Works matching IS 17558794 AND DT 2022 AND VI 15 AND IP 1

Results: 275

Identification of biomarkers related to neutrophils and two molecular subtypes of systemic lupus erythematosus.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01306-9

By:

Li, Huiyan;
Yang, Pingting

Publication type:

Article

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01305-w

By:

Cao, Yixuan;
You, Yi;
Wang, Qiong;
Ren, Xiuzhi;
Li, Shan;
Li, Lulu;
Xia, Weibo;
Guan, Xin;
Yang, Tao;
Ikegawa, Shiro;
Wang, Zheng;
Zhao, Xiuli

Publication type:

Article

LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01304-x

By:

Farncombe, Kirsten M.;
Thain, Emily;
Barnett-Tapia, Carolina;
Sadeghian, Hamid;
Kim, Raymond H.

Publication type:

Article

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.

Published in:

2022

By:

Hua, Yi;
Cui, Di;
Han, Lin;
Xu, Lu;
Mao, Shanshan;
Yang, Cuiwei;
Gao, Feng;
Yuan, Zhefeng

Publication type:

Case Study

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01296-8

By:

Chen, Jing;
Xiang, Qinqin;
Xiao, Xiao;
Xu, Bocheng;
Xie, Hanbing;
Wang, He;
Yang, Mei;
Liu, Shanling

Publication type:

Article

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01315-8

By:

Li, Qiong;
Wang, Shujuan;
Liang, Pengfei;
Li, Wei;
Wang, Jian;
Fan, Bei;
Yang, Yang;
An, Xiaogang;
Chen, Jun;
Zha, Dingjun

Publication type:

Article

Identifying the role of transient receptor potential channels (TRPs) in kidney renal clear cell carcinoma and their potential therapeutic significances using genomic and transcriptome analyses.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01312-x

By:

Ren, Jie;
Yuan, Qihang;
Liu, Jifeng;
Zhong, Lei;
Li, Hanshuo;
Wu, Guangzhen;
Chen, Feng;
Tang, Qizhen

Publication type:

Article

Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01307-8

By:

Huang, Xiaoli;
Cheng, Yimin;
Wang, Na

Publication type:

Article

Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01301-0

By:

Ma, Xinyue;
Wang, Zhao;
Zhang, Changming;
Bian, Yuehong;
Zhang, Xin;
Liu, Xin;
Cao, Yongzhi;
Zhao, Yueran

Publication type:

Article

Correction: Transcriptome profiling analysis reveals that CXCL2 is involved in anlotinib resistance in human lung cancer cells.

Published in:

2022

By:

Lu, Jun;
Xu, Wei;
Qian, Jie;
Wang, Shuyuan;
Zhang, Bo;
Zhang, Lele;
Qiao, Rong;
Hu, Minjuan;
Zhao, Yiming;
Zhao, Xiaodong;
Han, Baohui

Publication type:

Correction Notice

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01311-y

By:

Miao, Mingzhu;
Lu, Shoulian;
Sun, Xiao;
Zhao, Meng;
Wang, Jue;
Su, Xiaotan;
Jin, Bai;
Sun, Lizhou

Publication type:

Article

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01271-3

By:

He, Xiaohui;
Zhao, Shaozhi;
Shi, Lin;
Lu, Yitong;
Yang, Yintong;
Zhang, Xinwen

Publication type:

Article

Identifying intragenic functional modules of genomic variations associated with cancer phenotypes by learning representation of association networks.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01298-6

By:

Kim, Minsu;
Huffman, Jennifer E.;
Justice, Amy;
Goethert, Ian;
Agasthya, Greeshma;
VA Million Veteran Program;
Sun, Yan;
McArdle, Rachel;
Dellitalia, Louis;
Stephens, Brady;
Cho, Kelly;
Pyarajan, Saiju;
Mattocks, Kristin;
Harley, John;
Whittle, Jeffrey;
Mathew, Roy;
Beckham, Jean;
Smith, River;
Wells., John;
Gutierrez, Salvador

Publication type:

Article

Identification of genes and key pathways underlying the pathophysiological association between nonalcoholic fatty liver disease and atrial fibrillation.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01300-1

By:

Chu, Yanan;
Yu, Fangcong;
Wu, Yakui;
Yang, Jinxiu;
Shi, Jiaran;
Ye, Tianxin;
Han, Deheng;
Wang, Xingxiang

Publication type:

Article

Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01303-y

By:

Gong, Xue;
He, Yunru;
Lu, Guoyan;
Zhang, Yulin;
Qiu, Yu;
Qiao, Lina;
Li, Yifei

Publication type:

Article

Construction and validation of a prognostic risk model for breast cancer based on protein expression.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01299-5

By:

Huang, Bo;
Zhang, Xujun;
Cao, Qingyi;
Chen, Jianing;
Lin, Chenhong;
Xiang, Tianxin;
Zeng, Ping

Publication type:

Article

APEX1 regulates alternative splicing of key tumorigenesis genes in non-small-cell lung cancer.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01290-0

By:

Peng, Li;
Liu, Yuwei;
Chen, Jing;
Cheng, Mengxin;
Wu, Ying;
Chen, Min;
Zhong, Ya;
Shen, Dan;
Chen, Ling;
Ye, Xujun

Publication type:

Article

Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01297-7

By:

Huang, Qingfeng;
Zhou, Yang;
Wang, Bowen;
Zhao, Yi;
Zhang, Fengxia;
Ding, Bowen

Publication type:

Article

Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01293-x

By:

Xiang, Jiale;
Jin, Yuan;
Song, Nana;
Chen, Sen;
Shen, Jiankun;
Xie, Wen;
Sun, Xiangzhong;
Peng, Zhiyu;
Sun, Yu

Publication type:

Article

Effects and associated transcriptomic landscape changes of methamphetamine on immune cells.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01295-9

By:

Kong, Deshenyue;
Mao, Jun-Hong;
Li, Hong;
Wang, Jian-Yu;
Li, Yu-Yang;
Wu, Xiao-Cong;
Re, Guo-Fen;
Luo, Hua-You;
Kuang, Yi-Qun;
Wang, Kun-Hua

Publication type:

Article

Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01294-w

By:

dos Santos, Wellington;
dos Reis, Mariana Bisarro;
Porto, Jun;
de Carvalho, Ana Carolina;
Matsushita, Marcus;
Oliveira, Gabriela;
Syrjänen, Kari;
Reis, Rui Manuel;
Guimarães, Denise Peixoto

Publication type:

Article

Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01288-8

By:

Huang, Yuhua;
Tian, Ruhui;
Xu, Junwei;
Ji, Zhiyong;
Zhang, Yuxiang;
Zhao, Liangyu;
Yang, Chao;
Li, Peng;
Zhi, Erlei;
Bai, Haowei;
Han, Sha;
Luo, Jiaqiang;
Zhao, Jingpeng;
Zhang, Jing;
Zhou, Zhi;
Li, Zheng;
Yao, Chencheng

Publication type:

Article

First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.

Published in:

2022

By:

Wang, Yao;
Yu, Dong;
Wei, Wei;
Zheng, Hao;
Liu, Ming-Hua;
Ma, Long;
Qin, Li-Na;
Wang, Neng-Zhuang;
Li, Jia-Xi;
Wang, Jin-Jiang;
Bi, Xin-Ling;
Yan, Hong-Li

Publication type:

Case Study

Identification of hub genes and regulatory networks in histologically unstable carotid atherosclerotic plaque by bioinformatics analysis.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01257-1

By:

Guo, Julong;
Ning, Yachan;
Su, Zhixiang;
Guo, Lianrui;
Gu, Yongquan

Publication type:

Article

A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01286-w

By:

Iwasawa, Tomohiro;
Kosaka, Takeo;
Morita, Shinya;
Mikami, Shuji;
Nakamura, Kohei;
Hongo, Hiroshi;
Nishihara, Hiroshi;
Oya, Mototsugu

Publication type:

Article

Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.

Published in:

2022

By:

Contreras-Cubas, Cecilia;
Barajas-Olmos, Francisco;
Frayre-Martínez, Maria Inés;
Siordia-Reyes, Georgina;
Guízar-Sánchez, Claudia C.;
García-Ortiz, Humberto;
Orozco, Lorena;
Baca, Vicente

Publication type:

Case Study

FTO rs62033406 A>G associated with the risk of osteonecrosis of the femoral head among the Chinese Han population.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01283-z

By:

Wang, Yuan;
Zhong, Wei;
Wang, Shaofeng;
Yang, Yang;
Zhu, Bing

Publication type:

Article

A lung adenocarcinoma patient with co-mutations of MET and EGFR exon20 insertion responded to crizotinib.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01291-z

By:

Chen, Yan;
Jiang, Bo;
He, Yuange;
Zhang, Chu;
Zhou, Wenjie;
Fang, Cheng;
Gu, Dejian;
Zhang, Minxia;
Ji, Mei;
Shi, Juntao;
Yang, Xin

Publication type:

Article

mRNA and long non-coding RNA expression profiles of rotator cuff tear patients reveal inflammatory features in long head of biceps tendon.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01292-y

By:

Ren, Yi-Ming;
Duan, Yuan-Hui;
Sun, Yun-Bo;
Yang, Tao;
Hou, Wei-Yu;
Liu, Chang;
Tian, Meng-Qiang

Publication type:

Article

Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01287-9

By:

Rayat, Sima;
Farhadi, Mohammad;
Emamdjomeh, Hessamaldin;
Morovvati, Saeid;
Falah, Masoumeh

Publication type:

Article

HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC).

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01264-2

By:

Wang, Wenhui;
Chen, Yan;
Wu, Liang;
Zhang, Yi;
Yoo, Seungyeul;
Chen, Quan;
Liu, Shiping;
Hou, Yong;
Chen, Xiao-ping;
Chen, Qian;
Zhu, Jun

Publication type:

Article

Correction: Genomic profiling of sporadic multiple meningiomas.

Published in:

2022

By:

Erson-Omay, E. Zeynep;
Vetsa, Shaurey;
Vasandani, Sagar;
Barak, Tanyeri;
Nadar, Arushii;
Marianayagam, Neelan J.;
Yalcin, Kanat;
Miyagishima, Danielle;
Aguilera, Stephanie Marie;
Robert, Stephanie;
Mishra-Gorur, Ketu;
Fulbright, Robert K.;
McGuone, Declan;
Günel, Murat;
Moliterno, Jennifer

Publication type:

Correction Notice

Genomic profiling of sporadic multiple meningiomas.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01258-0

By:

Erson-Omay, E. Zeynep;
Vetsa, Shaurey;
Vasandani, Sagar;
Barak, Tanyeri;
Nadar, Arushii;
Marianayagam, Neelan J.;
Yalcin, Kanat;
Miyagishima, Danielle;
Aguilera, Stephanie Marie;
Robert, Stephanie;
Mishra-Gorur, Ketu;
Fulbright, Robert K.;
McGuone, Declan;
Günel, Murat;
Moliterno, Jennifer

Publication type:

Article

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01289-7

By:

Du, Qiang;
Sun, Qin;
Gu, Xiaodong;
Wang, Jinchao;
Li, Weitao;
Guo, Luo;
Li, Huawei

Publication type:

Article

Transcriptomic analysis reveals pathophysiological relationship between chronic obstructive pulmonary disease (COPD) and periodontitis.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01278-w

By:

Liu, Shuqin;
Fu, Yun;
Ziebolz, Dirk;
Li, Simin;
Schmalz, Gerhard;
Li, Fan

Publication type:

Article

BidSi6 and BidEL isoforms as a potential marker for predicting colorectal adenomatous polyps.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01282-0

By:

Forouzesh, Flora;
Kia, Fatemeh Sadat;
Nazemalhosseini-Mojarad, Ehsan

Publication type:

Article

Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01277-x

By:

Yébenes Mayordomo, Marcos;
Al Shboul, Sofian;
Gómez-Herranz, Maria;
Azfer, Asim;
Meynert, Alison;
Salter, Donald;
Hayward, Larry;
Oniscu, Anca;
Patton, James T.;
Hupp, Ted;
Arends, Mark J.;
Alfaro, Javier Antonio

Publication type:

Article

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01275-z

By:

Wu, Sixian;
Jiang, Chuan;
Li, Jiaman;
Zhang, Guohui;
Shen, Ying;
Wang, Jing

Publication type:

Article

Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01281-1

By:

Vogelezang, Suzanne;
Bradfield, Jonathan P.;
the Early Growth Genetics Consortium;
Johansson, Stefan;
Stergiakouli, Evie;
Thiering, Elisabeth;
Pennell, Craig E.;
Ahluwalia, Tarunveer S.;
Karhunen, Ville;
Scholz, Markus;
Liu, Xueping;
Iñiguez, Carmen;
Raitakari, Olli T.;
Bacelis, Jonas;
Schnurr, Theresia M.;
Lakka, Timo A.;
Ntalla, Ioanna;
Lind, Mads V.;
Lauritzen, Lotte;
Herrala, Sauli

Publication type:

Article

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01274-0

By:

Dai, Jincheng;
Zeng, Jun;
Tan, Hongxi;
Cai, Xiangsheng;
Wu, Benqing

Publication type:

Article

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01262-4

By:

Malakootian, Mahshid;
Bagheri Moghaddam, Mahrokh;
Kalayinia, Samira;
Farrashi, Melody;
Maleki, Majid;
Sadeghipour, Parham;
Amin, Ahmad

Publication type:

Article

The effect of hemolysis on quality control metrics for noninvasive prenatal testing.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01280-2

By:

Guo, Yaya;
Yu, Dandan;
Zhou, Kaisu;
Wang, Jie;
Lei, Dongzhu;
Xu, Zhenpeng;
Tang, Weijiang;
Wu, Miaofeng;
Fang, Xingxing;
Shen, Jiankun;
Peng, Zhiyu;
Xiang, Jiale

Publication type:

Article

How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01270-4

By:

Kwong, Ava;
Ho, Cecilia Yuen Sze;
Shin, Vivian Yvonne;
Au, Chun Hang;
Chan, Tsun-Leung;
Ma, Edmond Shiu Kwan

Publication type:

Article

Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.

Published in:

2022

By:

Gu, Ping;
Wang, Guojian;
Gao, Xue;
Kang, Dongyang;
Dai, Pu;
Huang, Shasha

Publication type:

Case Study

Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01272-2

By:

De Salvatore, Sergio;
Ruzzini, Laura;
Longo, Umile Giuseppe;
Marino, Martina;
Greco, Alessandra;
Piergentili, Ilaria;
Costici, Pier Francesco;
Denaro, Vincenzo

Publication type:

Article

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01268-y

By:

Fawcett, Katherine A.;
Demidov, German;
Shrine, Nick;
Paynton, Megan L.;
Ossowski, Stephan;
Sayers, Ian;
Wain, Louise V.;
Hollox, Edward J.

Publication type:

Article

Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina Faso.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01279-9

By:

Kadanga, Essonan;
Zouré, Abdou Azaque;
Zohoncon, Théodora M.;
Traoré, Lassina;
Ky, Bienvenu Désiré;
Yonli, Albert Théophane;
Traoré, Djé Djénèba Aïda;
Bazié, Bapio Valery Jean Télesphore Elvira;
Sombié, Herman Karim;
Sorgho, Pegdwendé Abel;
Tovo, Sessi Frida Appoline;
Traoré, Kalifou;
Ouedraogo, Teega-Wendé Clarisse;
Djigma, Florencia W.;
Simpore, Jacques

Publication type:

Article

Multiple metastases of androgen indifferent prostate cancer in the urinary tract: two case reports and a literature review.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01267-z

By:

Masuda, Tsukasa;
Kosaka, Takeo;
Nakamura, Kohei;
Hongo, Hiroshi;
Yuge, Kazuyuki;
Nishihara, Hiroshi;
Oya, Mototsugu

Publication type:

Article

Identifying Alzheimer's genes via brain transcriptome mapping.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01260-6

By:

Baik, Jae Young;
Kim, Mansu;
Bao, Jingxuan;
Long, Qi;
Shen, Li

Publication type:

Article

High level of heterozygous haplotype of hemoglobin in Abidjan population with mild malaria.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01263-3

By:

Koui, Tosséa A. Stéphane;
Gnondjui, Alloh Albert;
Gbessi, Adji Eric;
Ako, Ako Aristide Bérenger;
Coulibaly, Baba;
Aka, A. Delpêche;
Gonedele, Bi Sery E.;
Toure, Offiana André;
Jambou, Ronan

Publication type:

Article