Obálka

Identification of Novel Gene variants in Patients with Alzheimer's Disease by Whole Exome Sequencing

<p>Alzheimer's Disease (AD) affects millions of elderly people, many of the patients partially or completely lost the capability to maintain independent daily living [1-3]. Limited progress was made in the past decades in the designing intervention approaches that could effectively delay...

Uloženo v:

Podrobná bibliografie
Hlavní autoři:	Xiaodong Pan (Autor), Murong Yang (Autor), Jingjing Xiang (Autor), Qi Pan (Autor), Menghao Yang (Autor), Jing Xia (Autor), Lang Cui (Autor), Ruijie Luo (Autor), Qinlin Lou (Autor), Chen Zhou (Autor), Yiran He (Autor), Kuichun Zhu (Autor)
Médium:	Kniha
Vydáno:	Annals of Alzheimer's and Dementia Care - Peertechz Publications, 2020-05-12.
Témata:	Research Article
On-line přístup:	Connect to this object online.
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
Autor: Tawfiq Froukh, a další
Vydáno: (2020)

Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis
Autor: Liu L, a další
Vydáno: (2022)

Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema
Autor: Neda M. Bogari, a další
Vydáno: (2020)

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia
Autor: Dafeng Lin, a další
Vydáno: (2023)

Identification of potential causal variants for premature ovarian failure by whole exome sequencing
Autor: Haengun Jin, a další
Vydáno: (2020)

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility
Autor: Xing Zhang, a další
Vydáno: (2023)

A Case of Mitochondrial Trifunctional Protein Deficiency with Variants Diagnosed Using Whole-Exome Sequencing
Autor: Chan Kim, a další
Vydáno: (2021)

Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data
Autor: Li Zhang, a další
Vydáno: (2023)

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients
Autor: Shaghayegh SABRI, a další
Vydáno: (2016)

Whole-exome sequencing of a pedigree segregating asthma
Autor: DeWan Andrew T, a další
Vydáno: (2012)

A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing
Autor: Huanfang Xu, a další
Vydáno: (2023)

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Autor: Jun Wang, a další
Vydáno: (2020)

Whole exome sequencing analysis of 167 men with primary infertility
Autor: Haiyan Zhou, a další
Vydáno: (2024)

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome
Autor: Shao-Wen Wu, a další
Vydáno: (2021)

Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population
Autor: Lama Binobaid, a další
Vydáno: (2024)

Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma
Autor: Ege Ülgen, a další
Vydáno: (2021)

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets
Autor: Nahid Tavana, a další
Vydáno: (2022)

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
Autor: Ashish Kumar Singh, a další
Vydáno: (2023)

Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature
Autor: Q.C. Wu, a další
Vydáno: (2020)

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing
Autor: Lin Zhang, a další
Vydáno: (2020)

A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing
Autor: Serwa Ghasemi, a další
Vydáno: (2022)

Trio-based whole exome sequencing in patients with ectopic posterior pituitary
Autor: Arthur Lyra, a další
Vydáno: (2024)

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Autor: Dae Joong Ma, a další
Vydáno: (2021)

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing
Autor: Perihan Hamdy Kassem, a další
Vydáno: (2024)

Whole‐exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma
Autor: Timothy M D'Alfonso, a další
Vydáno: (2021)

Genomics and tumor microenvironment of breast mucoepidermoid carcinoma based on whole-exome and RNA sequencing
Autor: Yan Ge, a další
Vydáno: (2024)

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing
Autor: Qi Yang, a další
Vydáno: (2022)

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies
Autor: Triantafyllia Brozou, a další
Vydáno: (2023)

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
Autor: Erfan Kohansal, a další
Vydáno: (2024)

Case report: mutation analysis of primary pulmonary lymphoepithelioma-like carcinoma via whole-exome sequencing
Autor: Hong Xuan, a další
Vydáno: (2019)

Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
Autor: Victor Borda, a další
Vydáno: (2021)

Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis
Autor: Paula Cristina Barros Pereira, a další
Vydáno: (2015)

Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis
Autor: Paula Cristina Barros Pereira, a další
Vydáno: (2015)

Mapping of the mutational landscape of Juvenile Myelomonocytic Leukemia patients by whole exome sequencing
Autor: Aditya Kumar Gupta, a další
Vydáno: (2024)

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability
Autor: Yoon Hee Jo, a další
Vydáno: (2024)

Whole-Exome Sequencing: Is It a Panacea for Every Diagnostic Enigma in Clinical Medicine?
Autor: Kirtisudha Mishra
Vydáno: (2024)

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
Autor: Alain Calender, a další
Vydáno: (2018)

Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing
Autor: Perihan Hamdy Kassem, a další
Vydáno: (2024)

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Autor: Zhu Xintong, a další
Vydáno: (2023)

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
Autor: Wei Huang, a další
Vydáno: (2023)