.org/article/d05bc6fd32984de1bbdf8b04fb6592e2
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
Neurodevelopmental disorders (NDDs) include a broad spectrum of pathological conditions that affect >4% of children worldwide, share common features and present a variegated genetic origin. They include clinically defined diseases, such as autism spe
Externí odkaz:
https://doaj.org/article/8629bf3dd9634fffb4c3993a57b0fdc2
Akademický článek
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Autor:
Zhang Fu, Xiuyan Yang, Youheng Jiang, Xinliang Mao, Hualin Liu, Yanming Yang, Jia Chen, Zhumei Chen, Huiliang Li, Xue-Song Zhang, Xinjun Mao, Ningning Li, Dilong Wang, Jian Jiang
Publikováno v:
Frontiers in Microbiology, Vol 15 (2024)
The gut-brain axis is evident in modulating neuropsychiatric diseases including autism spectrum disorder (ASD). Chromosomal 16p11.2 microduplication 16p11.2dp/+ is among the most prevalent genetic copy number variations (CNV) linked with ASD. However
Externí odkaz:
https://doaj.org/article/b2e6fec7a8744bf083191b9adddd3629
Autor:
Anna Rusu, Claire Chevalier, Fabrice de Chaumont, Valérie Nalesso, Véronique Brault, Yann Hérault, Elodie Ey
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 17 (2023)
BackgroundAutism spectrum disorders affect more than 1% of the population, impairing social communication and increasing stereotyped behaviours. A micro-deletion of the 16p11.2 BP4-BP5 chromosomic region has been identified in 1% of patients also dis
Externí odkaz:
https://doaj.org/article/ab65c1a3e28648a1a08cc34a5d8bac8b
Akademický článek
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Akademický článek
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Autor:
Francesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Roberto Sacco, Ignazio Stefano Piras, Laura Turriziani, Arianna Ricciardello, Maria Luisa Scattoni, Antonio M. Persico
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract Background Autism spectrum disorder (ASD) is characterized by high heritability estimates and recurrence rates; its genetic underpinnings are very heterogeneous and include variable combinations of common and rare variants. Array‐comparati
Externí odkaz:
https://doaj.org/article/0179a71ad8f24f04b221a0f378854198