Works matching IS 17558794 AND DT 2024 AND VI 17 AND IP 1

Results: 283

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01942-3

By:

Nouri, Zahra;
Sarmadi, Akram;
Narrei, Sina;
Kianersi, Hamidreza;
Kianersi, Farzan;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02063-7

By:

Zhang, Na;
Huang, Nan;
Chen, Yu'e;
Chen, Xinying;
Zhuang, Jianlong

Publication type:

Article

The association between vitamin D receptor gene polymorphism FokI and type 2 diabetic kidney disease and its molecular mechanism: a case control study.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02061-9

By:

Zhao, Yaping;
Liu, Zehui;
Feng, Shiyu;
yang, Rong;
Ran, Zhenqin;
Zhu, Rong;
Ma, Lijuan;
Wang, Zizhou;
Chen, Lixin;
Han, Rui

Publication type:

Article

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02060-w

By:

Bharadwaj, Thashi;
Acharya, Anushree;
Khan, Fati Ullah;
Khan, Saadullah;
Ullah, Irfan;
Schrauwen, Isabelle;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

CLOCK gene 3'UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02056-6

By:

Sopori, Shreya;
Kavinay, Kavinay;
Bhan, Sonali;
Saxena, Shreya;
Medha, Medha;
Kumar, Rakesh;
Dhar, Arti;
Bhat, Audesh

Publication type:

Article

Development of a clinical metagenomics workflow for the diagnosis of wound infections.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02044-w

By:

Halford, Carl;
Le Viet, Thanh;
Edge, Katie;
Russell, Paul;
Moore, Nathan;
Trim, Fiona;
Moragues-Solanas, Lluis;
Lukaszewski, Roman;
Weller, Simon A.;
Gilmour, Matthew

Publication type:

Article

Genetic analysis of partial duplication of the long arm of chromosome 16.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02059-3

By:

Tang, Dan;
Chen, Ai;
Xu, Jing;
Huang, Yu;
Fan, Jun;
Wang, Jin;
Zhu, Hui;
Pi, Guanghuan;
Yang, Li;
Xiong, Fu;
Luo, Zemin;
Li, Gen;
Zeng, Lan;
Zhu, Shuyao

Publication type:

Article

Effects of different temperatures on chondrocyte growth: a transcriptomic analysis.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02070-8

By:

Zhao, Wei;
Wang, Yingsong;
Xie, Jingming;
Zhou, Jin;
Zhao, Zhi;
Li, Tao;
Shi, Zhiyue;
Xiao, Jie

Publication type:

Article

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02065-5

By:

Ren, Rong;
Liu, Yedan;
Liu, Peipei;
Zhao, Jing;
Hou, Mei;
Li, Shuo;
Chen, Zongbo;
Yuan, Aiyun

Publication type:

Article

Associations between (pharmaco-)genetic markers and postoperative pain after inguinal hernia repair – a prospective study protocol.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02064-6

By:

Wiss, Florine M.;
Dietz, Ulrich;
Thalheimer, Andreas;
Lamm, Sebastian;
Rosenberg, Robert;
Allemann, Samuel S.;
zu Schwabedissen, Henriette E. Meyer;
Bollinger, Anna;
Lampert, Markus L.

Publication type:

Article

Correction: Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.

Published in:

2024

By:

Kjellgren, Åsa;
Lundgren, Elenor;
Golovleva, Irina;
Kriström, Berit;
Werner, Mimmi

Publication type:

Correction Notice

Correlation between rs7041 and rs4588 polymorphisms in vitamin D binding protein gene and COVID-19-related severity and mortality.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02018-y

By:

Hamed, Eman Riad;
Abdelhady, Shaymaa Abdelraheem;
Al-Touny, Shimaa A.;
Kishk, Rania M.;
Mohamed, Marwa Hussein;
Rageh, Fatma;
Othman, Amira Ahmed Abdelrahman;
Abdelfatah, Wagdy;
Azab, Hasnaa

Publication type:

Article

Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review.

Published in:

2024

By:

Fang, Jiahui;
Li, Zhuoheng;
Zhang, Lin;
Liu, Qiaojian;
Mao, Jie;
Duan, Jintao

Publication type:

Case Study

Proteomic analysis illustrates the potential involvement of dysregulated ribosome-related pathways and disrupted metabolism during retinoic acid-induced cleft palate development.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02054-8

By:

Zhang, Wancong;
Chen, Liyun;
Ma, Aiwei;
Jiang, Wenshi;
Xu, Mengjing;
Bai, Xujue;
Zhou, Jianda;
Tang, Shijie

Publication type:

Article

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02027-x

By:

Kinsinger, Morgan;
Ivanisevic, Jelena;
Mithal, Divakar S.

Publication type:

Article

ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02039-7

By:

Lin, Isabella;
Awamleh, Zain;
Sinvhal, Mili;
Wan, Andrew;
Bondhus, Leroy;
Wei, Angela;
Russell, Bianca E.;
Weksberg, Rosanna;
Arboleda, Valerie A.

Publication type:

Article

Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02053-9

By:

Wieting, Jelte;
Jahn, Kirsten;
Bleich, Stefan;
Deest, Maximilian;
Frieling, Helge

Publication type:

Article

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02055-7

By:

Rezaie, Nahid;
Ghazanfari, Saeedeh Sadat;
Mousavikia, Seyede Mahsa;
Mansour Samaei, Nader;
Oladnabi, Morteza;
Sarli, Abdolazim;
Khosravi, Teymoor

Publication type:

Article

Construction of an immunogenic cell death-related LncRNA signature to predict the prognosis of patients with lung adenocarcinoma.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02042-y

By:

Wang, Shuaishuai;
Zhang, Yi

Publication type:

Article

Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02051-x

By:

Zhou, Ruiqing;
Wang, Jiahuan;
Wang, Ahui;
Wang, Shunqing;
Li, Yumiao;
Xu, Shilin;
Mo, Wenjian

Publication type:

Article

Genomic profiling and expanded use of targeted anticancer drugs in solid cancers with exhausted evidence-based treatment options (PRECODE): study protocol of a prospective, non-randomized, cohort study.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02033-z

By:

Hansen, Karin Holmskov;
Lyng, Maria Bibi;
Kodahl, Annette Raskov;
Asmussen, Jon Thor;
Arshad, Arman;
Petersen, Henrik;
Krogh, Lotte;
Ehmsen, Sidse;
Kristensen, Thomas Kielsgaard;
Ditzel, Henrik J.

Publication type:

Article

Private detection of relatives in forensic genomics using homomorphic encryption.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02037-9

By:

de Souza, Fillipe D. M.;
de Lassus, Hubert;
Cammarota, Ro

Publication type:

Article

Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02048-6

By:

Cai, Yang;
Lv, Hongyao;
Yuan, Meng;
Wang, Jiao;
Wu, Wenhui;
Fang, Xiaoyu;
Chen, Changying;
Mu, Jialing;
Liu, Fangyuan;
Gu, Xincheng;
Xie, Hankun;
Liu, Yu;
Xu, Haifeng;
Fan, Yao;
Shen, Chong;
Ma, Xiangyu

Publication type:

Article

Elevated expression of APOO as a potential prognostic marker in breast cancer: insights from bioinformatic analysis and experimental validation.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02047-7

By:

Bai, Yang;
Tang, Qian;
Zheng, Liang;
He, Jun;
Wang, Wenjian;
Li, Liqi;
Yu, Ju

Publication type:

Article

Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02049-5

By:

Kjellgren, Åsa;
Lundgren, Elenor;
Golovleva, Irina;
Kriström, Berit;
Werner, Mimmi

Publication type:

Article

Association between miR-30 polymorphism and ischemic stroke in Chinese population.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02041-z

By:

Luo, Yan-Ping;
Gu, Xi-Xi;
Liu, Chao;
Huang, Ying;
Lu, Li-Jiang;
Zhang, Shu-Yu;
Yuan, Yu-Lin

Publication type:

Article

Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

Published in:

2024

By:

Kassem, Perihan Hamdy;
Montasser, Iman Fawzy;
Mahmoud, Mohamed Ramy;
Ghorab, Rasha Ahmed;
AbdelHakam, Dina A.;
Fathi, Marium El Sayed Ahmad;
Wahed, Marwa A. Abdel;
Mohey, Khaled;
Ibrahim, Mariam;
El Hadidi, Mohamed;
Masssoud, Yasmine M.;
Salah, Manar;
Abugable, Arwa;
Bahaa, Mohamad;
Khamisy, Sherif El;
Meteini, Mahmoud El

Publication type:

Correction Notice

A systematic review and meta-analysis of carbapenem-resistant Enterobacteriaceae in West Africa.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02043-x

By:

Somda, Namwin Siourimè;
Nyarkoh, Rabbi;
Kotey, Fleischer C. N.;
Tetteh-Quarcoo, Patience B.;
Donkor, Eric S.

Publication type:

Article

Comparative meta-analysis of transcriptomic studies in spinal muscular atrophy: comparison between tissues and mouse models.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02040-0

By:

Kumar, Shamini Hemandhar;
Brandt, Katharina;
Claus, Peter;
Jung, Klaus

Publication type:

Article

Overexpression of CDCA8 predicts poor prognosis and drug insensitivity in lung adenocarcinoma.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02019-x

By:

Gu, Huiquan;
Gao, Xinzheng;
Han, Wenlong;
Wang, Fangyu;
Zhang, Hanqiang;
Yao, Longyu;
Chen, Weimin;
Liu, Qiang

Publication type:

Article

Co-regulated ceRNA network mediated by circRNA and lncRNA in patients with gouty arthritis.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02038-8

By:

Xu, Yanqiu;
Tian, Jiayu;
Wang, Miao;
Liu, Jinkun;
Cao, Wenfu;
wu, Bin

Publication type:

Article

SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02026-y

By:

Ishihara, Tomohiko;
Koyama, Akihide;
Atsuta, Naoki;
Tada, Mari;
Toyoda, Saori;
Kashiwagi, Kenta;
Hirokawa, Sachiko;
Hatano, Yuya;
Yokoseki, Akio;
Nakamura, Ryoichi;
Tohnai, Genki;
Izumi, Yuishin;
Kaji, Ryuji;
Morita, Mitsuya;
Tamura, Asako;
Kano, Osamu;
Aoki, Masashi;
Kuwabara, Satoshi;
Kakita, Akiyoshi;
Sobue, Gen

Publication type:

Article

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02036-w

By:

Bai, Guibin;
Yuan, Rougang;
Yuan, Jian;
Liu, Yanqin;
Zhao, Shaozhi;
Zhang, Xinwen

Publication type:

Article

Nanopore-based full-length transcriptome sequencing for understanding the underlying molecular mechanisms of rapid and slow progression of diabetes nephropathy.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02006-2

By:

E, Jing;
Liu, Shun-Yao;
Ma, Dan-Na;
Zhang, Guo-Qing;
Cao, Shi-Lu;
Li, Bo;
Lu, Xiao-hua;
Luo, Hong-Yan;
Bao, Li;
Lan, Xiao-Mei;
Fu, Rong-Guo;
Zheng, Ya-Li

Publication type:

Article

Investigation of in vitro susceptibility and resistance mechanisms to amikacin among diverse carbapenemase-producing Enterobacteriaceae.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02016-0

By:

Wu, Xiaoyan;
Li, Xiaosi;
Yu, Junjie;
Fan, Chenliang;
Shen, Mengli;
Li, Xiangchen

Publication type:

Article

Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02035-x

By:

Han, Chunxiao;
Chen, Changshui;
Zhang, Yuxin;
Li, Haibo

Publication type:

Article

Blood-based DNA methylation and exposure risk scores predict PTSD with high accuracy in military and civilian cohorts.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02002-6

By:

Wani, Agaz H.;
Katrinli, Seyma;
Zhao, Xiang;
Daskalakis, Nikolaos P.;
Zannas, Anthony S.;
Aiello, Allison E.;
Baker, Dewleen G.;
Boks, Marco P.;
Brick, Leslie A.;
Chen, Chia-Yen;
Dalvie, Shareefa;
Fortier, Catherine;
Geuze, Elbert;
Hayes, Jasmeet P.;
Kessler, Ronald C.;
King, Anthony P.;
Koen, Nastassja;
Liberzon, Israel;
Lori, Adriana;
Luykx, Jurjen J.

Publication type:

Article

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02014-2

By:

Zhuang, Jianlong;
Wang, Junyu;
Huang, Nan;
Zheng, Yu;
Xu, Liangpu

Publication type:

Article

Construction of a molecular diagnostic system for neurogenic rosacea by combining transcriptome sequencing and machine learning.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02008-0

By:

Mao, Rui;
Li, Ji

Publication type:

Article

The signature of SARS-CoV-2-related genes predicts the immune therapeutic response and prognosis in breast cancer.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02032-0

By:

Fu, Ruizhi;
Chen, Yequn;
Zhao, Jiajing;
Xie, Xiaojun

Publication type:

Article

Association between venous thromboembolism and atrial fibrillation: a Mendelian randomization study.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02034-y

By:

Dang, Caijing;
Liao, Wenkai;
Xu, Lin;
Zhao, Wenshu;
Lu, Yuxia

Publication type:

Article

New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01974-9

By:

Chen, Xiumin;
Shen, Xiaofang;
Yang, Tao;
Cao, Yixuan;
Zhao, Xiuli

Publication type:

Article

The Toll-like receptor 4 antagonist TAK-242 in combination with sodium hyaluronate alleviates postoperative abdominal adhesion in a mouse model.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02031-1

By:

Liu, Dong;
Tong, Haochongyang;
Guo, Yu;
Liu, Bin;
Ye, Changchun;
Yang, Ni;
Wu, Yunhua

Publication type:

Article

RNA-seq validation of microRNA expression signatures for precision melanoma diagnosis and prognostic stratification.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02028-w

By:

Love, Christopher G.;
Coombs, Lauren;
Van Laar, Ryan

Publication type:

Article

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02024-0

By:

Behera, Sairam;
Belyeu, Jonathan R.;
Chen, Xiao;
Paulin, Luis F.;
Nguyen, Ngoc Quynh H.;
Newman, Emma;
Mahmoud, Medhat;
Menon, Vipin K.;
Qi, Qibin;
Joshi, Parag;
Marcovina, Santica;
Rossi, Massimiliano;
Roller, Eric;
Han, James;
Onuchic, Vitor;
Avery, Christy L.;
Ballantyne, Christie M.;
Rodriguez, Carlos J.;
Kaplan, Robert C.;
Muzny, Donna M.

Publication type:

Article

A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02029-9

By:

Zhou, Lin;
Peng, Ying;
Chen, Jing;
Xi, Hui;
Wang, Si;
Kang, Gehua;
Tang, Wanglan;
Xie, Wanqin

Publication type:

Article

Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02023-1

By:

Du, Qiang;
Zhang, Yike;
Hong, Rujian;
Tulamaiti, Nuermaimaiti;
Abulaiti, Maiheba;
Awuti, Nueraili;
Wusiman, Wulamu;
Alimu, Xirinayi;
Wusiman, Ayinuer;
Kadier, Nueraihaimaiti;
Li, Huilin;
Zhang, Zhifei;
Qi, Huan;
Xia, Zhipeng;
Abudukeyoumu, Ayituersun;
Li, Huawei;
Guo, Luo

Publication type:

Article

Retraction Note: A novel necroptosis signature for predicting survival in lung adenocarcinoma.

Published in:

2024

By:

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

Publication type:

Correction Notice

Torsades de Pointes electrical storm in children with KCNH2 mutations.

Published in:

2024

By:

Zhang, Li;
Xu, Meng;
Yan, Zhen;
Han, Yan;
Jiang, Xunwei;
Xiao, Tingting;
Hou, Cuilan;
Li, Yun

Publication type:

Case Study

Transcriptome-wide N6-methyladenosine modification profiling of long non-coding RNAs in patients with recurrent implantation failure.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02013-3

By:

Wang, Ting;
Zhang, Lili;
Gao, Wenxin;
Liu, Yidan;
Yue, Feng;
Ma, Xiaoling;
Liu, Lin

Publication type:

Article