Cargando…

Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Juan, Chen, Lijia, Tam, Oi Sin, Huang, Xiu-Feng, Pang, Chi-Pui, Jin, Zi-Bing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2014
Materias:	Clinical Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102027/ https://www.ncbi.nlm.nih.gov/pubmed/25101269 http://dx.doi.org/10.1155/2014/302487

Ejemplares similares

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families
por: Shen, Chang, et al.
Publicado: (2022)

Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
por: Dan, Handong, et al.
Publicado: (2020)

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing
por: Kocaaga, Ayca, et al.
Publicado: (2023)

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
por: Almoguera, Berta, et al.
Publicado: (2015)

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Gao, Meng, et al.
Publicado: (2016)

Whole‐exome sequencing of ovarian cancer families uncovers putative predisposition genes
por: Zhu, Qianqian, et al.
Publicado: (2019)

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population
por: Di, Yanan, et al.
Publicado: (2016)

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa
por: Guo, Hui, et al.
Publicado: (2015)

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa
por: Xiao, Ting, et al.
Publicado: (2021)

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
por: Hirvonen, Elina A. M., et al.
Publicado: (2017)

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa
por: Xiao, Xiaoqiang, et al.
Publicado: (2019)

Differential pattern of RP1 mutations in retinitis pigmentosa
por: Zhang, Xin, et al.
Publicado: (2010)

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
por: Liu, Yuan, et al.
Publicado: (2015)

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa
por: Katagiri, Satoshi, et al.
Publicado: (2014)

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa
por: Ma, Xiangyu, et al.
Publicado: (2015)

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa
por: Wawrocka, Anna, et al.
Publicado: (2023)

2217: A transgenic retinitis pigmentosa zebrafish model for drug discovery
por: Ganzen, Logan, et al.
Publicado: (2018)

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa
por: Yi, Zhen, et al.
Publicado: (2020)

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing
por: Xu, Yan, et al.
Publicado: (2015)

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
por: Esteban-Jurado, Clara, et al.
Publicado: (2015)

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
por: Vogelaar, Ingrid P, et al.
Publicado: (2017)

Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa
por: Yang, Yin, et al.
Publicado: (2016)

Modeling retinitis pigmentosa through patient-derived retinal organoids
por: Li, Yan-Ping, et al.
Publicado: (2021)

Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family
por: Jin, Xin, et al.
Publicado: (2016)

Identification of new breast cancer predisposition genes via whole exome sequencing
por: Southey, MC, et al.
Publicado: (2012)

Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
por: Yang, Liping, et al.
Publicado: (2013)

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa
por: Gong, Bo, et al.
Publicado: (2015)

Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing
por: Huang, Xiangjun, et al.
Publicado: (2018)

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing
por: Lin, Ting-Yi, et al.
Publicado: (2021)

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
por: Huang, Xiu-Feng, et al.
Publicado: (2013)

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
por: Méndez-Vidal, Cristina, et al.
Publicado: (2013)

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
por: Xiao, Yi-shuang, et al.
Publicado: (2023)

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
por: Hamdi, Yosr, et al.
Publicado: (2018)

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome
por: Soares de Lima, Yasmin, et al.
Publicado: (2021)

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families
por: Fidalgo, Felipe, et al.
Publicado: (2022)

Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa
por: Sun, Yan, et al.
Publicado: (2020)

Retinitis pigmentosa
por: Hamel, Christian
Publicado: (2006)

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing
por: Lee, Ning-Yuan, et al.
Publicado: (2022)

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures
por: Zhou, Wei, et al.
Publicado: (2022)

SLC7A14 linked to autosomal recessive retinitis pigmentosa
por: Jin, Zi-Bing, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_pneo73ibkn8fee6qasvlgoi8ir