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

Results: 292

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Published in:

2021

By:

Bae, Soyoung;
Yang, Aram;
Kim, Jinsup;
Lee, Hyun Ju;
Park, Hyun Kyung

Publication type:

Case Study

Secondary myelodysplastic syndromes identified via next-generation sequencing in a non-small cell lung cancer patient.

Published in:

2021

By:

Feng, Yongzhi;
Chen, Xialin;
Jiang, Keran;
Zhang, Ding;
Tao, Feng;
Ni, Dan;
Zhang, Jun;
Wu, Lixin;
Cai, Jinping;
Jiang, Libin;
Yu, GenHua;
Shi, Lin

Publication type:

Case Study

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.

Published in:

2021

By:

Nzelu, Diane;
Shangaris, Panicos;
Story, Lisa;
Smith, Frances;
Piyasena, Chinthika;
Alamelu, Jayanthi;
Elmakky, Amira;
Pelidis, Maria;
Mayhew, Rachel;
Sankaran, Srividhya

Publication type:

Case Study

Clinical feature-related single-base substitution sequence signatures identified with an unsupervised machine learning approach.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01144-1

By:

Ji, Hongchen;
Li, Junjie;
Zhang, Qiong;
Yang, Jingyue;
Duan, Juanli;
Wang, Xiaowen;
Ma, Ben;
Zhang, Zhuochao;
Pan, Wei;
Zhang, Hongmei

Publication type:

Article

Integrative multi-omics identifies high risk multiple myeloma subgroup associated with significant DNA loss and dysregulated DNA repair and cell cycle pathways.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01140-5

By:

Ortiz-Estévez, María;
Towfic, Fadi;
Flynt, Erin;
Stong, Nicholas;
Jang, In Sock;
Wang, Kai;
Trotter, Matthew W. B.;
Thakurta, Anjan

Publication type:

Article

Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01141-4

By:

Peng, Dai;
Ganye, Zhao;
Gege, Sun;
Yanjie, Xia;
Ning, Liu;
Xiangdong, Kong

Publication type:

Article

Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Published in:

2021

By:

Chkioua, Latifa;
Amri, Yessine;
Chaima, Sahli;
Fenni, Ferdawes;
Boudabous, Hela;
Ben Turkia, Hadhami;
Messaoud, Taieb;
Tebib, Neji;
Laradi, Sandrine

Publication type:

Correction Notice

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01061-3

By:

Chkioua, Latifa;
Amri, Yessine;
Chaima, Sahli;
Fenni, Ferdawes;
Boudabous, Hela;
Ben Turkia, Hadhami;
Messaoud, Taieb;
Tebib, Neji;
Laradi, Sandrine

Publication type:

Article

Transcriptome sequencing reveals a lncRNA–mRNA interaction network in extramammary Paget's disease.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01135-2

By:

Zheng, Da-chao;
Shen, Yan-ting;
Wei, Zi-wei;
Wan, Xiang;
Xie, Min-kai;
Yao, Hai-jun;
Wang, Zhong

Publication type:

Article

Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01131-6

By:

Wang, Chaohong;
Tang, Junxiang;
Tong, Keting;
Huang, Daoqi;
Tu, Huayu;
Li, Qingnan;
Zhu, Jiansheng

Publication type:

Article

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01139-y

By:

Kitayama, Kana;
Ishiguro, Tomoya;
Komiyama, Masaki;
Morisaki, Takayuki;
Morisaki, Hiroko;
Minase, Gaku;
Hamanaka, Kohei;
Miyatake, Satoko;
Matsumoto, Naomichi;
Kato, Masaru;
Takahashi, Toru;
Yorifuji, Tohru

Publication type:

Article

Modular signature of long non-coding RNA association networks as a prognostic biomarker in lung cancer.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01137-0

By:

Li, Albert;
Yu, Wen-Hsuan;
Hsu, Chia-Lang;
Huang, Hsuan-Cheng;
Juan, Hsueh-Fen

Publication type:

Article

Gene biomarker prediction in glioma by integrating scRNA-seq data and gene regulatory network.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01115-6

By:

Qin, Guimin;
Du, Longting;
Ma, Yuying;
Yin, Yu;
Wang, Liming

Publication type:

Article

Identification of the ferroptosis-related long non-coding RNAs signature to improve the prognosis prediction and immunotherapy response in patients with NSCLC.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01133-4

By:

Li, Meng;
Zhang, Yanpeng;
Fan, Meng;
Ren, Hui;
Chen, Mingwei;
Shi, Puyu

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:

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

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;
Yau, Shu;
Hall, Christine M.;
Offiah, Amaka C.;
Irving, Melita

Publication type:

Article

Minimum redundancy maximal relevance gene selection of apoptosis pathway genes in peripheral blood mononuclear cells of HIV-infected patients with antiretroviral therapy-associated mitochondrial toxicity.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01136-1

By:

Bose, Eliezer;
Paintsil, Elijah;
Ghebremichael, Musie

Publication type:

Article

Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01126-3

By:

McGuire Sams, Cierla;
Shepp, Kasey;
Pugh, Jada;
Bishop, Madison R.;
Merner, Nancy D.

Publication type:

Article

Comprehensive analysis of miRNA–mRNA regulatory network and potential drugs in chronic chagasic cardiomyopathy across human and mouse.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01134-3

By:

Wu, Jiahe;
Cao, Jianlei;
Fan, Yongzhen;
Li, Chenze;
Hu, Xiaorong

Publication type:

Article

The circular RNA hsa_circ_000780 as a potential molecular diagnostic target for gastric cancer.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01096-6

By:

Song, Jian;
Yu, Shuyong;
Zhong, Dunjing;
Yang, Weizhong;
Jia, Zhen;
Yuan, Guihong;
Li, Ping;
Zhang, Ronglin;
Li, Yini;
Zhong, Guobing;
Chen, Zhaowei

Publication type:

Article

Are we there yet? A machine learning architecture to predict organotropic metastases.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01122-7

By:

Skaro, Michael;
Hill, Marcus;
Zhou, Yi;
Quinn, Shannon;
Davis, Melissa B.;
Sboner, Andrea;
Murph, Mandi;
Arnold, Jonathan

Publication type:

Article

Mutational signatures among young-onset testicular cancers.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01121-8

By:

Mealey, Nicole E.;
O'Sullivan, Dylan E.;
Peters, Cheryl E.;
Heng, Daniel Y. C.;
Brenner, Darren R.

Publication type:

Article

Emergence of a novel recombinant of CV-A5 in HFMD epidemics in Xiangyang, China.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01107-6

By:

Yu, Yuting;
Luo, Zhiyu;
Jin, Weiping;
Mai, Jianyi;
Qian, Shasha;
Lu, Jia;
Wei, Zhenni;
Meng, Shengli;
Wang, Zejun;
Guan, Xuhua;
Tong, Yeqing;
Shen, Shuo

Publication type:

Article

Transcriptome sequencing identified the ceRNA network associated with recurrent spontaneous abortion.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01125-4

By:

Huang, Yong;
Hao, Jiayuan;
Liao, Yuan;
Zhou, Lihua;
Wang, Kaiju;
Zou, Hui;
Hu, Ying;
Li, Juan

Publication type:

Article

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01130-7

By:

Wang, Rui;
Wang, Wei-Qian;
Li, Xiao-Qin;
Zhao, Juan;
Yang, Kun;
Feng, Yong;
Guo, Meng-Meng;
Liu, Min;
Liu, Xing;
Wang, Xi;
Yuan, Yong-Yi;
Gao, Xue;
Xu, Jin-Cao

Publication type:

Article

Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01128-1

By:

Zhao, Ganye;
Wang, Xiaofeng;
Liu, Lina;
Dai, Peng;
Kong, Xiangdong

Publication type:

Article

Association of single nucleotide polymorphisms with insulin secretion, insulin sensitivity, and diabetes in women with a history of gestational diabetes mellitus.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01123-6

By:

Prasad, Rashmi B.;
Kristensen, Karl;
Katsarou, Anastasia;
Shaat, Nael

Publication type:

Article

Involvement of immune system and Epithelial–Mesenchymal-Transition in increased invasiveness of clustered circulatory tumor cells in breast cancer.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01112-9

By:

Khoshbakht, Samane;
Azimzadeh Jamalkandi, Sadegh;
Masudi-Nejad, Ali

Publication type:

Article

Hub microRNAs and genes in the development of atrial fibrillation identified by weighted gene co-expression network analysis.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01124-5

By:

Qu, Qiang;
Sun, Jin-Yu;
Zhang, Zhen-Ye;
Su, Yue;
Li, Shan-Shan;
Li, Feng;
Wang, Ru-Xing

Publication type:

Article

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01119-2

By:

Lu, Guanting;
Peng, Qiongling;
Wu, Lianying;
Zhang, Jian;
Ma, Liya

Publication type:

Article

Estimating causal effects of atherogenic lipid-related traits on COVID-19 susceptibility and severity using a two-sample Mendelian randomization approach.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01127-2

By:

Yoshikawa, Masahiro;
Asaba, Kensuke;
Nakayama, Tomohiro

Publication type:

Article

Analysis of genetic variation in human papillomavirus type 16 E1 and E2 in women with cervical infection in Xinjiang, China.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01120-9

By:

Wang, Luyue;
Wang, Fang;
Fu, Shaowei;
Zhang, Chunhe;
Zhe, Xiangyi;
Li, Hongtao;
Li, Dongmei;
Shao, Renfu;
Pan, Zemin

Publication type:

Article

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01116-5

By:

Ullah, Ihsan;
Ottlewski, Isabel;
Shehzad, Wasim;
Riaz, Amjad;
Ijaz, Sadaqat;
Tufail, Asad;
Ammara, Hafiza;
Mane, Shrikant;
Shril, Shirlee;
Hildebrandt, Friedhelm;
Zahoor, Muhammad Yasir;
Majmundar, Amar J.

Publication type:

Article

PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms affect therapeutic efficacy of nateglinide in Chinese patients with type 2 diabetes mellitus.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01108-5

By:

Wang, Tao;
Song, Jin-Fang;
Zhou, Xue-Yan;
Li, Cheng-Lin;
Yin, Xiao-Xing;
Lu, Qian

Publication type:

Article

Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01117-4

By:

Liu, Chunyu;
Ajmal, Muhammad;
Akram, Zaineb;
Ghafoor, Tariq;
Farhan, Muhammad;
Shafique, Sobia;
Wahid, Sughra;
Bano, Shahar;
Xiao, Jianqiu;
Satti, Humayoon Shafique;
Zhang, Feng;
Khan, Tahir Naeem

Publication type:

Article

The interactions between dietary fats intake and Caveolin 1 rs 3807992 polymorphism with fat distribution in overweight and obese women: a cross-sectional study.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01114-7

By:

Aali, Yasaman;
Shiraseb, Farideh;
Abaj, Faezeh;
koohdani, Fariba;
Mirzaei, Khadijeh

Publication type:

Article

Molecular genetic analysis and growth hormone response in patients with syndromic short stature.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01113-8

By:

Sun, Huihui;
Li, Na;
Wan, Naijun

Publication type:

Article

Frequency of allele variations in the CFTR gene in a Mexican population.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01111-w

By:

Cantú-Reyna, Consuelo;
Galindo-Ramírez, Roberto;
Vázquez-Cantú, Mercedes;
Haddad-Talancón, Lorenza;
García-Muñoz, Willebaldo

Publication type:

Article

BDdb: a comprehensive platform for exploration and utilization of birth defect multi-omics data.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01110-x

By:

Zhang, Dengwei;
Zhou, Si;
Zhou, Ziheng;
Jiang, Xiaosen;
Chen, Dongsheng;
Sun, Hai-Xi;
Huang, Jie;
Qu, Shoufang;
Yang, Songchen;
Gu, Ying;
Zhang, Xiuqing;
Jin, Xin;
Gao, Ya;
Shen, Yue;
Chen, Fang

Publication type:

Article

Stratification of lncRNA modulation networks in breast cancer.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-022-01236-6

By:

Yu, Wen-Hsuan;
Hsu, Chia-Lang;
Lin, Chen-Ching;
Oyang, Yen-Jen;
Juan, Hsueh-Fen;
Huang, Hsuan-Cheng

Publication type:

Article

A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01109-4

By:

Li, Yue;
Wang, Yumeng;
Ming, Yan;
Chaolan, Pan;
Jia, Zhang;
Cheng, Ni;
Qiaoyu, Cao;
Li, Ming;
Tianyi, Xu

Publication type:

Article

Analysis of multiple gene co-expression networks to discover interactions favoring CFTR biogenesis and ΔF508-CFTR rescue.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01106-7

By:

Strub, Matthew D.;
Gao, Long;
Tan, Kai;
McCray Jr., Paul B.

Publication type:

Article

CTNNA3 genetic polymorphism may be a new genetic signal of type 2 diabetes in the Chinese Han population: a case control study.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01105-8

By:

Zhang, Yunjun;
Zhou, Xiaoman;
Dai, Wanjuan;
Sun, Juan;
Lin, Mei;
Zhang, Yutian;
Ding, Yipeng

Publication type:

Article

A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01103-w

By:

Li, Kaiming;
Tang, Min;
Xu, Manhua;
Yu, Yinggui

Publication type:

Article

High expression levels and the C3435T SNP of the ABCB1 gene are associated with lower survival in adult patients with acute myeloblastic leukemia in Mexico City.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01101-y

By:

Olarte Carrillo, Irma;
García Laguna, Anel Irais;
De la Cruz Rosas, Adrián;
Ramos Peñafiel, Christian Omar;
Collazo Jaloma, Juan;
Martínez Tovar, Adolfo

Publication type:

Article

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01098-4

By:

Zhang, Weifeng;
Liu, Zhiyong;
Lin, Yiming;
Wang, Ruiquan;
Xu, Jinglin;
He, Ying;
Zhang, Fengfeng;
Wu, Lianqiang;
Chen, Dongmei

Publication type:

Article

PDX1 and MC4R genetic polymorphisms are associated with type 2 diabetes mellitus risk in the Chinese Han population.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01037-3

By:

Wang, Ning;
Tong, Rui;
Xu, Jing;
Tian, Yanni;
Pan, Juan;
Cui, Jiaqi;
Chen, Huan;
Peng, Yanqi;
Fei, Sijia;
Yang, Shujun;
Wang, Lu;
Yao, Juanchuan;
Cui, Wei

Publication type:

Article

High expression levels and the C3435T SNP of the ABCB1 gene are associated with lower survival in adult patients with acute myeloblastic leukemia in Mexico City.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01101-y

By:

Olarte Carrillo, Irma;
García Laguna, Anel Irais;
De la Cruz Rosas, Adrián;
Ramos Peñafiel, Christian Omar;
Collazo Jaloma, Juan;
Martínez Tovar, Adolfo

Publication type:

Article

Genetics and prescription opioid use (GaPO): study design for consenting a cohort from an existing biobank to identify clinical and genetic factors influencing prescription opioid use and abuse.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01100-z

By:

Troiani, Vanessa;
Crist, Richard C.;
Doyle, Glenn A.;
Ferraro, Thomas N.;
Beiler, Donielle;
Ranck, Stephanie;
McBryan, Kortney;
Jarvis, Margaret A.;
Barbour, Jordan S.;
Han, John J.;
Ness, Ryan J.;
Berrettini, Wade H.;
Robishaw, Janet D.

Publication type:

Article

An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.

Published in:

2021

By:

Li, Pengzhu;
Jiang, Jie;
Xi, Qiong;
Yang, Zuocheng

Publication type:

Case Study