Zobrazeno 1 - 10
of 3 328
pro vyhledávání: '"Copy-number variants"'
Autor:
Paola Granata, Alessandra Zito, Dario Cocciadiferro, Antonio Novelli, Chiara Pessina, Tommaso Mazza, Matteo Ferri, Paolo Piccinelli, Chiara Luoni, Cristiano Termine, Mauro Fasano, Rosario Casalone
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)
Abstract Background Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study aimed to investigate the ge
Externí odkaz:
https://doaj.org/article/872fb87bc0864d7fb98d4d1990882c75
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Copy number variants (CNVs) are structural variants within the eukaryotic genome that vary among individuals of a species. These variants have been associated with different phenotypic traits, making them a valuable consideration as markers
Externí odkaz:
https://doaj.org/article/a8a3ee0dc0294589b6e5666b603c1be5
Autor:
Cecilia Pynaker, Jacqui McCoy, Jane Halliday, Sharon Lewis, David J. Amor, Susan P. Walker, Lisa Hui, On behalf of the PALM cohort study group
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background There are no established guidelines for the follow up of infants born after a prenatal diagnosis of a genomic copy number variant (CNV), despite their increased risk of developmental issues. The aims of this study were (i) to dete
Externí odkaz:
https://doaj.org/article/f567dae251164b458efae9ad27693720
Autor:
Yassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, Michela Adamo, Khaleeq ur Rehman, Ambrin Fatima, Mariam Shahid, Nida Najmi, Fernanda De Azevedo Correa, Imen Habibi, Alexia Boizot, Nicolas J. Niederländer, Muhammad Ansar, Federico Santoni, James Acierno, Nelly Pitteloud
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background/Objectives This study aims to elucidate the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder resulting in GnRH deficiency, in six families from Pakistan. Methods Eighteen DNA samples from s
Externí odkaz:
https://doaj.org/article/ccf74a0fcaad4147bb07e27344df98d0
Autor:
Noushin Saadullah Khani, Maria Richards-Brown, Jennifer F Linden, Lauren Varney, Elvira Bramon, Stephen Murtough, Chen Lu, Daniele Panconesi, Marius Cotic, Rosemary Abidoph, Alvin Richards-Belle, Daisy Mills
Publikováno v:
Wellcome Open Research, Vol 9 (2024)
Background Hearing loss is a risk factor for developing auditory hallucinations and other psychosis symptoms. To date, very little research has investigated hearing loss in individuals with a high genetic risk of developing schizophrenia and other ty
Externí odkaz:
https://doaj.org/article/a5b805b765e241f6b00c7961bd17f1ea
Autor:
Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental disorders (NDDs). Op
Externí odkaz:
https://doaj.org/article/fbba5398c7c74c1c917830d716485070
Autor:
Xiaoqing Wu, Shengrong Du, Bin Liang, Linjuan Su, Ying Li, Yuqin Chen, Lin Zheng, Na Lin, Hailong Huang, Liangpu Xu
Publikováno v:
Heliyon, Vol 10, Iss 20, Pp e38387- (2024)
Prenatal diagnosis is crucial for pregnancies from couples with a carrier of a balanced translocation. We retrospectively reviewed 195 pregnancies from 189 couples with a balanced translocation carrier. Of these, 126 were from natural conception, whi
Externí odkaz:
https://doaj.org/article/19972505b32849248ae3414a1d0ffc0e
Autor:
Ruibin Huang, Chunling Ma, Huanyi Chen, Fang Fu, Jin Han, Liyuan Liu, Lushan Li, Shujuan Yan, Jianqin Lu, Hang Zhou, You Wang, Fei Guo, Xiangyi Jing, Fucheng Li, Li Zhen, Dongzhi Li, Ru Li, Can Liao
Publikováno v:
Heliyon, Vol 10, Iss 17, Pp e36558- (2024)
Purpose: 17q12 copy number variants (CNVs) have variable presentations and incomplete penetrance, challenging prenatal counseling and management. This study aims to investigate the intrauterine phenotype. Methods: We included 48 fetuses diagnosed wit
Externí odkaz:
https://doaj.org/article/944f4e88ca6540fab02971bb4b0ad44a
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Externí odkaz:
https://doaj.org/article/6328d3f4fda440029d0628d0d205a4d2
Autor:
Wafik, Mohamed a, Pendlebury-Watt, Alice b, Price, Kelly c, Tomlinson, Charlotte a, Fowler, Emma b, Chandler, Natalie d, Holder-Espinasse, Muriel a, ⁎
Publikováno v:
In Best Practice & Research Clinical Obstetrics & Gynaecology December 2024 97