Showing 181 - 200 results of 1,480 for search '"BMC Medical Genomics"', query time: 0.14s Refine Results
  1. 181
    Impact of mutations in DNA methylation modification genes on genome-wide methylation landscapes and downstream gene activations in pan-cancer

    Impact of mutations in DNA methylation modification genes on genome-wide methylation landscapes and downstream gene activations in pan-cancer by Chai-Jin Lee, Hongryul Ahn, Dabin Jeong, Minwoo Pak, Ji Hwan Moon, Sun Kim

    Published 2020-02-01
    “…BMC Medical Genomics…”
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  2. 182
    A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report

    A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid:... by Fei Qiao, Feng Ren, Weiting Lu, Haoran Yang, Guiling Mo, Shuangshuang Wang, Lina Liu, Xiangtao Xu

    Published 2023-07-01
    “…BMC Medical Genomics…”
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  3. 183
    Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

    Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure by Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti

    Published 2023-11-01
    “…BMC Medical Genomics…”
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  4. 184
    Molecular analysis of the vaginal response to estrogens in the ovariectomized rat and postmenopausal woman

    Molecular analysis of the vaginal response to estrogens in the ovariectomized rat and postmenopausal woman by Peano Bryan J, Brown Eugene L, Dorner Andrew J, Saraf Kathryn, Wilson Ewa, Cotreau Monette M, Crabtree Judy S, Choe Sung E, Jelinsky Scott A, Zhang Xiaochun, Winneker Richard C, Harris Heather A

    Published 2008-06-01
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  5. 185
    Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study

    Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study by Devereux Richard B, Rao DC, Gu Charles C, Broeckel Ulrich, Meyers Kristin J, Patki Amit, Wineinger Nathan E, Arnett Donna K, Tiwari Hemant K

    Published 2011-01-01
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  6. 186
    Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant

    Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant by Qian Dou, HongEn Xu, LiYing Ma, Li Tan, WenXue Tang

    Published 2023-10-01
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  7. 187
    Weighted gene co-expression network analysis revealed T cell differentiation associated with the age-related phenotypes in COVID-19 patients

    Weighted gene co-expression network analysis revealed T cell differentiation associated with the age-related phenotypes in COVID-19 patients by Yao Lin, Yueqi Li, Hubin Chen, Jun Meng, Jingyi Li, Jiemei Chu, Ruili Zheng, Hailong Wang, Peijiang Pan, Jinming Su, Junjun Jiang, Li Ye, Hao Liang, Sanqi An

    Published 2023-03-01
    “…BMC Medical Genomics…”
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  8. 188
    The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad

    The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad by Kumuda Irgam, Battini Sriteja Reddy, Sai Gayathri Hari, Swathi Banapuram, Battini Mohan Reddy

    Published 2021-11-01
    “…BMC Medical Genomics…”
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  9. 189
    CDCOCA: A statistical method to define complexity dependence of co-occuring chromosomal aberrations

    CDCOCA: A statistical method to define complexity dependence of co-occuring chromosomal aberrations by Cai Haoyang, Rehrauer Hubert, Kumar Nitin, Baudis Michael

    Published 2011-03-01
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  10. 190
    Fibroblasts from phenotypically normal palmar fascia exhibit molecular profiles highly similar to fibroblasts from active disease in Dupuytren's Contracture

    Fibroblasts from phenotypically normal palmar fascia exhibit molecular profiles highly similar to fibroblasts from active disease in Dupuytren's Contracture by Satish Latha, LaFramboise William A, Johnson Sandra, Vi Linda, Njarlangattil Anna, Raykha Christina, Krill-Burger John Michael, Gallo Phillip H, O'Gorman David B, Gan Bing, Baratz Mark E, Ehrlich Garth D, Kathju Sandeep

    Published 2012-05-01
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  11. 191
    Mutational profiling of micro-dissected pre-malignant lesions from archived specimens

    Mutational profiling of micro-dissected pre-malignant lesions from archived specimens by Daniela Nachmanson, Joseph Steward, Huazhen Yao, Adam Officer, Eliza Jeong, Thomas J. O’Keefe, Farnaz Hasteh, Kristen Jepsen, Gillian L. Hirst, Laura J. Esserman, Alexander D. Borowsky, Olivier Harismendy

    Published 2020-11-01
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  12. 192
    CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis

    CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis by Xinyi Zhou, Fanyu Meng, Linmei Xiao, Hua Shen

    Published 2023-10-01
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  13. 193
    Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up

    Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up by Huamei Hu, Yulin Huang, Renke Hou, Huanhuan Xu, Yalan Liu, Xueqian Liao, Juchun Xu, Lupin Jiang, Dan Wang

    Published 2023-04-01
    “…BMC Medical Genomics…”
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  14. 194
    Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

    Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family by Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

    Published 2022-07-01
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  15. 195
    Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

    Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings by Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Rong He, Guoming Chu, Yanyan Zhao

    Published 2021-09-01
    “…BMC Medical Genomics…”
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  16. 196
    Identification of immune cells infiltrating in hippocampus and key genes associated with Alzheimer’s disease

    Identification of immune cells infiltrating in hippocampus and key genes associated with Alzheimer’s disease by Chenming Liu, Sutong Xu, Qiulu Liu, Huazhen Chai, Yuping Luo, Siguang Li

    Published 2023-03-01
    “…BMC Medical Genomics…”
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  17. 197
    MLL rearrangements in pediatric acute lymphoblastic and myeloblastic leukemias: MLL specific and lineage specific signatures

    MLL rearrangements in pediatric acute lymphoblastic and myeloblastic leukemias: MLL specific and lineage specific signatures by te Kronnie Geertruy, Dell'Orto Marta, Zangrando Andrea, Basso Giuseppe

    Published 2009-06-01
    “…BMC Medical Genomics…”
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  18. 198
    Distinct gene subsets in pterygia formation and recurrence: dissecting complex biological phenomenon using genome wide expression data

    Distinct gene subsets in pterygia formation and recurrence: dissecting complex biological phenomenon using genome wide expression data by Ang Leonard PK, Yang Henry, Chew Jaime, Tong Louis, Tan Donald TH, Beuerman Roger W

    Published 2009-03-01
    “…BMC Medical Genomics…”
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  19. 199
    Genome-wide analysis revealed the dysregulation of RNA binding protein-correlated alternative splicing events in myocardial ischemia reperfusion injury

    Genome-wide analysis revealed the dysregulation of RNA binding protein-correlated alternative splicing events in myocardial ischemia reperfusion injury by Ning Ma, Hao Xu, Weihua Zhang, Xiaoke Sun, Ruiming Guo, Donghai Liu, Liang Zhang, Yang Liu, Jian Zhang, Chenhui Qiao, Dong Chen, Ailing Luo, Jingyun Bai

    Published 2023-10-01
    “…BMC Medical Genomics…”
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  20. 200
    YWHAH, a member of 14-3-3 family proteins, and PSME2, the proteasome activator subunit 2, are key host factors of Japanese encephalitis virus infection

    YWHAH, a member of 14-3-3 family proteins, and PSME2, the proteasome activator subunit 2, are key host factors of Japanese encephalitis virus infection by Chaoyue Liu, Yanhong Yang, Qianqian Li, Weimin Hu, Jinxia Chang, Rong Chen, Hong Zhu, Mingfei Xu

    Published 2023-07-01
    “…BMC Medical Genomics…”
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