| Title |
Author |
Type |
Date |
Words |
| SARS CoV2 Variant Delta and Delta Plus, Molecular Change and Expected Impact of Response to COVID-19 Vaccine. |
Yasri, Sora; Wiwanitkit, Viroj |
Letter to the editor |
May 1, 2022 |
692 |
| The long-term outcomes and risk factors for precursor B-cell acute lymphoblastic leukemia without specific fusion genes in Chinese children: Experiences from multiple centers. |
Zou, Pinli; Zhou, Min; Wen, Jinquan; Liao, Xin; Shen, Yali; Liu, Haiyan; Song, Lin; Xiao, Jianwen |
Report |
May 1, 2022 |
6443 |
| Dissecting and analyzing the Subclonal Mutations Associated with Poor Prognosis in Diffuse Glioma. |
Bai, Ming; Wang, Xiaolong; Zhang, Huixue; Wang, Jianjian; Lyaysan, Gaysina; Xu, Si; Tian, Kuo |
Report |
Apr 18, 2022 |
10482 |
| Development of a 5-Gene Signature to Evaluate Lung Adenocarcinoma Prognosis Based on the Features of Cancer Stem Cells. |
Wan, Renping; Liao, Hongliang; Liu, Jingting; Zhou, Lin; Yin, Yingqiu; Mu, Tianhao; Wei, Jie |
Report |
Apr 16, 2022 |
8590 |
| Breast cancer drug that cuts dying by third; Major step against early-stage tumours. |
MARTIN BAGOT Health Editor |
|
Mar 17, 2022 |
169 |
| Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. |
Ates, Esra Arslan; Alavanda, Ceren; Demir, Senol; Keklikkiran, Caglayan; Attaallah, Wafi; Ozdogan, O |
Report |
Feb 1, 2022 |
3667 |
| A Pan-Cancer Study of KMT2 Family as Therapeutic Targets in Cancer. |
Zhu, Jiamin; Liu, Zhili; Liang, Xiao; Wang, Lu; Wu, Dan; Mao, Weidong; Shen, Dong |
|
Jan 11, 2022 |
7343 |
| A Case of Gitelman Syndrome; Incidentally Diagnosed in Elderly/Tesadufen Tani Alan Ileri Yas Bir Gitelman Sendromu Olgusu. |
Karaahmetoglu, Selma; Coskun, Mehmet Veysel |
Clinical report |
Jan 1, 2022 |
1790 |
| Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages. |
Candayan, Ayse; Parman, Yesim; Battaloglu, Esra |
Report |
Jan 1, 2022 |
7349 |
| Mucopolysaccharidosis Type II: A Kenyan Case Series. |
Mungai, L. N. Wainaina; Njeru, C. M.; Nyamai, L. A.; Maina, M. |
|
Dec 22, 2021 |
3096 |
| Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder. |
Hnoonual, Areerat; Jankittunpaiboon, Charunee; Limprasert, Pornprot |
Report |
Dec 8, 2021 |
9696 |
| Molecular Alterations of Circulating Cell-Free DNA in the Pathological Progression of Hepatocellular Carcinoma. |
Guo, Wenbo; Lu, Jilin; Yan, Linlin; Sun, Debin; Gong, Longlong; Shi, Wei |
|
Dec 3, 2021 |
4910 |
| PerkinElmer Says That Omicron Variant Does Not Impact SARS-CoV-2 Detection Capability of its RT-PCR Assays. |
|
|
Nov 29, 2021 |
224 |
| Bioinformatic Analysis of Immune Significance of RYR2 Mutation in Breast Cancer. |
Xu, Zhiquan; Xiang, Ling; Wang, Rong; Xiong, Yongfu; Zhou, He; Gu, Haitao; Wang, Jijian |
Report |
Nov 3, 2021 |
6462 |
| The reliability and interobserver reproducibility of T2/FLAIR mismatch in the diagnosis of IDH-mutant astrocytomas. |
Yeniceri, Ibrahim Onder; Yildiz, Mehmet Erdem; Ozduman, Koray; Danyeli, Ayca Ersen; Pamir, M. Necmet |
Report |
Nov 1, 2021 |
4696 |
| Applied DNA Submits Request for Emergency Use Authorization to FDA for Linea SARS-CoV-2 Mutation Panel. |
|
|
Oct 26, 2021 |
786 |
| Prognostic Value of BIM Deletion in EGFR-Mutant NSCLC Patients Treated with EGFR-TKIs: A Meta-Analysis. |
Lv, Fangfang; Sun, Liang; Yang, Qiuping; Pan, Zheng; Zhang, Yuhua |
Report |
Oct 13, 2021 |
8210 |
| Genomic Sequencing of SARS-CoV-2 E484K Variant B.1.243.1, Arizona, USA. |
Skidmore, Peter T.; Kaelin, Emily A.; Holland, LaRinda A.; Maqsood, Rabia; Wu, Lily I.; Mellor, Nich |
Report |
Oct 1, 2021 |
1412 |
| SARS-CoV-2 Neutralization Resistance Mutations in Patient with HIV/AIDS, California, USA. |
Hoffman, Seth A.; Costales, Cristina; Sahoo, Malaya K.; Palanisamy, Srikanth; Yamamoto, Fumiko; Huan |
Report |
Oct 1, 2021 |
1729 |
| Emergence of SARS-COV-2 Spike Protein Escape Mutation Q493R after Treatment for COVID-19. |
Focosi, Daniele; Novazzi, Federica; Genoni, Angelo; Dentali, Francesco; Gasperina, Daniela Dalla; Ba |
Report |
Oct 1, 2021 |
1281 |
| A Machine Learning Study on the Thermostability Prediction of (R)-? -Selective Amine Transaminase from Aspergillus terreus. |
Jia, Li-li; Sun, Ting-ting; Wang, Yan; Shen, Yu |
Report |
Aug 17, 2021 |
5293 |
| Association of Factor V Leiden G1691A and Prothrombin gene G20210A mutations with adverse pregnancy outcomes. |
Ali, Sidra Asad; Moiz, Bushra; Sheikh, Lumaan |
Report |
Jul 13, 2021 |
2753 |
| Human Coronavirus: Envelope Protein Evolution. |
Ankulkar, Rutuja |
|
Jun 1, 2021 |
1224 |
| Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations. |
Zhang, Jian-hui; Ruan, Dan-dan; Hu, Ya-nan; Ruan, Xing-lin; Zhu, Yao-bin; Yang, Xiao; Wu, Jia-bin |
Report |
May 10, 2021 |
7489 |
| Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients. |
Saleem, Tayyaba; Mustafa, Arooj; Sheikh, Nadeem; Mukhtar, Maryam; Irfan, Mavra; Suqaina, Saira Kaina |
Report |
Apr 21, 2021 |
3908 |
| Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block. |
Dong, Yi; Du, Ran; Fan, Liang-liang; Jin, Jie-yuan; Huang, Hao; Chen, Ya-qin; Bi, Dan-dong |
Report |
Apr 19, 2021 |
3324 |
| Prognostic Significance of CD56 Antigen Expression in Patients with De Novo Non-M3 Acute Myeloid Leukemia. |
Sun, Yanni; Wan, Jia; Song, Qiuyue; Luo, Chengxin; Li, Xi; Luo, Yanrong; Huang, Xiangtao |
Report |
Apr 8, 2021 |
5769 |
| P.arg102ser is a common Pde6[alpha] mutation causing autosomal recessive retinitis pigmentosa in Pakistani families. |
Khan, Anoshiya Ali; Waryah, Yar Muhammad; Iqbal, Muhammad; Baig, Hafiz Muhammad Azhar; Rafique, Muha |
Report |
Mar 31, 2021 |
2819 |
| Multiomics Analysis of Transcriptome, Epigenome, and Genome Uncovers Putative Mechanisms for Dilated Cardiomyopathy. |
Liu, Li; Huang, Jianjun; Liu, Yan; Pan, Xingshou; Li, Zhile; Zhou, Liufang; Lai, Tengfang |
Report |
Mar 30, 2021 |
6023 |
| Sidra Medicine Pathology identifies new mutation likely to affect COVID-19 testing. |
|
|
Mar 25, 2021 |
522 |
| Sidra Medicine identifies new mutation that may affect Covid-19 testing. |
|
|
Mar 24, 2021 |
503 |
| A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia. |
Guo, Bing-Bing; Jin, Jie-Yuan; Yuan, Zhuang-Zhuang; Zeng, Lei; Xiang, Rong |
Report |
Mar 8, 2021 |
4455 |
| A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China. |
Jin, Jing; Liang, Xinxin; Wei, Jie; Xu, Lingling |
Clinical report |
Feb 26, 2021 |
2694 |
| A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development. |
Shen, Ru; Zhang, Zhen; Zhuang, Yu; Yang, Xiaohong; Duan, Lifen |
Report |
Feb 26, 2021 |
4279 |
| Plasmodium falciparum Histidine-Rich Protein 2 and 3 Gene Deletions in Strains from Nigeria, Sudan, and South Sudan. |
Prosser, Christiane; Gresty, Karryn; Ellis, John; Meyer, Wieland; Anderson, Karen; Lee, Rogan; Cheng |
Report |
Feb 1, 2021 |
5725 |
| Spread of Multidrug-Resistant Rhodococcus equi, United States. |
Alvarez-Narvaez, Sonsiray; Giguere, Steeve; Cohen, Noah; Slovis, Nathan; Vazquez-Boland, Jose A. |
Report |
Feb 1, 2021 |
4810 |
| Vaccine-Derived Polioviruses, Central African Republic, 2019. |
Dote, Marie-Line JoffreJoel Wilfried; Gumede, Nicksy; Vignuzzi, Marco; Bessaud, Mael; Gouandjika-Vas |
Report |
Feb 1, 2021 |
2076 |
| Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening. |
Saboor, Muhammad; Mobarki, Abdullah Ahmed; Hamali, Hassan Abdu; Halawani, Amr Jamal; Abdullah, Saleh |
Report |
Jan 19, 2021 |
3005 |
| Elucidation of the Genomic-Epigenomic Interaction Landscape of Aggressive Prostate Cancer. |
Kumar Mamidi, Tarun Karthik; Wu, Jiande; Hicks, Chindo |
Report |
Jan 15, 2021 |
10701 |
| US FDA Lists Applied DNA's Linea COVID-19 Assay Kit as 1 of Only 2 EUA-Authorized Tests Able to Detect S-Gene Mutation Found in SARS-CoV-2 UK Variant. |
|
|
Jan 8, 2021 |
599 |
| SMARCA4/BRG1-Defident Non-Small Cell Lung Carcinomas: A Case Series and Review of the Literature. |
Nambirajan, Aruna; Singh, Varsha; Bhardwaj, Nishu; Mittal, Saurabh; Kumar, Sunil; Jain, Deepali |
Report |
Jan 1, 2021 |
6415 |
| Proteus syndrome caused by novel somatic AKT1 duplication. |
AlAnzi, Talal; Al-mashharawi, Eman; Alhashem, Amal |
Clinical report |
Jan 1, 2021 |
2007 |
| Effect of Tumor Microenvironment and Angiogenesis on Clinical Outcomes of Primary Central Nervous System Lymphoma. |
Wang, Hui-Ching; Hsiao, Hui-Hua; Du, Jeng-Shiun; Cho, Shih-Feng; Yeh, Tsung-Jang; Gau, Yuh-Ching; Li |
Report |
Jan 1, 2021 |
5651 |
| A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities. |
Bai, Dan; Zhang, Xudong; Li, Yu; Ni, Jing; Lan, Kai |
Report |
Jan 1, 2021 |
3787 |
| Gene Instability-Related lncRNA Prognostic Model of Melanoma Patients via Machine Learning Strategy. |
Yan, Kexin; Wang, Yutao; Shao, Yining; Xiao, Ting |
|
Jan 1, 2021 |
6035 |
| Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach. |
Rasheed, Muhammad Asif; Kanwal, Sumaira; Jamil, Farrukh; Ibrahim, Muhammad; Perveen, Shazia |
Report |
Dec 31, 2020 |
2333 |
| B7-H3-Induced Signaling in Lung Adenocarcinoma Cell Lines with Divergent Epidermal Growth Factor Receptor Mutation Patterns. |
Ding, Meng; Liao, Haixiu; Zhou, Nannan; Yang, Ying; Guan, Shihe; Chen, Liwen |
Report |
Dec 24, 2020 |
4447 |
| Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series. |
Sethi, Aashish; Foulds, Nicola; Ehtisham, Sarah; Ahmed, Syed Haris; Houghton, Jayne; Colclough, Kevi |
Clinical report |
Dec 1, 2020 |
3973 |
| Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. |
Ustkoyuncu, Pembe Soylu; Gokay, Songul; Eren, Esra; Dogan, Durmus; Yildiz, Gokce; Yilmaz, Aysegul; M |
Clinical report |
Dec 1, 2020 |
2611 |
| Recognition of Immune Microenvironment Landscape and Immune-Related Prognostic Genes in Breast Cancer. |
Wang, Huiling; You, Shuo; Fang, Meng; Fang, Qian |
Report |
Nov 16, 2020 |
5131 |
| Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome. |
Wang, Zhendong; Jiang, Baichun; Jin, Shiqi; Hu, Zhao; Liu, Guangyi |
Report |
Nov 11, 2020 |
2812 |
| Tunisian research within two weeks to identify genetic mutations in SARS-Cov 2. |
|
|
Nov 5, 2020 |
298 |
| Coronavirus mutation may have made it more contagious, study warns; Researchers from the University of Texas, Austin, have analysed more than 5,000 Covid-19 patients to understand how the SARS-CoV-2 virus has mutated. |
By, Shivali Best |
|
Nov 2, 2020 |
263 |
| Evaluation of Fluoroquinolone Resistance in Clinical Avian Pathogenic Escherichia coli Isolates from Flanders (Belgium). |
Temmerman, Robin; Garmyn, An; Antonissen, Gunther; Vanantwerpen, Gerty; Vanrobaeys, Mia; Haesebrouck |
|
Nov 1, 2020 |
7555 |
| Independent Prognostic Potential of GNPNAT1 in Lung Adenocarcinoma. |
Zheng, Xiangyu; Li, Yongwei; Ma, Chao; Zhang, Jinjun; Zhang, Yanmin; Fu, Zongqiang; Luo, Huan |
Report |
Oct 30, 2020 |
8630 |
| Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population. |
Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin |
|
Oct 1, 2020 |
3855 |
| Helicobacter pylori Primary and Secondary Genotypic Resistance to Clarithromycin and Levofloxacin Detection in Stools: A 4-Year Scenario in Southern Italy. |
Losurdo, Giuseppe; Giorgio, Floriana; Pried, Maria; Girardi, Bruna; Russo, Francesco; Riezzo, Giusep |
Clinical report |
Oct 1, 2020 |
3821 |
| Bacteriophage-Induced Lipopolysaccharide Mutations in Escherichia coli Lead to Hypersensitivity to Food Grade Surfactant Sodium Dodecyl Sulfate. |
Zhong, Zeyan; Emond-Rheault, JeanGuillaume; Bhandare, Sudhakar; Levesque, Roger; Goodridge, Lawrence |
Report |
Sep 1, 2020 |
7464 |
| Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism. |
Hashemian, Somayyeh; Esfehani, Reza Jafarzadeh; Karimdadi, Siroos; Vakili, Rahim; Zamanfar, Daniel; |
|
Aug 31, 2020 |
3568 |
| Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population. |
Gutierrez-Castaneda, Luz D.; Gamboa, Mauricio; Nova, John A.; Pulido, Leonardo; Tovar-Parra, Jose D. |
Report |
Aug 31, 2020 |
7330 |
| Coronavirus strain mutation no cause for alarm, scientists say. |
|
|
Aug 19, 2020 |
897 |
| Increased breast cancer testing would save thousands of lives; Broadening cancer gene testing to include the population of the UK could prevent almost 6,000 deaths from breast cancer each year and would prove cost effective according to an international study. |
Kevan Christie |
|
Jul 24, 2020 |
633 |
| A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG. |
Demirtas, Coskun Ozer; Ata, Pinar; Cetin, Ali; Turkyilmaz, Ayberk; Duman, Deniz Guney |
|
Jul 1, 2020 |
3630 |
| A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG. |
Demirtas, Coskun Ozer; Ata, Pinar; Cetin, Ali; Turkyilmaz, Ayberk; Duman, Deniz Guney |
|
Jul 1, 2020 |
3691 |
| Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism. |
Salameh, Rami; Miah, Mumtaheena; Anastasopoulou, Catherine |
|
Jun 30, 2020 |
1201 |
| Discovery of a Novel Mutation in DNA Gyrase and Changes in the Fluoroquinolone Resistance of Helicobacter pylori over a 14-Year Period: A Single Center Study in Korea. |
Rhie, Su Yeon; Park, Jae Yong; Shin, Tae-Seop; Kim, Jeong Wook; Kim, Beom Jin; Kim, Jae Gyu |
Report |
Jun 1, 2020 |
6387 |
| The genetic landscape of COVID-19: A South Asian perspective. |
Thomas, Vineeth; Audsley, Jennifer; Kapoor, Nitin |
Report |
May 31, 2020 |
2577 |
| Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer. |
Harpaz, Noa; Gatt, Yair Eli; Granit, Roy Zvi; Fruchtman, Hila; Hubert, Ayala; Grinshpun, Albert |
Clinical report |
May 31, 2020 |
6150 |
| Regulation of Iron Homeostasis and Related Diseases. |
Li, Yikun; Huang, Xiali; Wang, Jingjing; Huang, Ruiling; Wan, Dan |
|
May 31, 2020 |
8903 |
| Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome. |
Wu, Bo-Da; Wang, Yong-Jun; Fan, Liang-Liang; Huang, Hui; Zhou, Peng; Yang, Mei; Shi, Xiao-Liu |
|
May 31, 2020 |
4849 |
| Novel GNE mutations in three Chinese patients with typical GNE myo-pathy. |
Ban, Rui; Lu, Xianghui; Pu, Chuanqiang; Shi, Qiang; Wang, Huifang; Liu, Huaxu; Zhang, Yutong |
Clinical report |
May 12, 2020 |
2706 |
| USPSTF round-up: The Task Force now recommends that physicians take steps to prevent perinatal depression and has modified its recommendation on lead screening. |
Campos-Outcalt, Doug |
|
May 1, 2020 |
2402 |
| Molecular Assessment of Resistance to Clarithromycin in Helicobacter pylori Strains Isolated from Patients with Dyspepsia by Fluorescent In Situ Hybridization in the Center of Iran. |
Vazirzadeh, Jina; Falahi, Jamal; Moghim, Sharareh; Narimani, Tahmineh; Rafiei, Rahmatollah; Karbasiz |
|
Apr 30, 2020 |
4644 |
| Acquisition of Colistin Resistance Links Cell Membrane Thickness Alteration with a Point Mutation in the lpxD Gene in Acinetobacter baumannii. |
Saleh, Neveen M.; Hesham, Marwa S.; Amin, Magdy A.; Mohamed, Reham Samir |
Report |
Apr 1, 2020 |
6921 |
| Gene Expression Analysis of Human Papillomavirus-Associated Colorectal Carcinoma. |
Qiu, Qiancheng; Li, Yazhen; Fan, Zhiqiang; Yao, Fen; Shen, Wenjun; Sun, Jiayu; Yuan, Yumeng; Chen, J |
|
Mar 31, 2020 |
8239 |
| Characterizations of Gene Alterations in Melanoma Patients from Chinese Population. |
Luo, Yi; Zhang, Zhenzhen; Liu, Jianfan; Li, Linqing; Xu, Xuezheng; Yao, Xinyu; Dai, Zixun; Wang, Xin |
|
Mar 1, 2020 |
5224 |
| The Value of Next-Generation Sequencing for Treatment in Non-Small Cell Lung Cancer Patients: The Observational, Real-World Evidence in China. |
Zhang, Yan; Shen, Wen-Xiang; Zhou, Li-Na; Tang, Min; Tan, Yue; Feng, Chun-Xia; Li, Ping; Wang, Li-Qi |
|
Mar 1, 2020 |
4100 |
| Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis. |
Pogoda, Katarzyna; Niwinska, Anna; Sarnowska, ElZbieta; Nowakowska, Dorota; Jagiello-Gruszfeld, Agni |
|
Mar 1, 2020 |
5613 |
| Mutations In Donors' Stem Cells May Cause Problems For Cancer Patients. |
|
|
Jan 27, 2020 |
1015 |
| Candidatus Mycoplasma haemohominis in Human, Japan. |
Hattori, Norimichi; Kuroda, Makoto; Katano, Harutaka; Takuma, Takahiro; Ito, Takayoshi; Arai, Nana; |
|
Jan 1, 2020 |
4591 |
| Retrospective Review of 374 Samples, Circulating DNA; As a Biomarker Assay to Support Clinical Management in Solid Tumors Treated with Multi Targeted Epigenetic Therapy (MTET). |
Nezami, M.; Klowsowski, C.; Hager, S.J. |
Report |
Jan 1, 2020 |
1740 |
| Genotypes and Hot Spot Mutations of Hepatitis B Virus in Northwest Chinese Population and Its Correlation with Diseases Progression. |
Wang, Wei; Shu, Yi; Bao, Han; Zhao, Wenliang; Wang, Weihua; Wang, Qin; Lei, Xiaoying; Cui, Daxiang; |
|
Dec 31, 2019 |
7128 |
| The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. |
Kurtulgan, Hande Kucuk; Altuntas, Emine Elif; Yildirim, Malik Ejder; Ozdemir, Ozturk; Bagci, Binnur; |
|
Dec 1, 2019 |
5750 |
| Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China. |
Xu, Aijing; Cheng, Jing; Sheng, Huiying; Wen, Zhe; Lin, Yunting; Zhou, Zhihong; Zeng, Chunhua; Shao, |
Report |
Dec 1, 2019 |
6975 |
| Cupid and Psyche system for the diagnosis and treatment of advanced cancer. |
Sugiyama, Akira; Kawamura, Takeshi; Tanaka, Toshiya; Doi, Hirofumi; Yamashita, Takefumi; Shinoda, Ke |
Disease/Disorder overview |
Dec 1, 2019 |
4525 |
| Recent Developments in Breast Cancer/ Meme Kanserinde Guncel Gelismeler. |
Akyolcu, Neriman; Ozhanli, Yasemin; Kandemir, Didem |
Report |
Dec 1, 2019 |
6162 |
| Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis. |
Feng, Liuxing; Hong, Shifu; Gao, Jin; Li, Jiayi |
|
Nov 30, 2019 |
3329 |
| Primary immunodeficiency in Africa--a review. |
Erjaee, A.; Bagherpour, M.; van Rooyen, C.; van den Berg, S.; Kinnear, C.J.; PhD; Green, R.J.; Peppe |
|
Aug 1, 2019 |
8400 |
| Multiple Molecular Targets Associated with Genomic Instability in Lung Cancer. |
Soca-Chafre, Giovanny; Montiel-Davalos, Angelica; De La Rosa-Velazquez, Inti Alberto; Caro-Sanchez, |
|
Jul 31, 2019 |
5383 |
| Ovarian cancer drug approved; UK & WORLD. |
|
|
Jul 26, 2019 |
162 |
| Ovarian cancer drug approved; UK & WORLD. |
|
|
Jul 26, 2019 |
162 |
| Neoantigens Derived from Recurrently Mutated Genes as Potential Immunotherapy Targets for Gastric Cancer. |
Zhou, Jie; Zhao, Wenyi; Wu, Jingcheng; Lu, Jun; Ding, Yongfeng; Wu, Shanshan; Wang, Haiyong; Ding, D |
|
Jun 30, 2019 |
5683 |
| Placental Ageing in Adverse Pregnancy Outcomes: Telomere Shortening, Cell Senescence, and Mitochondrial Dysfunction. |
Manna, Samprikta; McCarthy, Cathal; McCarthy, Fergus P. |
|
Jun 30, 2019 |
8992 |
| Mitochondrial Transfer of Wharton's Jelly Mesenchymal Stem Cells Eliminates Mutation Burden and Rescues Mitochondrial Bioenergetics in Rotenone-Stressed MELAS Fibroblasts. |
Lin, Tsu-Kung; Chen, Shang-Der; Chuang, Yao-Chung; Lan, Min-Yu; Chuang, Jiin-Haur; Wang, Pei-Wen; Hs |
|
Jun 30, 2019 |
7287 |
| Genetics does have a role in cancer risk; DR MIRIAM STOPPARD; Helping to keep you fit and healthy. |
|
|
Jun 18, 2019 |
451 |
| China gene babies' mutation linked to higher mortality: study. |
|
|
Jun 4, 2019 |
526 |
| Does BRCA gene mutation affect comorbidity in patients with breast cancer? |
Topaloglu, Ulas Serkan; Kiraz, Aslihan |
|
Jun 1, 2019 |
254 |
| Could a vaccine help treat colon cancer? DR MIRIAM STOPPARD; Helping to keep you fit and healthy. |
|
|
May 31, 2019 |
404 |
| Direct Genetics Referral Pathway for High-Grade Serous Ovarian Cancer Patients: The "Opt-Out" Process. |
McGee, Jacob; Peart, Teresa M.; Foley, Norine; Bertrand, Monique; Prefontaine, Michel; Sugimoto, Aki |
|
Apr 30, 2019 |
4855 |
| Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer. |
Mamidi, Tarun Karthik Kumar; Wu, Jiande; Hicks, Chindo |
|
Apr 30, 2019 |
7494 |
| Immunohistochemical Analysis of BRAF (V600E) Mutation and P16 Expression in Malignant Melanoma in Lagos, Nigeria: A 10-Year Retrospective Study. |
Obadofin, O.; Badmos, K.; Orsi, N.; Bipin, M.; Rotimi, O.; Banjo, A. |
Report |
Apr 30, 2019 |
3290 |
| Sanliurfa Ilindeki Ter Testi Sonucu Supheli Olan ve Klinik On Tanisi Kistik Fibrozis Olan Hasta Gruplarindaki CFTR Gen Mutasyonlarinin Yeni Nesil Dizileme Yontemi ile Incelenmesi/Examination of CFTR Gene Mutations in Patient Groups with Borderline Sweat Test and Clinical Preliminary Diagnosis of Cystic Fibrosis by Next-Generation Sequencing Method in Sanliurfa Province. |
Gumus, Evren |
Report |
Apr 19, 2019 |
3348 |
| Wolman Hastaliginda Yeni Bir Mutasyon: Olgu Sunumu/A New Mutation in Diagnosis of Wolman Disease: Case Report. |
Cansever, Mehmet Serif; Aslan, Mine; Zubarioglu, Tanyel |
Clinical report |
Apr 17, 2019 |
1487 |
| Graduate writes new book on 'Understanding BRCA'. |
|
|
Apr 10, 2019 |
311 |
| A Way to Prevent Inherited Diseases. |
|
Brief article |
Apr 1, 2019 |
295 |
| Remodelling and Improvements in Organoid Technology to Study Liver Carcinogenesis in a Dish. |
Tharehalli, Umesh; Svinarenko, Michael; Lechel, Andre |
|
Mar 31, 2019 |
5652 |
| Genotypic and Phenotypic Variables Affect Meiotic Cell Cycle Progression, Tumor Ploidy, and Cancer-Associated Mortality in a brca2-Mutant Zebrafish Model. |
Mensah, L.; Ferguson, J.L.; Shive, H.R. |
|
Mar 31, 2019 |
11502 |
| Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses. |
Hoan, Tiffany K.; Albert, Daniel A. |
Report |
Mar 1, 2019 |
4790 |
| Clinical Validation of Coexisting Activating Mutations Within EGFR, Mitogen-Activated Protein Kinase, and Phosphatidylinositol 3-Kinase Pathways in Lung Cancers. |
De Marchi, Federico; Haley, Lisa; Fryer, Henderson; Ibrahim, Junaid; Beierl, Katie; Zheng, Gang; Goc |
Report |
Feb 1, 2019 |
6681 |
| Genetic Susceptibility to Common Cold Found. |
|
|
Feb 1, 2019 |
433 |
| Prognostic value of 1p/19q chromosomal codeletion in patients with oligodendroglioma. |
Laghari, Altaf Ali; Khalid, Muhammad Usman; Qadeer, Namra; Shamim, Muhammad Shahzad |
Report |
Jan 31, 2019 |
1522 |
| DNA methylation: Atherosclerosis leading to congenital heart diseases. |
Khan, Sher; Rehman, Rehana |
|
Jan 31, 2019 |
575 |
| Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age. |
Ozdemir, Taha Resid; Alan, Murat; Sanci, Muzaffer; Koc, Altug |
Report |
Jan 1, 2019 |
3944 |
| Avian Influenza A(H9N2) Virus in Poultry Worker, Pakistan, 2015. |
Ali, Muzaffar; Yaqub, Tahir; Mukhtar, Nadia; Imran, Muhammad; Ghafoor, Aamir; Shahid, Muhammad Furqa |
Report |
Jan 1, 2019 |
2607 |
| Canine Influenza Virus A(H3N2) Clade with Antigenic Variation, China, 2016-2017. |
Lyu, Yanli; Song, Shikai; Zhou, Liwei; Bing, Guoxia; Wang, Qian; Sun, Haoran; Chen, Mingyue; Hu, Jun |
Report |
Jan 1, 2019 |
3042 |
| OVERVIEW OF MISMATCH REPAIR PATHWAY. |
Anuradha, Ananthaneni; Ramani, Pratibha; Srinivas, Guduru Vijay; Babu, Undavalli Suresh; Puneeth, H. |
Report |
Dec 17, 2018 |
4543 |
| Effect of the Point Mutation in Growth Differentiation Factor 9 Gene in Awassi Sheep Oocytes on Sterility and Fertility. |
Al-Mutar, H.; Younis, L.; Khawla, H. |
Report |
Dec 1, 2018 |
3958 |
| Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation. |
Moufid, Fatima Zahra; Bouguenouch, Laila; Bouchikhi, Ihssane El; Houssaini, Mohamed Iraqui; Ouldim, |
Case study |
Nov 1, 2018 |
1989 |
| Othman Laraki. |
|
|
Nov 1, 2018 |
363 |
| Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation. |
Moufid, Fatima Zahra; Bouguenouch, Laila; Bouchikhi, Ihssane El; Houssaini, Mohamed Iraqui; Ouldim, |
|
Nov 1, 2018 |
2126 |
| DOCTOR'S NOTE. |
|
|
Oct 10, 2018 |
175 |
| DOCTOR'S NOTE. |
|
|
Sep 22, 2018 |
177 |
| DOCTOR'S NOTE. |
|
|
Sep 20, 2018 |
175 |
| DOCTOR'S NOTE. |
|
|
Sep 18, 2018 |
175 |
| Cancer drug approved. |
|
|
Sep 18, 2018 |
143 |
| DOCTOR'S NOTE. |
|
|
Sep 18, 2018 |
177 |
| DOCTOR'S NOTE HUNDREDS of patients [...]. |
|
|
Sep 18, 2018 |
177 |
| DOCTOR'S NOTE. |
|
|
Sep 18, 2018 |
175 |
| DOCTOR'S NOTE. |
|
|
Sep 18, 2018 |
175 |
| A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young. |
Acar, Sezer; Abaci, Ayhan; Demir, Korcan; Ozdemir, Taha Resid; Ozyilmaz, Berk; Bober, Ece |
Clinical report |
Sep 1, 2018 |
2332 |
| Does hormone therapy increase breast cancer risk in BRCA1 mutation carriers? |
|
Clinical report |
Jul 1, 2018 |
1003 |
| Molecular Testing in Lung Cancer: Where to Draw the Line? |
Halmos, Balazs |
Report |
Jul 1, 2018 |
2487 |
| BRAF Adds an Additional Piece of the Puzzle to Precision Oncology-Based Treatment Strategies in Lung Cancer. |
Planchard, David; Johnson, Bruce E. |
Report |
Jul 1, 2018 |
1941 |
| Oophorectomy for premenopausal breast cancer. |
Rossi, Emma |
|
Jun 1, 2018 |
1414 |
| Sensitive NPM1 Mutation Quantitation in Acute Myeloid Leukemia Using Ultradeep Next-Generation Sequencing in the Diagnostic Laboratory. |
Blombery, Piers; Jones, Kate; Ryland, Georgina; McBean, Michelle; Thompson, Ella; Yannakou, Costas K |
Report |
May 1, 2018 |
5683 |
| Adults with congenital heart defects at high risk of gland cancer. |
|
|
Apr 3, 2018 |
353 |
| Adults with congenital heart defects at high risk of gland cancer. |
|
|
Apr 3, 2018 |
412 |
| Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease/Heterogeneidad clinica y mutacional en pacientes colombianos con Pelizaeus Merzbacher. |
Parra, Harvy Mauricio Velasco; Anaya, Silvia Juliana Maradei; Guio, Johanna Carolina Acosta; Diaz, C |
|
Apr 1, 2018 |
4064 |
| Adults with congenital heart defects at high risk of gland cancer. |
|
|
Mar 29, 2018 |
410 |
| Meningiomas--insights into genetics and correlations with histological features. |
Grigoras, Adriana; Riscanu, Laura; Amalinei, Cornelia |
Report |
Mar 1, 2018 |
5523 |
| Time to spread good news about cancer; ADVERTISING FEATURE. |
|
|
Feb 5, 2018 |
742 |
| Breast cancer gene does not boost risk of death: study. |
|
|
Jan 12, 2018 |
426 |
| CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations. |
Karimi, Nasibeh; Alibakhshi, Reza; Almasi, Shekoufeh |
Report |
Jan 1, 2018 |
4337 |
| Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region. |
Dimishkovska, Marija; Kotori, Vjosa Mulliqi; Gucev, Zoran; Kocheva, Svetlana; Polenakovic, Momir; Pl |
Report |
Jan 1, 2018 |
1539 |
| Current Status of Aedes aegypti Insecticide Resistance Development from Banjarmasin, Kalimantan, Indonesia. |
Hamid, P.H.; Ninditya, V.I.; Prastowo, J.; Haryanto, A.; Taubert, A.; Hermosilla, C. |
|
Jan 1, 2018 |
5140 |
| A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. |
Zhang, Yanni; Chen, Huishuang; Peng, Zhiyu; Banerjee, Santasree; Li, Wei; Zhao, Zhaolong; Sun, Jianb |
|
Jan 1, 2018 |
4422 |
| Mannose-Binding Lectin Gene Polymorphism and Its Association with Susceptibility to Recurrent Vulvovaginal Candidiasis. |
Hammad, Noha M.; Badawy, Nissreen E. El; Nasr, Ashraf M.; Ghramh, Hamed A.; Kady, Laila M. Al |
|
Jan 1, 2018 |
5852 |
| The Impact of CRISPR/Cas9 Technology on Cardiac Research: From Disease Modelling to Therapeutic Approaches. |
Motta, Benedetta M.; Pramstaller, Peter P.; Hicks, Andrew A.; Rossini, Alessandra |
|
Jan 1, 2018 |
11364 |
| Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation. |
Astapova, Olga; Biswas, Anindita; DiMauro, Alessandra; Moalem, Jacob; Hammes, Stephen R. |
|
Jan 1, 2018 |
2655 |
| Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia. |
Tran, Tham Thi; Van Vu, Quang; Wada, Taizo; Yachie, Akihiro; Minh, Huong Le Thi; Nguyen, Sang Ngoc |
|
Jan 1, 2018 |
2037 |
| Imaging and Histopathologic Nuances of Epithelioid Glioblastoma. |
Le, Brian H.; Close, Richard A. |
|
Jan 1, 2018 |
2241 |
| GH, IGF-1, and Age Are Important Contributors to Thyroid Abnormalities in Patients with Acromegaly. |
Wu, Xia; Gao, Lu; Guo, Xiaopeng; Wang, Qiang; Wang, Zihao; Lian, Wei; Liu, Wei; Sun, Jian; Xing, Bin |
|
Jan 1, 2018 |
5525 |
| Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk. |
Fattah, Amal Ahmed Abd El-; Sadik, Nermin Abdel Hamid; Shaker, Olfat Gamil; Kamal, Amal Mohamed |
|
Jan 1, 2018 |
16159 |
| Targeting Oxidatively Induced DNA Damage Response in Cancer: Opportunities for Novel Cancer Therapies. |
Davalli, Pierpaola; Marverti, Gaetano; Lauriola, Angela; DArca, Domenico |
|
Jan 1, 2018 |
17159 |
| A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia. |
Chu, Andrew; Aung, Thu Thu; Arumugam, Minni Shreya; Danckers, Mauricio; Mitiek, Mohi; Leslie, Jonath |
|
Jan 1, 2018 |
2124 |
| The Sources of Reactive Oxygen Species and Its Possible Role in the Pathogenesis of Parkinson's Disease. |
Weng, Minrui; Xie, Xiaoji; Liu, Chao; Lim, Kah-Leong; Zhang, Cheng-wu; Li, Lin |
|
Jan 1, 2018 |
6656 |
| Human Genetic Markers and Structural Prediction of Plasmodium falciparum Multidrug Resistance Gene (pfmdr1) for Ligand Binding in Pregnant Women Attending General Hospital Minna. |
Lawal, B.; Shittu, O.K.; Abubakar, A.; Kabiru, A.Y. |
|
Jan 1, 2018 |
7786 |
| Observed HIV drug resistance associated mutations amongst naive immunocompetent children in Yaounde, Cameroon. |
Ikomey, George Mondinde; Assoumou, Marie Claire Okomo; Gichana, Josiah Otwoma; Njenda, Duncan; Mikas |
Report |
Dec 1, 2017 |
3767 |
| Molecular Diagnostics. |
|
|
Nov 1, 2017 |
303 |
| Low yield of gastroscopy in patients with Lynch syndrome. |
Galiatsatos, Polymnia; Labos, Christopher; Jeanjean, Marie; Miller, Kyle; Foulkes, William D. |
|
Nov 1, 2017 |
2947 |
| Novel gene test might 'narrow breast cancer risk'. |
|
|
Oct 13, 2017 |
303 |
| DNA Breathing Enables Closed-Tube Mutant Allele Enrichment for Circulating Tumor DNA Analysis. |
Dobrovic, Alexander |
Editorial |
Oct 1, 2017 |
2233 |
| Identification of Single-Base Mismatches in Pneumocystis jirovecii Isolated from Iranian TB positive Patients by CSGE Heteroduplex. |
Ghayoum, Saeideh Amani; Shams-Ghahfarokhi, Masoomeh; Razzaghi-Abyaneh, Mehdi; Ghalehbin, Behnam Moha |
Report |
Sep 1, 2017 |
2933 |
| Molecular Highlighting Analysis of Mutational P27 Gene Products in Association with Human T-lymphotropic (HTLV-1) Infection in Tissues from Iraqi Patients with Non-Hodgkin's Lymphoma. |
AL-Lebawy, Noor S.; Tarrad, Jawad K.; Al-Alwany, Shakir H. |
Report |
Sep 1, 2017 |
5941 |
| Reducing Artifactual EGFR T790M Mutations in DNA from Formalin-Fixed Paraffin-Embedded Tissue by Use of Thymine-DNA Glycosylase. |
Do, Hongdo; Molania, Ramyar; Mitchell, Paul L.; Vaiskunaite, Rita; Murdoch, John D.; Dobrovic, Alexa |
Report |
Sep 1, 2017 |
5545 |
| Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years. |
Wang, Wei-Yan; Sun, Yi; Zhao, Wen-Ting; Wu, Tai; Wang, Liang; Yuan, Tian-Ming; Yu, Hui-Min |
Report |
Sep 1, 2017 |
5120 |
| Clinical and Genetic Findings of Turkish Hypophosphatasia Cases. |
Saglam, Halil; Erdol, Sahin; Dorum, Sevil |
Report |
Sep 1, 2017 |
5692 |
| A Novel Gap Junction Alpha 8 (GJA8) Mutation Associated with a Congenital Cataract Patient in Pakistan. |
Zahid, Ayesha; Muazzam, Ammara; Mustafa, Sidra; Irshad, Saba; Mahmood, Malik Siddique; Shahzad, Rehm |
Report |
Aug 31, 2017 |
2680 |
| When to tell children at risk of faulty gene. |
|
|
Aug 15, 2017 |
417 |
| When to tell children at risk of faulty gene. |
|
|
Aug 15, 2017 |
417 |
| Cyprus-linked genetic mutation causing breast and ovarian cancer identified. |
|
Disease/Disorder overview |
Jun 28, 2017 |
674 |
| The Genetic Mutation That Makes You More Prone To Colds. |
|
|
Jun 28, 2017 |
478 |
| A Male Case of Aromatase Deficiency with a Novel CYP19A1 Mutation. |
Abur, Ummet; Atmaca, Aysegul; Scott, Hamish; Gagliardi, Lucia; Altundag, Engin; Akar, Omer Salih; Ba |
Clinical report |
Jun 1, 2017 |
351 |
| CYP11A1 Mutations Result in Various Clinical Phenotypes. |
Guven, Ayla; Buonocore, Federica; Achermann, John; Guran, Tulay |
Report |
Jun 1, 2017 |
578 |
| Heterozygous p.D61G Mutation in a Patient with Noonan Syndrome. |
Korkmaz, Huseyin Anil |
Brief article |
Jun 1, 2017 |
248 |
| A New Mutation in an Infant with Hypercalcemia. |
Gunes, Sevinc Odabasi; Ergur, Ayca Torel |
Brief article |
Jun 1, 2017 |
279 |
| A Case of MEN 2A: D631Y Mutation. |
Yurekli, Banu Sarer; Ozisik, Hatice; Kutbay, Nilufer Ozdemir; Onay, Huseyin; Ozgen, Gokhan |
Author abstract |
Jun 1, 2017 |
308 |
| PTPN11, SOS1, and BRAF Gene Mutation Spectrum in RASopathies in Molecular Diagnosis. |
Asikovali, Semih; Aykut, Ayca; Durmaz, Asude; Onay, Huseyin; Hazan, Filiz; Ozen, Samim; Atik, Tahir; |
Author abstract |
Jun 1, 2017 |
383 |
| Impact of CYP21A2 Gene Mutations on Clinical Management of Congenital Adrenal Hyperplasia. |
Sanri, Aslihan; Ozyilmaz, Berk; Albayrak, Hatice Mutlu; Altundag, Engin; Alpaslan, Mediniye Karadag; |
Author abstract |
Jun 1, 2017 |
318 |
| Six 11-Beta Hydroxylase Deficiency Patients: Identification of Two Novel Mutations. |
Onay, Huseyin; Isik, Esra; Ozen, Samim; Kavasoglu, Ayse Nur; Simsir, Ilgin Yildirim; Atik, Tahir; Yu |
Author abstract |
Jun 1, 2017 |
249 |
| 17-Hydroxylase Deficiency: Rare Cause of Delayed Puberty. |
Guven, Ayla; Guran, Tulay; Krone, Nils |
Author abstract |
Jun 1, 2017 |
338 |
| Hyperandrogenism and Skeletal Dysplasia: Evaluation of 7 Patients with PAPSS2 Gene Mutation. |
Alkaya, Dilek Uludag; Yilmaz, Saliha; Evliyaoglu, Olcay; Bilguvar, Kaya; Gunel, Murat; Tuysuz, Beyha |
Author abstract |
Jun 1, 2017 |
364 |
| Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. |
Akkus, Gamze; Kotan, Leman Damla; Durmaz, Erdem; Mengen, Eda; Turan, Ihsan; Ulubay, Ayca; Gurbuz, Fa |
Report |
Jun 1, 2017 |
3493 |
| A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract. |
Mynampati, Bharani K.; Muthukumarappa, Thungapathra; Ghosh, Sujata; Ram, Jagat |
Report |
May 1, 2017 |
3905 |
| K-RAS and N-RAS mutations in testicular germ cell tumors. |
Hacioglu, Bekir Muhammet; Kodaz, Hilmi; Erdogan, Bulent; Cinkaya, Ahmet; Tastekin, Ebru; Hacibekirog |
Report |
May 1, 2017 |
3522 |
| pncA gene mutations associated with pyrazinamide resistance in drug-resistant tuberculosis, South Africa and Georgia. |
Allana, Salim; Shashkina, Elena; Mathema, Barun; Bablishvili, Nino; Tukvadze, Nestani; Shah, N. Sari |
|
Mar 1, 2017 |
3416 |
| Genomic Analysis in the Practice of Surgical Neuropathology: The Emory Experience. |
Neill, Stewart G.; Saxe, Debra F.; Rossi, Michael R.; Schniederjan, Matthew J.; Brat, Daniel J. |
Report |
Mar 1, 2017 |
8280 |
| BRCA1 gene is critical for blood forming stem cells. |
|
|
Feb 13, 2017 |
357 |
| Next Generation Sequencing of Circulating Cell-Free DNA for Evaluating Mutations and Gene Amplification in Metastatic Breast Cancer. |
Page, Karen; Guttery, David S.; Fernandez-Garcia, Daniel; Hills, Allison; Hastings, Robert K.; Luo, |
Report |
Feb 1, 2017 |
5875 |
| Genomic Profiling of Thyroid Nodules: Current Role for ThyroSeq Next-Generation Sequencing on Clinical Decision-Making/Tiroid Nodulu Genomik Profillemesi: ThyroSeq Yeni-Nesil Dizinlemenin Klinik Karar Verme Uzerinde Guncel Rolu. |
Kargi, Atil Y.; Bustamante, Marcela Perez; Gulec, Seza |
Report |
Feb 1, 2017 |
8318 |
| Whole-Exome Sequencing-Based Mutational Profiling of Hepatitis B Virus-Related Early-Stage Hepatocellular Carcinoma. |
Zhan, Hao; Jiang, Jiahao; Sun, Qiman; Ke, Aiwu; Hu, Jinwu; Hu, Zhiqiang; Zhu, Kai; Luo, Chubin; Ren, |
Report |
Jan 1, 2017 |
4054 |
| Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis. |
Kantor, Micaella; Sobrado, Javier; Patel, Sima; Eiseler, Sara; Ochner, Christopher |
Report |
Jan 1, 2017 |
3263 |
| The Differential Role of Human Cationic Trypsinogen (PRSS1) p.R122H Mutation in Hereditary and Nonhereditary Chronic Pancreatitis: A Systematic Review and Meta-Analysis. |
Hu, Cheng; Wen, Li; Deng, Lihui; Zhang, Chenlong; Lugea, Aurelia; Su, Hsin-Yuan; Waldron, Richard T. |
Report |
Jan 1, 2017 |
5019 |
| Cancer Is to Embryology as Mutation Is to Genetics: Hypothesis of the Cancer as Embryological Phenomenon. |
Cofre, Jaime; Abdelhay, Eliana |
Report |
Jan 1, 2017 |
13931 |
| Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. |
Gao, Xue; Huang, Sha-Sha; Yuan, Yong-Yi; Xu, Jin-Cao; Gu, Ping; Bai, Dan; Kang, Dong-Yang; Han, Ming |
Report |
Jan 1, 2017 |
5913 |
| Small Intestinal Bacterial Overgrowth Affects the Responsiveness to Colchicine in Familial Mediterranean Fever. |
Verrecchia, E.; Sicignano, L.L.; La Regina, M.; Nucera, G.; Patisso, I.; Cerrito, L.; Montalto, M.; |
Report |
Jan 1, 2017 |
3580 |
| Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome. |
Cortelazzo, Alessio; De Felice, Claudio; De Filippis, Bianca; Ricceri, Laura; Laviola, Giovanni; Leo |
Report |
Jan 1, 2017 |
6835 |
| Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review. |
Wu, Jing; Wang, Wei-Fan; Zhang, Yi-Dan; Chen, Tong-Xin |
|
Jan 1, 2017 |
12688 |
| Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients. |
Zhang, Yinan; Du, Xiujuan; Geng, Xinqian; Chu, Chen; Lu, Huijuan; Shen, Yixie; Chen, Ruihua; Fang, P |
Report |
Jan 1, 2017 |
3801 |
| The Predictive Value of PITX2 DNA Methylation for High-Risk Breast Cancer Therapy: Current Guidelines, Medical Needs, and Challenges. |
Aubele, Michaela; Schmitt, Manfred; Napieralski, Rudolf; Paepke, Stefan; Ettl, Johannes; Absmaier, M |
Report |
Jan 1, 2017 |
9812 |
| Resistance to mTORC1 Inhibitors in Cancer Therapy: From Kinase Mutations to Intratumoral Heterogeneity of Kinase Activity. |
Faes, Seraina; Demartines, Nicolas; Dormond, Olivier |
Report |
Jan 1, 2017 |
7804 |
| Multifaceted Roles of GSK-3 in Cancer and Autophagy-Related Diseases. |
Mancinelli, Romina; Carpino, Guido; Petrungaro, Simonetta; Mammola, Caterina Loredana; Tomaipitinca, |
Report |
Jan 1, 2017 |
11117 |
| Mitochondrial Transfer from Wharton's Jelly Mesenchymal Stem Cell to MERRF Cybrid Reduces Oxidative Stress and Improves Mitochondrial Bioenergetics. |
Chuang, Yao-Chung; Liou, Chia-Wei; Chen, Shang-Der; Wang, Pei-Wen; Chuang, Jiin- Haur; Tiao, Mao-Men |
Report |
Jan 1, 2017 |
9012 |
| Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis. |
Sazonova, Margarita A.; Sinyov, Vasily V.; Ryzhkova, Anastasia I.; Galitsyna, Elena V.; Khasanova, Z |
Report |
Jan 1, 2017 |
4328 |
| Genome-Wide Profiling Reveals That Herbal Medicine Jinfukang-Induced Polyadenylation Alteration Is Involved in Anti-Lung Cancer Activity. |
Kou, Yao; Li, Guoqing; Shao, Jinhui; Liu, Cong; Wu, Jun; Lu, Jun; Zhao, Xiaodong; Tian, Jing |
Report |
Jan 1, 2017 |
4095 |
| LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease. |
Bouhouche, Ahmed; Tibar, Houyam; Haj, Rafiqua Ben El; Bayad, Khalil El; Razine, Rachid; Tazrou, Sana |
Report |
Jan 1, 2017 |
4787 |
| Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease. |
He, Ya-Chao; Huang, Pei; Li, Qiong-Qiong; Sun, Qian; Li, Dun-Hui; Wang, Tian; Shen, Jun-Yi; Du, Juan |
Report |
Jan 1, 2017 |
3328 |
| A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism. |
Alfaraidi, Lama; Alfaifi, Abrar; Alquaiz, Rawan; Almijmaj, Faten; Mawlawi, Horia |
Clinical report |
Jan 1, 2017 |
1912 |
| Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. |
Nguyen, Thi Kim Lien; Pham, Van Dem; Nguyen, Thu Huong; Pham, Trung Kien; Nguyen, Thi Quynh Huong; N |
Clinical report |
Jan 1, 2017 |
4663 |
| SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities. |
Zech, Michael; Poustka, Katharina; Boesch, Sylvia; Berutti, Riccardo; Strom, Tim M.; Grisold, Wolfga |
Clinical report |
Jan 1, 2017 |
3626 |
| Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies. |
Bloor, Samuel; Giri, Dinesh; Didi, Mohammed; Senniappan, Senthil |
Clinical report |
Jan 1, 2017 |
2835 |
| FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? |
Mendieta-Zeron, Hugo; Jimenez-Rosales, Angelica; Perez-Amado, Carlos Jhovani; Jimenez-Morales, Silvi |
Clinical report |
Jan 1, 2017 |
4721 |
| Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly. |
Naud, Marie-Emmanuelle; Tosca, Lucie; Martinovic, Jelena; Saada, Julien; Metay, Corinne; Drevillon, |
Clinical report |
Jan 1, 2017 |
3051 |
| A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. |
Whittington, Julie R.; Poole, Aaron T.; Dutta, Eryn H.; Munn, Mary B. |
Clinical report |
Jan 1, 2017 |
1124 |
| Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes. |
Akarcan, Sanem Eren; Karaca, Neslihan; Aksu, Guzide; Bozkaya, Halil; Ayik, Mehmet Fatih; Sahan, Yase |
Clinical report |
Jan 1, 2017 |
4686 |
| Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. |
Akarcan, Sanem Eren; Severcan, Ezgi Ulusoy; Karaca, Neslihan Edeer; Isik, Esra; Aksu, Guzide; Migaud |
Clinical report |
Jan 1, 2017 |
3393 |
| Are All Mutations the Same? A Rare Case Report of Coexisting Mutually Exclusive KRAS and BRAF Mutations in a Patient with Metastatic Colon Adenocarcinoma. |
Vittal, Anusha; Middinti, Akshay; Kumar, Anup Kasi Loknath |
Clinical report |
Jan 1, 2017 |
2259 |
| Uncommon BRAF Mutations Associated with Durable Response to Immunotherapy in Patients with Metastatic Melanoma. |
Swofford, Brenen P.; Homsi, Jade |
Report |
Jan 1, 2017 |
2178 |
| Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families. |
Fermo, Elisa; Vercellati, Cristina; Marcello, Anna Paola; Zaninoni, Anna; van Wijk, Richard; Mirra, |
Clinical report |
Jan 1, 2017 |
4472 |
| Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. |
Okolo, Onyemaechi N.; Katsanis, Emmanuel; Yun, Seongseok; Reveles, Candace Y.; Anwer, Faiz |
Clinical report |
Jan 1, 2017 |
4175 |
| Ponatinib as a Valid Alternative Strategy in Patients with Blast Crisis-Chronic Myeloid Leukemia Not Eligible for Allogeneic Stem Cells Transplantation and/or Conventional Chemotherapy: Report of a Case. |
Bucelli, Cristina; Cattaneo, Daniele; Ferla, Valeria; Zappa, Manuela; de Benedittis, Caterina; Sover |
Clinical report |
Jan 1, 2017 |
2958 |
| Chronic Myeloid Leukemia with an e6a2 BCR-ABL1 Fusion Transcript: Cooperating Mutations at Blast Crisis and Molecular Monitoring. |
Crampe, Mireille; Haslam, Karl; Groarke, Emma; Kelleher, Eileen; O'Shea, Derville; Conneally, Eibhli |
Report |
Jan 1, 2017 |
3031 |
| Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. |
Ahmed, Amna; Alsaleem, Badr |
Clinical report |
Jan 1, 2017 |
1082 |
| HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation. |
Kim, Ji-Yon; Woo, So-Youn; Hong, Young Bin; Choi, Heesun; Kim, Jisoo; Choi, Hyunjung; Mook-Jung, Inh |
Report |
Jan 1, 2017 |
5803 |
| The Role of BRCA2 Mutation Status as Diagnostic, Predictive, and Prognosis Biomarker for Pancreatic Cancer. |
Martinez-Useros, Javier; Garcia-Foncillas, Jesus |
Report |
Jan 1, 2017 |
4927 |
| Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity. |
Li, Linhua; Ye, Yujia; Sang, Peng; Yin, Yirui; Hu, Wei; Wang, Jing; Zhang, Chao; Li, Deyun; Wan, Wen |
Report |
Jan 1, 2017 |
4819 |
| Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. |
Gao, Xue; Yuan, Yong-Yi; Wang, Guo-Jian; Xu, Jin-Cao; Su, Yu; Lin, Xi; Dai, Pu |
Report |
Jan 1, 2017 |
4858 |
| CYP2C19*2 Polymorphism in Chilean Patients with In-Stent Restenosis Development and Controls. |
Ruedlinger, Jenny; Prado, Yalena; Zambrano, Tomas; Saavedra, Nicolas; Bobadilla, Braulio; Potthoff, |
Report |
Jan 1, 2017 |
4586 |
| Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation. |
Gu, Chongjuan; Yang, Zhao; Tan, Hao; Zhang, Yingying; Lu, Yilu; Ma, Yongxin |
Report |
Jan 1, 2017 |
4723 |
| Combination Treatment with PPAR[gamma] Ligand and Its Specific Inhibitor GW9662 Downregulates BIS and 14-3-3 Gamma, Inhibiting Stem-Like Properties in Glioblastoma Cells. |
Im, Chang-Nim |
Report |
Jan 1, 2017 |
4777 |
| NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL. |
Irtyuga, Olga; Malashicheva, Anna; Zhiduleva, Ekaterina; Freylikhman, Olga; Rotar, Oxana; Back, Magn |
Report |
Jan 1, 2017 |
6774 |
| Genetic and Epigenetic Regulation of Aortic Aneurysms. |
Kim, Ha Won; Stansfield, Brian K. |
Report |
Jan 1, 2017 |
10651 |
| The Hedgehog Signaling Networks in Lung Cancer: The Mechanisms and Roles in Tumor Progression and Implications for Cancer Therapy. |
Abe, Yoshinori; Tanaka, Nobuyuki |
Report |
Jan 1, 2017 |
7371 |
| Expression, Mutation, and Amplification Status of EGFR and Its Correlation with Five miRNAs in Salivary Gland Tumours. |
Bostjancic, Emanuela; Hauptman, Nina; Groselj, Ales; Glavac, Damjan; Volavsek, Metka |
Report |
Jan 1, 2017 |
7209 |
| Genetic Mutations and Epigenetic Modifications: Driving Cancer and Informing Precision Medicine. |
Coyle, Krysta Mila; Boudreau, Jeanette E.; Marcato, Paola |
Report |
Jan 1, 2017 |
14511 |
| In Utero exposure to benzo[a]pyrene increases mutation burden in the soma and sperm of adult mice. |
Meier, Matthew J.; O'Brien, Jason M.; Beal, Marc A.; Allan, Beverly; Yauk, Carole L.; Marchetti, Fra |
Report |
Jan 1, 2017 |
6486 |
| p53 expression in benign, premalignant and malignant lesions of oral cavity. |
Pradhan, Swayam Prava; Choudhury, Sulata; Dash, Anusuya; Mishra, D.P.; Abhilash, N.P. |
Report |
Dec 15, 2016 |
2734 |
| Psychocutaneous disorders and the quality of life in neurofibromatosis type 1 (von Recklinghausen). |
Solovastru, Laura Gheuca; Patrascu, Adriana-Ionela; Stincanu, Alina; Andrese, Elena; Grajdeanu, Ioan |
Report |
Dec 1, 2016 |
2310 |
| Cigarettes cause telltale DNA damage: patterns of cancer mutations differ in smokers and nonsmokers. |
Ehrenberg, Rachel |
|
Nov 26, 2016 |
819 |
| Mitogen-Activated Protein Kinase Signaling Pathway in Cutaneous Melanoma: An Updated Review. |
Acosta, Andres Martin; Kadkol, ShriHari S. |
Report |
Nov 1, 2016 |
4843 |
| Effects of tributyltin chloride on cybrids with or without an ATP synthase pathologic mutation. |
Lopez-Gallardo, Ester; Llobe, Laura; Emperador, Sonia; Montoya, Julio; Ruiz-Pesini, Eduardo |
Report |
Sep 1, 2016 |
6537 |
| Isolated thrombosis of right spermatic vein with underlying Factor V Leiden mutation. |
Bolat, Deniz; Gunlusoy, Bulent; Yarimoglu, Serkan; Ozsinan, Funda; Solmaz, Serife; Imamoglu, Fatma G |
Case study |
Sep 1, 2016 |
1502 |
| Considering hysterectomy in women with BRCA1 mutations. |
Leath, Charles A.; Huh, Warner K.; Alvarez, Ronald D. |
|
Aug 1, 2016 |
262 |
| Women with BRCA1 gene mutation at higher risk of deadly uterine cancer. |
|
|
Aug 1, 2016 |
384 |
| Newly identified mutation in NSCLC suggests novel treatment option. |
|
|
Jul 31, 2016 |
600 |
| Extensive variation in drug-resistance mutational profile of Brazilian patients failing antiretroviral therapy in five large Brazilian cities. |
Brites, Carlos; Pinto-Neto, Lauro; Medeiros, Melissa; Nunes, Estevao; Sprinz, Eduardo; Carvalho, Mar |
Report |
Jul 1, 2016 |
4210 |
| A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism. |
Zheng, Xiao; Ma, Shao-Gang; Qiu, Ya-Li; Guo, Man-Li; Shao, Xiao-Juan |
Case study |
Jun 1, 2016 |
2339 |
| Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing. |
Lyu, Nan; Guan, Li-Li; Ma, Hong; Wang, Xi-Jin; Wu, Bao-Ming; Shang, Fan-Hong; Wang, Dan; Wen, Hong; |
Report |
Jun 1, 2016 |
4155 |
| Test run finds no cancer risk from stem cell therapy. |
|
|
May 9, 2016 |
549 |
| Plasmodium falciparum K76T pfcrt gene mutations and parasite population structure, Haiti, 2006-2009. |
Charles, Macarthur; Das, Sanchita; Daniels, Rachel; Kirkman, Laura; Delva, Glavdia G.; Destine, Rodn |
|
May 1, 2016 |
4513 |
| What are the causes and outcomes of the coexistence of HBsAg and anti-HBs? |
Afyon, Murat |
Letter to the editor |
May 1, 2016 |
765 |
| 'Selfish' DNA flouts rules of inheritance: although harmful, R2d2 can sweep through mouse populations. |
Saey, Tina Hesman |
|
Mar 19, 2016 |
782 |
| Prevalence of mutations in HBV DNA polymerase gene associated with nucleos(t)ide resistance in treatment-naive patients with Chronic Hepatitis B in Central China. |
Zhao, Youyun; Wu, Jianhua; Liu, Lijun SuncGuangzhong; Li, Bo; Zheng, Yi; Li, Xiaodong; Tao, Junxiu |
Report |
Mar 1, 2016 |
3953 |
| Next-Generation Sequencing and Immunotherapy Biomarkers: A Medical Oncology Perspective. |
Bernicker, Eric |
|
Mar 1, 2016 |
4172 |
| A fuzzy logic expert system for the prediction of breast cancer. |
Ogunleye, Gabriel Opeyemi; Fashoto, Stephen Gbenga; Weje, Emmanuel |
Report |
Feb 1, 2016 |
5417 |
| Early ALS treatment. |
|
|
Feb 1, 2016 |
436 |
| Arsenic and latent disease risk: what's the mechanism of action? |
Potera, Carol |
|
Feb 1, 2016 |
889 |
| Mutations in the S gene and in the overlapping reverse transcriptase region in chronic hepatitis B Chinese patients with coexistence of HBsAg and anti-HBs. |
Ding, Feng; Miao, Xi-Li; Li, Yan-Xia; Dai, Jin-Fen; Yu, Hong-Gang |
Report |
Jan 1, 2016 |
4627 |
| TP53 mutations and survival in osteosarcoma patients: a meta-analysis of published data. |
Chen, Zhe; Guo, Jiayi; Zhang, Kun; Guo, Yanxing |
Report |
Jan 1, 2016 |
3462 |
| Contribution of BRCA1 and BRCA2 germline mutations to early Algerian breast cancer. |
Henouda, Sarra; Bensalem, Assia; Reggad, Rym; Serrar, Nedda; Rouabah, Leila; Pujol, Pascal |
Report |
Jan 1, 2016 |
4750 |
| Molecular biomarkers in bladder cancer: novel potential indicators of prognosis and treatment outcomes. |
Nagata, Masayoshi; Muto, Satoru; Horie, Shigeo |
Report |
Jan 1, 2016 |
4089 |
| Gene catalog will improve diagnosis: new dataset can help identify mutations that cause disease. |
Saey, Tina Hesman |
|
Dec 12, 2015 |
867 |
| Recessives from both parents can be Lethal. |
|
Brief article |
Dec 1, 2015 |
296 |
| Hereditary Transthyretin Amyloidosis in Eight Chinese Families. |
Meng, Ling-Chao; Lyu, He; Zhang, Wei; Liu, Jing; Wang, Zhao-Xia; Yuan, Yun |
Report |
Nov 1, 2015 |
2562 |
| DNA varies from neuron to neuron: neighboring nerve cells can have distinct genetic makeups. |
Sanders, Laura |
|
Oct 31, 2015 |
530 |
| Rosetta Genomics unveils BRAF Mutation Assay molecular test for personalised cancer therapy. |
|
|
Oct 13, 2015 |
183 |
| Rosetta Genomics unveils BRAF Mutation Assay molecular test for personalised cancer therapy. |
|
|
Oct 13, 2015 |
179 |
| Myocyte Enhancer Factor-2A Gene Mutation and Coronary Artery Disease. |
Jiang, Ying; Liu, Hong-Bin |
Viewpoint essay |
Oct 5, 2015 |
3565 |
| IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family. |
Li-Yang, Mei-Na; Shen, Xiao-Fei; Wei, Qin-Jun; Yao, Jun; Lu, Ya-Jie; Cao, Xin; Xing, Guang-Qian |
Report |
Sep 20, 2015 |
3082 |
| Genomics-based Approach and Prognostic Stratification Significance of Gene Mutations in Intermediate-risk Acute Myeloid Leukemia. |
Wang, Bian-Hong; Li, Yong-Hui; Yu, Li |
Report |
Sep 5, 2015 |
7597 |
| The role of mediterranean fever mutation in the clinical course and pathogenesis of ankylosing spondylitis. |
Ozdemirel, Ali Erhan; Erdem, Hatice Rana; Nacir, Baris; Karagoz, Aynur |
|
Sep 1, 2015 |
6188 |
| Hyperimmunoglobulin D syndrome: case report. |
Sen, Hacer; Silan, Fatma; Binnetoglu, Emine; Gunes, Fahri; Akurut, Cisem; Uludag, Ahmet; Ozdemir, Oz |
|
Sep 1, 2015 |
1451 |
| Trends in lung cancer molecular testing. |
Smolkin, Matthew B.; Almubarak, Mohammed; Perrotta, Peter L. |
Report |
Sep 1, 2015 |
3463 |
| A glycoprotein E gene-deleted bovine herpesvirus 1 as a candidate vaccine strain. |
Weiss, M.; Brum, M.C.S.; Anziliero, D.; Weiblen, R.; Flores, E.F. |
Report |
Sep 1, 2015 |
5809 |
| Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias. |
Chen, Jian-Wen; Zhao, Li; Zhang, Feng; Li, Lan; Gu, Yu-Hang; Zhou, Jing-Yuan; Zhang, Hui; Meng, Ming |
Report |
Jul 5, 2015 |
4198 |
| Familial exudative vitreoretinopathy/Ailevi eksudatif vitreoretinopati. |
Sizmaz, Selcuk; Yonekawa, Yoshihiro; Trese, Michael T. |
Report |
Jul 1, 2015 |
2952 |
| High prevalence of Y chromosome partial microdeletions in overweight men. |
Zak, Atefeh Biabangard; Golalipour, Masoud; Hadadchi, Gholamreza |
Report |
Jul 1, 2015 |
2585 |
| Drug resistance--associated mutations in Mycoplasma genitalium in female sex workers, Japan. |
Deguchi, Takashi; Yasuda, Mitsuru; Horie, Kengo; Seike, Kensaku; Kikuchi, Mina; Mizutani, Kohsuke; T |
Report |
Jun 1, 2015 |
2189 |
| Pinpointing true cancer mutations: to clarify tumor culprits, study healthy and diseased samples. |
Seppa, Nathan |
|
May 16, 2015 |
503 |
| Chromosomal aberrations in patients with synchronous breast cancer and gall bladder diseases. |
Chaudhary, Devendra; Ahluwalia, Rahul; Rai, Arvind |
Case study |
Apr 16, 2015 |
2845 |
| A novel mutation causing 17-[beta]-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature. |
Sinani, Aisha Al-; Mula-Abed, Waad-Allah; Kindi, Manal Al-; Kusaibi, Ghariba Al-; Azkawi, Hanan Al-; |
Clinical report |
Mar 1, 2015 |
3555 |
| Novel mutation in Wolcott-Rallison syndrome with variable expression in two Omani siblings. |
Sinani, Siham Al-; Yaarubi, Saif Al-; Sharef, S.W.; Murshedi, Fathyia Al-; Maamari, Watfa Al- |
Clinical report |
Mar 1, 2015 |
2251 |
| MOST CANCERS ARE DOWN TO BAD LUCK ...NOT LIFESTYLES; DNA mutations 'largely to blame'. |
|
|
Jan 2, 2015 |
452 |
| Detection of point mutation in Plasmodium falciparum ATPase6 gene associated with artemisinin resistance from Assam and Arunachal Pradesh. |
Sharma, Jitendra; Dutta, Prafulla; Khan, S.A.; Soni, Monika; Mahanta, Jagadish |
Report |
Dec 1, 2014 |
2731 |
| A Gene's eye view of health as buying time. |
|
|
Nov 1, 2014 |
1002 |
| Epidermal growth factor receptor (EGFR) mutations in lung cancer: preclinical and clinical data. |
Jorge, S.E.D.C.; Kobayashi, S.S.; Costa, D.B. |
Report |
Nov 1, 2014 |
7670 |
| Are people with cancer just unlucky? |
|
Brief article |
Sep 22, 2014 |
188 |
| Leukemia and a link to Down syndrome. |
|
Brief article |
Sep 22, 2014 |
219 |
| Smoking affects white blood cells and cancer. |
|
Brief article |
Sep 22, 2014 |
126 |
| Clinical characteristics of first venous thrombosis among women under and over 45 years of age/Klinicke karakteristike prve venske tromboze kod mladih zena i onih starijih od 45 godina. |
Kovac, Mirjana; Mikovic, Zeljko; Mandic, Vesna; Radojkovic, Dragica; Corcevic, Valentina; Mitic, Gor |
Report |
Sep 1, 2014 |
3785 |
| Molecular profiling of appendiceal epithelial tumors using massively parallel sequencing to identify somatic mutations. |
Liu, Xiaoying; Mody, Kabir; de Abreu, Francine B.; Pipas, J. Marc; Peterson, Jason D.; Gallagher, To |
Report |
Jul 1, 2014 |
3752 |
| Gene mutation in smokers boosts lung cancer risk. |
|
|
Jun 2, 2014 |
464 |
| Mediterranean fever gene mutations and messenger ribonucleic acid expressions in pediatric patients with Familial Mediterranean fever in the Trakya region of Turkey. |
Tozkir, Hilmi; Gurkan, Hakan; Ozkayin, Nese; Sut, Necdet |
Clinical report |
Jun 1, 2014 |
4656 |
| Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis--a single-centre experience. |
Binczak-Kuleta, Agnieszka; Rubik, Jacek; Litwin, Mieczyslaw; Ryder, Malgorzata; Lewandowska, Klaudyn |
Report |
May 1, 2014 |
3624 |
| Piebaldism in a 3-month-old infant--case report/ piebaldizam tromesecnog odoj?eta--prikaz slucaja. |
Milankov, Olgica; Savic, Radojica; Radulovic, Anica |
Case study |
Mar 1, 2014 |
797 |
| JOURNAL ABSTRACTS Migraine. |
|
|
Jan 1, 2014 |
2353 |
| Vitamin D and Autism. |
|
|
Jan 1, 2014 |
2480 |
| K-ras mutational status in cytohistological tissue as a molecular marker for the diagnosis of pancreatic cancer: a systematic review and meta-analysis. |
Yang, Jing; Li, Jingjing; Zhu, Rong; Zhang, Huawei; Zheng, Yuanyuan; Dai, Weiqi; Wang, Fan; Shen, Mi |
Report |
Jan 1, 2014 |
6858 |
| Report of a novel mutation in MLH1 gene in a Hispanic family from Puerto Rico fulfilling classic Amsterdam criteria for Lynch syndrome. |
Marques-Lespier, Juan M.; Diaz-Algorri, Yaritza; Gonzalez-Pons, Maria; Cruz-Correa, Marcia |
Report |
Jan 1, 2014 |
4458 |
| Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome. |
Signorini, Cinzia; Leoncini, Silvia; De Felice, Claudio; Pecorelli, Alessandra; Meloni, Ilaria; Aria |
Report |
Jan 1, 2014 |
6717 |
