Results 241 to 250 of about 178,485 (305)

The genetic landscape of primary malignant melanoma of the cervix using integrated bioinformatics analysis and whole-exome sequencing. [PDF]

Front Oncol
Zhou J, Xu T, Chen C, Ping Y.
europepmc   +1 more source

Molecular mapping in head and neck adenoid cystic carcinoma by pathological grade using whole-exome sequencing and spatial transcriptome

Yuelu Zhu, Li Lin, Shun Wang, Bingzhi Wang, Lin Dong, Zhe Zhang, Ying Wang, Jiangtao Li, Haifeng Zhang, Haizhen Lu   +9 more
openalex   +1 more source

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China [PDF]

Yanan Wang, Fan Yin, Yuqiong Chai, Jiapei Jin, Pai Zhang, Qianqian Tan, Zhigang Chen   +6 more
openalex   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

BMP2 alterations in mucinous cystadenocarcinoma of the breast: insights from whole-exome sequencing. [PDF]

PeerJ
Li Z, Gong Y, Li G, Jiang Q, Dong J, Chen R.   +5 more
europepmc   +1 more source

Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women

, 2017
Yan Yu, Bingjian Lü, Weiguo Lü, Shuang Li, Xiuqin Li, Xinyu Wang, Xiaoyun Wan, Yaxia Chen, Suwen Feng, Jia Yao, Ru Yang, Fangxu Tang, Xiong Li, Shulan Zhang, Xinyan Wang, Heng Wei, Zhi‐Lan Peng, Lin Lü, Zhong Huizhen, Linjun Zhao, Zhangqian Huang, Lin Lin, Weihong Shen, Yan Lü, Zhu Cao, Jian Zou, Yuejiang Ma, Xiaojing Chen, Qifang Tian, Shiming Lü, Pengyuan Liu, Ding Ma, Xing Xie, Xiaodong Cheng   +33 more
openalex   +2 more sources

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Whole-exome sequencing for identification of specific gene mutations in an Indian cohort of triple-negative breast cancer patients. [PDF]

Discov Oncol
Preeti P, Das AM, Kumar P, Gogia A, Kumar L, Deo SVS, Mathur S, Janardhanan R, Rawal K, Garg M, Das BC.   +10 more
europepmc   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Jarral A, Basharat R, Sajid S, Arshad K, Ali I, Ansar M.   +5 more
europepmc   +1 more source