Works matching IS 17558794 AND DT 2021 AND VI 14 AND IP 1

Results: 292

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01014-w

By:

Cao, Lu;
Zhang, Ruixue;
Yong, Liang;
Chen, Shirui;
Zhang, Hui;
Chen, Weiwei;
Xu, Qiongqiong;
Ge, Huiyao;
Mao, Yiwen;
Zhen, Qi;
Yu, Yafen;
Hu, Xia;
Sun, Liangdan

Publication type:

Article

Epigenetic landscapes of intracranial aneurysm risk haplotypes implicate enhancer function of endothelial cells and fibroblasts in dysregulated gene expression.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01007-9

By:

Poppenberg, Kerry E.;
Zebraski, Haley R.;
Avasthi, Naval;
Waqas, Muhammad;
Siddiqui, Adnan H.;
Jarvis, James N.;
Tutino, Vincent M.

Publication type:

Article

Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01016-8

By:

Cléophat, Jude Emmanuel;
Dorval, Michel;
El Haffaf, Zaki;
Chiquette, Jocelyne;
Collins, Stephanie;
Malo, Benjamin;
Fradet, Vincent;
Joly, Yann;
Nabi, Hermann

Publication type:

Article

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01001-1

By:

Berti, Beatrice;
Longo, Giovanna;
Mari, Francesco;
Doccini, Stefano;
Piccolo, Ilaria;
Donati, Maria Alice;
Moro, Francesca;
Guerrini, Renzo;
Santorelli, Filippo M.;
Petruzzella, Vittoria

Publication type:

Article

A family with Milroy disease caused by the FLT4/VEGFR3 gene variant c.2774 T > A.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00997-w

By:

Sui, Yu;
Lu, Yongping;
Lin, Meina;
Ni, Xiang;
Chen, Xinren;
Li, Huan;
Jiang, Miao

Publication type:

Article

A method for cryopreservation and single nucleus RNA-sequencing of normal adult human interventricular septum heart tissue reveals cellular diversity and function.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01011-z

By:

Larson, Amy;
Chin, Michael T.

Publication type:

Article

Repeat to gene expression ratios in leukemic blast cells can stratify risk prediction in acute myeloid leukemia.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01003-z

By:

Onishi-Seebacher, M.;
Erikson, G.;
Sawitzki, Z.;
Ryan, D.;
Greve, G.;
Lübbert, M.;
Jenuwein, T.

Publication type:

Article

Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01017-7

By:

Davila, Jaime I.;
Chanana, Pritha;
Sarangi, Vivekananda;
Fogarty, Zachary C.;
Weroha, S. John;
Guo, Ruifeng;
Goode, Ellen L.;
Huang, Yajue;
Wang, Chen

Publication type:

Article

Screening the genome for HCC-specific CpG methylation signatures as biomarkers for diagnosis and prognosis evaluation.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01015-9

By:

Zhang, Rui-kun;
Liu, Jia-lin

Publication type:

Article

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01013-x

By:

Jin, Chunyan;
Gu, Zhiping;
Jiang, Xiaohan;
Yu, Pei;
Xu, Tianhui

Publication type:

Article

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01009-7

By:

Rejeb, Imen;
Jerbi, Mouna;
Jilani, Houweyda;
Gaied, Hanène;
Elaribi, Yasmina;
Hizem, Syrine;
Aoudia, Raja;
Hedri, Hafedh;
Zaied, Chiraz;
Abid, Salwa;
Bacha, Hassen;
BenAbdallah, Taieb;
BenJemaa, Lamia;
Goucha, Rim

Publication type:

Article

Evaluation of the effect of MTNR1B rs10830963 gene variant on the therapeutic efficacy of nateglinide in treating type 2 diabetes among Chinese Han patients.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01004-y

By:

Song, Jin-Fang;
Zhang, Jie;
Zhang, Ming-Zhu;
Ni, Jiang;
Wang, Tao;
Zhao, Yi-Qing;
Khan, Naveed Ullah

Publication type:

Article

A blood RNA transcriptome signature for COVID-19.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01006-w

By:

Kwan, Philip Kam Weng;
Cross, Gail B.;
Naftalin, Claire M.;
Ahidjo, Bintou A.;
Mok, Chee Keng;
Fanusi, Felic;
Permata Sari, Intan;
Chia, Siok Ching;
Kumar, Shoban Krishna;
Alagha, Rawan;
Tham, Sai Meng;
Archuleta, Sophia;
Sessions, October M.;
Hibberd, Martin L.;
Paton, Nicholas I.

Publication type:

Article

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01008-8

By:

Li, Qiang;
Wang, Yiting;
Pan, Yijun;
Wang, Jia;
Yu, Weishi;
Wang, Xiaodong

Publication type:

Article

Identification of macrophage related gene in colorectal cancer patients and their functional roles.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01010-0

By:

Chen, Yingxiang;
Zhang, Cui;
Zou, Xiang;
Yu, Miao;
Yang, Bo;
Ji, Chen-Feng;
Gao, Shi-Yong;
Li, Jun;
Liu, Bin

Publication type:

Article

Novel combined variants of WT1 and TET2 in a refractory and recurrent AML patient.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01002-0

By:

Ma, Qiang;
Guo, Yixian;
Lan, Xiaoxi;
Wang, Guoxiang;
Sun, Wanling

Publication type:

Article

Genome-wide analysis of retinal transcriptome reveals common genetic network underlying perception of contrast and optical defocus detection.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01005-x

By:

Tkatchenko, Tatiana V.;
Tkatchenko, Andrei V.

Publication type:

Article

Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00998-9

By:

Peng, Gang;
Chai, Hongyan;
Ji, Weizhen;
Lu, Yufei;
Wu, Shengming;
Zhao, Hongyu;
Li, Peining;
Hu, Qiping

Publication type:

Article

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00993-0

By:

Sabir, Ataf H.;
Morley, Elizabeth;
Sheikh, Jameela;
Calder, Alistair D.;
Beleza-Meireles, Ana;
Cheung, Moira S.;
Cocca, Alessandra;
Jansson, Mattias;
Lillis, Suzanne;
Patel, Yogen;
Shu Yau;
Hall, Christine M.;
Offiah, Amaka C.;
Irving, Melita

Publication type:

Article

Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00999-8

By:

Mosley, Trenell J.;
Johnston, H. Richard;
Cutler, David J.;
Zwick, Michael E.;
Mulle, Jennifer G.

Publication type:

Article

Deregulation of lncRNA HIST1H2AG-6 and AIM1-3 in peripheral blood mononuclear cells is associated with newly diagnosed type 2 diabetes.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00994-z

By:

Hui Jiang;
Peian Lou;
Xiaoluo Chen;
Chenguang Wu;
Shihe Shao

Publication type:

Article

A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00995-y

By:

Zhang, Zeng;
Zhu, Kechao;
Dai, Huiyong;
Wang, Qi;
Zhang, Changqing;
Zhang, Zhenlin

Publication type:

Article

Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00996-x

By:

Murad, Hossam;
Alhalabi, Mohamad Baseel;
Dabboul, Amir;
Alfakseh, Nour;
Nweder, Mohamad Sayah;
Zghib, Youssef;
Wannous, Hala

Publication type:

Article

Identification of potential therapeutic targets for atherosclerosis by analysing the gene signature related to different immune cells and immune regulators in atheromatous plaques.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00991-2

By:

Shen, Yang;
Xu, Li-rong;
Tang, Xiao;
Lin, Chang-po;
Yan, Dong;
Xue, Song;
Qian, Rui-zhe;
Guo, Da-qiao

Publication type:

Article

Molecular epidemiology of SARS-CoV-2 isolated from COVID-19 family clusters.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00990-3

By:

Gunadi;
Wibawa, Hendra;
Hakim, Mohamad Saifudin;
Marcellus;
Trisnawati, Ika;
Khair, Riat El;
Triasih, Rina;
Irene;
Afiahayati;
Iskandar, Kristy;
Siswanto;
Anggorowati, Nungki;
Daniwijaya, Edwin Widyanto;
Supriyati, Endah;
Nugrahaningsih, Dwi Aris Agung;
Budiono, Eko;
Retnowulan, Heni;
Puspadewi, Yunika;
Puspitawati, Ira;
Sianipar, Osman

Publication type:

Article

Correction to: The association between variants in PLA2R and HLA-DQA1 and renal outcomes in patients with primary membranous nephropathy in Western China.

Published in:

2021

By:

Fan, Shulei;
Wang, Qiuxia;
Wang, Amanda Y.;
Zhang, Ping;
Zhong, Xiang;
Chen, Shasha;
Li, Guisen;
Wang, Li;
Wang, Wei

Publication type:

Correction Notice

Exonic variants undergoing allele-specific selection in cancers.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00984-1

By:

Li, Qiyuan;
Zeng, Yuanyuan;
Wang, Janet;
Fang, Hongkun;
Guo, Jintao;
Yu, Liying;
Zhong, Taoling;
Xu, Chaoqun;
Freedman, Matthew;
LaFramboise, Thomas

Publication type:

Article

The association between variants in PLA2R and HLA-DQA1 and renal outcomes in patients with primary membranous nephropathy in Western China.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00969-0

By:

Fan, Shulei;
Wang, Qiuxia;
Wang, Amanda Y.;
Zhang, Ping;
Zhong, Xiang;
Chen, Shasha;
Li, Guisen;
Wang, Li;
Wang, Wei

Publication type:

Article

Identification of key genes in calcific aortic valve disease via weighted gene co-expression network analysis.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00989-w

By:

Sun, Jin-Yu;
Hua, Yang;
Shen, Hui;
Qu, Qiang;
Kan, Jun-Yan;
Kong, Xiang-Qing;
Sun, Wei;
Shen, Yue-Yun

Publication type:

Article

The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00981-4

By:

Jiang, Xin;
Chen, Dong

Publication type:

Article

In-vivo design feedback and perceived utility of a genetically-informed smoking risk tool among current smokers in the community.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00976-1

By:

Bourdon, Jessica L.;
Dorsey, Amelia;
Zalik, Maia;
Pietka, Amanda;
Salyer, Patricia;
Bray, Michael J.;
Bierut, Laura J.;
Ramsey, Alex T.

Publication type:

Article

Genomic trajectory in leukemogenesis of myeloproliferative neoplasms: a case report.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00986-z

By:

Chen, Yujie;
Talukder, Rafee;
Merritt, Brian Y.;
King, Katherine Y.;
Kimmel, Marek;
Rivero, Gustavo;
Sosa, Romina

Publication type:

Article

Association between MTNR1B polymorphisms and obesity in African American: findings from the Jackson Heart Study.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00983-2

By:

Tchio, Cynthia;
Musani, Solomon K.;
Quarshie, Alexander;
Tosini, Gianluca

Publication type:

Article

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00987-y

By:

Arias-Pérez, Ruben D.;
Gallego-Quintero, Salomón;
Taborda, Natalia A.;
Restrepo, Jorge E.;
Zambrano-Cruz, Renato;
Tamayo-Agudelo, William;
Bermúdez, Patricia;
Duque, Constanza;
Arroyave, Ismael;
Tejada-Moreno, Johanna A.;
Villegas-Lanau, Andrés;
Mejía-García, Alejandro;
Zapata, Wildeman;
Hernandez, Juan C.;
Cuartas-Montoya, Gina

Publication type:

Article

A novel deletion mutation in the LPA gene in a middle-aged woman with ischaemic stroke.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00982-3

By:

Li, Youran;
Wang, Yizhong;
Gong, Fan;
Yu, Xiaofei;
Zhang, Ting

Publication type:

Article

Extremes of age are associated with differences in the expression of selected pattern recognition receptor genes and ACE2, the receptor for SARS-CoV-2: implications for the epidemiology of COVID-19 disease.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00970-7

By:

Bickler, Stephen W.;
Cauvi, David M.;
Fisch, Kathleen M.;
Prieto, James M.;
Sykes, Alicia G.;
Thangarajah, Hariharan;
Lazar, David A.;
Ignacio, Romeo C.;
Gerstmann, Dale R.;
Ryan, Allen F.;
Bickler, Philip E.;
De Maio, Antonio

Publication type:

Article

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00980-5

By:

Winkler, Izabela;
Miotła, Paweł;
Lejman, Monika;
Pietrzyk, Aleksandra;
Kacprzak, Magdalena;
Kubiak, Marcin;
Sobczyńska-Tomaszewska, Agnieszka;
Skrzypczak, Maciej;
Jaszczuk, Ilona

Publication type:

Article

Signature RNAS and related regulatory roles in type 1 diabetes mellitus based on competing endogenous RNA regulatory network analysis.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00931-0

By:

Shi, Qinghong;
Yao, Hanxin

Publication type:

Article

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00979-y

By:

Fu, Weijia;
Huang, Aijie;
Cheng, Hui;
Luo, Yanrong;
Gao, Lei;
Tang, Gusheng;
Yang, Jianmin;
Wang, Jianmin;
Ni, Xiong

Publication type:

Article

Genome-wide copy number variations in a large cohort of bantu African children.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00978-z

By:

Yilmaz, Feyza;
Null, Megan;
Astling, David;
Yu, Hung-Chun;
Cole, Joanne;
Santorico, Stephanie A.;
Hallgrimsson, Benedikt;
Manyama, Mange;
Spritz, Richard A.;
Hendricks, Audrey E.;
Shaikh, Tamim H.

Publication type:

Article

In silico analysis suggests disruption of interactions between HAMP from hepatocytes and SLC40A1 from macrophages in hepatocellular carcinoma.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00977-0

By:

Hu, Liang;
Wu, Chao

Publication type:

Article

EARN: an ensemble machine learning algorithm to predict driver genes in metastatic breast cancer.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00974-3

By:

Mirsadeghi, Leila;
Haji Hosseini, Reza;
Banaei-Moghaddam, Ali Mohammad;
Kavousi, Kaveh

Publication type:

Article

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00896-0

By:

He, Wen-Tao;
Wang, Xiong;
Song, Wen;
Song, Xiao-Dong;
Lu, Yan-Jun;
Lv, Yan-Kai;
He, Ting;
Yu, Xue-Feng;
Hu, Shu-Hong

Publication type:

Article

DIA proteomics analysis through serum profiles reveals the significant proteins as candidate biomarkers in women with PCOS.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00962-7

By:

Yu, Ying;
Tan, Panli;
Zhuang, Zhenchao;
Wang, Zhejiong;
Zhu, Linchao;
Qiu, Ruyi;
Xu, Huaxi

Publication type:

Article

A five metastasis-related long noncoding RNA risk signature for osteosarcoma survival prediction.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00972-5

By:

Yu, SiYuan;
Shao, FengLing;
Liu, HuiJun;
Liu, QingQing

Publication type:

Article

The association between variants in PLA2R and HLA-DQA1 and renal outcomes in patients with primary membranous nephropathy in Western China.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00969-0

By:

Fan, Shulei;
Wang, Qiuxia;
Wang, Amanda Y.;
Zhang, Ping;
Zhong, Xiang;
Chen, Shasha;
Li, Guisen;
Wang, Li;
Wang, Wei

Publication type:

Article

Identification and validation of signal recognition particle 14 as a prognostic biomarker predicting overall survival in patients with acute myeloid leukemia.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00975-2

By:

Shi, Lingling;
Huang, Rui;
Lai, Yongrong

Publication type:

Article

Prognostic value of SH3PXD2B (Tks4) in human hepatocellular carcinoma: a combined multi-omics and experimental study.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00963-6

By:

Kui, Xiang;
Wang, Yan;
Zhang, Cheng;
Li, Hai;
Li, Qingfeng;
Ke, Yang;
Wang, Lin

Publication type:

Article

Broadening our understanding of genetic risk for scleroderma/systemic sclerosis by querying the chromatin architecture surrounding the risk haplotypes.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00964-5

By:

Poppenberg, Kerry E.;
Tutino, Vincent M.;
Tarbell, Evan;
Jarvis, James N.

Publication type:

Article

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00959-2

By:

El Kadiri, Youssef;
Ratbi, Ilham;
Laarabi, Fatima Zahra;
Kriouile, Yamna;
Sefiani, Abdelaziz;
Lyahyai, Jaber

Publication type:

Article