Works matching IS 17558794 AND DT 2023

Results: 343

Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01780-9

By:

Ghasemi, Serwa;
Mahdavi, Mohammad;
Maleki, Majid;
Salahshourifar, Iman;
Kalayinia, Samira

Publication type:

Article

Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01757-8

By:

Saleem, Saima;
Imran, Zunaira;
Samdani, Azam;
Khoso, Bahram;
Zehra, Sitwat;
Azhar, Abid

Publication type:

Article

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01767-6

By:

Liu, Danhua;
Zhao, Yongli;
Xue, Xia;
Hou, Xinyue;
Xu, Hongen;
Zhao, Xinghua;
Tian, Yongan;
Tang, Wenxue;
Guo, Jiancheng;
Xu, Changbao

Publication type:

Article

Comparing variants related to chronic diseases from genome-wide association study (GWAS) and the cancer genome atlas (TCGA).

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01758-7

By:

Jeon, Soohyun;
Park, Chaewon;
Kim, Jineui;
Lee, Jung Hoon;
Joe, Sung-yune;
Ko, Young Kyung;
Gim, Jeong-An

Publication type:

Article

A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01778-3

By:

Cheng, Chen;
Yang, Fan;
Zhao, Sheng;
Chen, Xinlin

Publication type:

Article

Construction of 11 metabolic-related lncRNAs to predict the prognosis in lung adenocarcinoma.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01764-9

By:

Jiang, Wei;
Xu, Zhanyu;
Huang, Liuliu;
Qin, Fanglu;
Yuan, Liqiang;
Sun, Yu;
Qin, Junqi;
Deng, Kun;
Zheng, Tiaozhan;
Long, Xiaomao;
Li, Shikang

Publication type:

Article

An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01750-1

By:

Dantsev, Ilya S;
Parfenenko, Mariia A;
Radzhabova, Gulnara M;
Nikolaeva, Ekaterina A

Publication type:

Article

Association of lncRNA THRIL, HOTAIR genes variations and expression levels with pulmonary tuberculosis.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01770-x

By:

Wang, Li-Jun;
Li, Rui;
Zhang, Tian-Ping;
Li, Hong-Miao

Publication type:

Article

Unveiling the role of miR-137-3p/miR-296-5p/SERPINA3 signaling in colorectal cancer progression: integrative analysis of gene expression profiles and in vitro studies.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01763-w

By:

Liu, Huimin;
Wu, Xingxing;
Wang, Dandan;
Li, Quanxi;
Zhang, Xin;
Xu, Liang

Publication type:

Article

Genetic study of the causal effect of lipid profiles on insomnia risk: a Mendelian randomization trial.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01761-y

By:

Gong, Quancai;
Guo, Canshou

Publication type:

Article

BMC3PM: bioinformatics multidrug combination protocol for personalized precision medicine and its application in cancer treatment.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01745-y

By:

Mokhtari, Majid;
Khoshbakht, Samane;
Akbari, Mohammad Esmaeil;
Moravveji, Sayyed Sajjad

Publication type:

Article

CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case–control study.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01737-y

By:

Huang, Kang;
Ma, Tianyi;
Li, Qiang;
Zhong, Zanrui;
Zhou, Yilei;
Zhang, Wei;
Qin, Ting;
Tang, Shilin;
Zhong, Jianghua;
Lu, Shijuan

Publication type:

Article

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01753-y

By:

Peng, Ying;
Zhou, Lin;
Chen, Jing;
Huang, Xiaoliang;
Pang, Jialun;
Liu, Jing;
Tang, Wanglan;
Yang, Shuting;
Liang, Changbiao;
Xie, Wanqin

Publication type:

Article

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01743-0

By:

Aguilera, Cinthia;
Esteve-Garcia, Anna;
Casasnovas, Carlos;
Vélez-Santamaria, Valentina;
Rausell, Laura;
Gargallo, Pablo;
Garcia-Planells, Javier;
Alía, Pedro;
Llecha, Núria;
Padró-Miquel, Ariadna

Publication type:

Article

Prognosis prediction based on methionine metabolism genes signature in gliomas.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01754-x

By:

Zhou, Sujin;
Zhao, Xianan;
Zhang, Shiwei;
Tian, Xue;
Wang, Xuepeng;
Mu, Yunping;
Li, Fanghong;
Zhao, Allan Z.;
Zhao, Zhenggang

Publication type:

Article

Causal associations between liver traits and Colorectal cancer: a Mendelian randomization study.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01755-w

By:

Ni, Ying;
Wang, Wenkai;
Liu, Yongming;
Jiang, Yun

Publication type:

Article

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01765-8

By:

Yan, Lulu;
He, Yan;
Zhang, Yuxin;
Liu, Yingwen;
Xu, Limin;
Han, Chunxiao;
Zhao, Yudan;
Li, Haibo

Publication type:

Article

Y chromosome AZFc microdeletion may have negative effect on embryo euploidy: a retrospective cohort study.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01760-z

By:

Jiang, Wei;
Xie, Qijun;
Li, Xin;
Yang, Ye;
Luan, Ting;
Ni, Danyu;
Chen, Yuting;
Wang, Xinyu;
Zhao, Chun;
Ling, Xiufeng

Publication type:

Article

Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01766-7

By:

Cho, Sung Ho;
Yun, Yejin;
Lee, Dae Hee;
Cha, Joo Hyun;
Lee, So Min;
Lee, Jehyun;
Suh, Myung Hwan;
Lee, Jun Ho;
Oh, Seung-Ha;
Park, Moo Kyun;
Lee, Sang-Yeon

Publication type:

Article

A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01759-6

By:

Wang, Jie;
Wu, Yihan;
Dong, Hong;
Ji, Yunpeng;
Zhang, Lichun;
Liu, Yaxian;
Liu, Yueshi;
Gao, Xin;
Jia, Yueqi;
Wang, Xiaohua

Publication type:

Article

Vitamin D receptor rs3782905 and vitamin D binding protein rs7041 polymorphisms are associated with hepatocellular carcinoma susceptibility in cirrhotic HCV patients.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01749-8

By:

El-masry, Asmaa Samir;
Medhat, Amina M.;
El-Bendary, Mahmoud;
Mohamed, Rania Hassan

Publication type:

Article

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01716-3

By:

Moschella, Antonino;
Capra, Anna Paola;
Corica, Domenico;
Pepe, Giorgia;
Di Tommaso, Silvia;
Sallicandro, Ester;
Wasniewska, Malgorzata G.;
Briuglia, Silvana;
Aversa, Tommaso

Publication type:

Article

Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01746-x

By:

Hua, Chunxiao;
Liu, Lina;
Kong, Xiangdong

Publication type:

Article

Key m<sup>6</sup>A regulators mediated methylation modification pattern and immune infiltration characterization in hepatic ischemia-reperfusion injury.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01751-0

By:

Zhang, Yixi;
Qi, Can;
Guo, Yiwen;
Li, Xuefeng;
Zhu, Zebin

Publication type:

Article

Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro analyses.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01741-2

By:

Xu, Yuanyuan;
Xu, Jianchang;
Chen, Sirong;
Zhou, Anbang;
Huang, Guangjing;
Huang, Shidao;
Yu, Dianbo;
Wu, Biaoliang

Publication type:

Article

A novel necroptosis signature for predicting survival in lung adenocarcinoma.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01748-9

By:

Zang, Kui;
Wang, Min;
Zhu, Xingxing;
Yao, Bin;
Huang, Ying

Publication type:

Article

Integrated analysis of microRNA and mRNA expression profiles in Preeclampsia.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01740-3

By:

Ping, Zepeng;
Feng, Ying;
Lu, Ying;
Ai, Ling;
Jiang, Huling

Publication type:

Article

Specific expression profile of follicular fluid-derived exosomal microRNAs in patients with diminished ovarian reserve.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01756-9

By:

Shen, Kai-Yuan;
Dai, Xiao-Li;
Li, Shun;
Huang, Fen;
Chen, Li-Qun;
Luo, Ping;
Qu, Xiao-Li

Publication type:

Article

An association between ATP7B expression and human cancer prognosis and immunotherapy: a pan-cancer perspective.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01714-5

By:

Zhang, Zhanzhan;
Zhang, Aobo;
Shi, Yunpeng;
Zhao, Zijun;
Zhao, Zongmao

Publication type:

Article

Evaluation of causal associations between interleukin-18 levels and immune-mediated inflammatory diseases: a Mendelian randomization study.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01744-z

By:

Wu, Jialing;
Zhang, Xi;
Wu, Dongze;
Jin, Ou;
Gu, Jieruo

Publication type:

Article

Screening of key genes in the pathogenesis of muscle atrophy in CKD-PEW children based on RNA sequencing.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01718-1

By:

Ying, Liang;
Yeping, Jiang;
Hui, Wang;
Nan, Zhou;
FuQian;
Ying, Shen

Publication type:

Article

Identification of differentially expressed genes associated with the pathogenesis of gastric cancer by bioinformatics analysis.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01720-7

By:

Abdolahi, Fatemeh;
Shahraki, Ali;
Sheervalilou, Roghayeh;
Mortazavi, Sedigheh Sadat

Publication type:

Article

Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01747-w

By:

Saglia, Claudia;
Bracciamà, Valeria;
Trotta, Luca;
Mioli, Fiorenza;
Faini, Angelo Corso;
Brach Del Prever, Giulia Margherita;
Kalantari, Silvia;
Luca, Maria;
Romeo, Carmelo Maria;
Scolari, Caterina;
Peruzzi, Licia;
Calvo, Pier Luigi;
Mussa, Alessandro;
Fenoglio, Roberta;
Roccatello, Dario;
Alberti, Claudio;
Carli, Diana;
Amoroso, Antonio;
Deaglio, Silvia;
Vaisitti, Tiziana

Publication type:

Article

Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant.

Published in:

2023

By:

Ying, Shengjie;
Heung, Tracy;
Thiruvahindrapuram, Bhooma;
Engchuan, Worrawat;
Yin, Yue;
Blagojevic, Christina;
Zhang, Zhaolei;
Hegele, Robert A.;
Yuen, Ryan K. C.;
Bassett, Anne S.

Publication type:

Correction Notice

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01739-w

By:

Belkadi, Aziz;
Thareja, Gaurav;
Khan, Adnan;
Stephan, Nisha;
Zaghlool, Shaza;
Halama, Anna;
Ahmed, Ayeda Abdulsalam;
Mohamoud, Yasmin A.;
Malek, Joel;
Suhre, Karsten;
Malik, Rayaz A.

Publication type:

Article

Integrated single-cell and bulk RNA sequencing analysis identifies a neoadjuvant chemotherapy-related gene signature for predicting survival and therapy in breast cancer.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01727-0

By:

Zhang, Xiaojun;
Feng, Ran;
Guo, Junbin;
Pan, Lihui;
Yao, Yarong;
Gao, Jinnan

Publication type:

Article

Identification of genetic variants in two families with Keratoconus.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01738-x

By:

Lin, Qinghong;
Wang, Xuejun;
Han, Tian;
Zhou, Xingtao

Publication type:

Article

Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01734-1

By:

Yin, Yanling;
Zhang, Yu;
Zhang, Xiaobo;
Zhang, Qi;
Wang, Jiachen;
Yang, Tian;
Liang, Chen;
Li, Wu;
Liu, Jie;
Ma, Xiaojuan;
Duan, Jinwei;
Shi, Wenzhen;
Tian, Ye

Publication type:

Article

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01733-2

By:

Xie, Xiaorui;
Huang, Baojia;
Su, Linjuan;
Cai, Meiying;
Chen, Yuqin;
Wu, Xiaoqing;
Xu, Liangpu

Publication type:

Article

The diagnostic/prognostic roles and biological function of the IFIT family members in acute myeloid leukemia.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01735-0

By:

Zhao, YiFan;
Zhang, Yi;
Lu, WenYi;
Sun, Rui;
Guo, RuiTing;
Cao, XinPing;
Liu, Xingzhong;
Lyu, Cuicui;
Zhao, MingFeng

Publication type:

Article

Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01728-z

By:

Meng, Linxue;
Huang, Dishu;
Xie, Lingling;
Song, Xiaojie;
Luo, Hanyu;
Gui, Jianxiong;
Ding, Ran;
Zhang, Xiaofang;
Jiang, Li

Publication type:

Article

Balancing the interplay of histone deacetylases and non-coding genomes: a step closer to understand the landscape of cancer treatment.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01724-3

By:

Pu, Jingjing;
Liu, Ting;
Sharma, Amit;
Schmidt-Wolf, Ingo G. H.

Publication type:

Article

Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Published in:

2023

By:

Cannon, S.;
Williams, M.;
Gunning, A. C.;
Wright, C. F.

Publication type:

Correction Notice

Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01731-4

By:

Dong, Xing-sheng;
Wen, Xiao-jun;
Zhang, Sheng;
Wang, De-gang;
Xiong, Yi;
Li, Zhi-ming

Publication type:

Article

Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01730-5

By:

Chang, Lixian;
Zhang, Li;
Zhao, Beibei;
Cheng, Xuelian;
Wan, Yang;
Zhang, Ranran;
Yuan, Weiping;
Gao, Xingjie;
Zhu, Xiaofan

Publication type:

Article

Genetic profile of Chinese patients with small bowel cancer categorized by anatomic location.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01736-z

By:

Shi, Chengmin;
Ma, Junrui;
Zhang, Tong;
Shi, Yanqiang;
Duan, Weiming;
Huang, Depei;
Zhang, Hushan;
Zeng, Yujian

Publication type:

Article

Identification and validation of autophagy-related genes in primary open-angle glaucoma.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01722-5

By:

Xu, Wanjing;
Sun, Yuhao;
Zhao, Shuang;
Zhao, Jun;
Zhang, Juanmei

Publication type:

Article

Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01640-6

By:

Satoh, Chisei;
Yoshiura, Koh-ichiro;
Mishima, Hiroyuki;
Yoshida, Haruo;
Takahashi, Haruo;
Kumai, Yoshihiko

Publication type:

Article

OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01725-2

By:

Xu, Peiwen;
Wang, Lijuan;
Li, Jing;
Huang, Sexin;
Gao, Ming;
Kang, Ranran;
Li, Jie;
Xie, Hongqiang;
Liu, Xiaowei;
Yan, Junhao;
Gao, Xuan;
Gao, Yuan

Publication type:

Article

A phenome-wide approach to identify causal risk factors for deep vein thrombosis.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01710-9

By:

Constantinescu, Andrei-Emil;
Bull, Caroline J.;
Goudswaard, Lucy J.;
Zheng, Jie;
Elsworth, Benjamin;
Timpson, Nicholas J.;
Moore, Samantha F.;
Hers, Ingeborg;
Vincent, Emma E.

Publication type:

Article