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Title Author Type Date Words
Coronavirus strain mutation no cause for alarm, scientists say. Aug 19, 2020 897
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
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
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
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
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
Placental Ageing in Adverse Pregnancy Outcomes: Telomere Shortening, Cell Senescence, and Mitochondrial Dysfunction. Manna, Samprikta; McCarthy, Cathal; McCarthy, Fergus P. Jun 30, 2019 8992
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
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
Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer. Mamidi, Tarun Karthik Kumar; Wu, Jiande; Hicks, Chindo Apr 30, 2019 7494
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Women with BRCA1 gene mutation at higher risk of deadly uterine cancer. Aug 1, 2016 384
Considering hysterectomy in women with BRCA1 mutations. Leath, Charles A.; Huh, Warner K.; Alvarez, Ronald D. Aug 1, 2016 262
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
Top news stories trending online. Brief article Jan 1, 2016 169
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
Frequency of KIT mutation in gastrointestinal stromal tumors according to histologic and immunohistochemical findings, the first report from Iran. Geramizadeh, Bita; Jowkar, Zahra; Ranjbar, Zeinab Report Jul 1, 2015 2794
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
High-resolution imaging of patients with Bietti crystalline dystrophy with CYP4V2 mutation. Gocho, Kiyoko; Kameya, Shuhei; Akeo, Keiichiro; Kikuchi, Sachiko; Usui, Ayumi; Yamaki, Kunihiko; Hay Report Jan 1, 2014 4662
Spectral analysis of EEG in familial Alzheimer's disease with E280A presenilin-1 mutation gene. Rodriguez, Rene; Lopera, Francisco; Alvarez, Alfredo; Fernandez, Yuriem; Galan, Lidice; Quiroz, Yake Report Jan 1, 2014 6650
Conservation/mutation in the splice sites of cytokine receptor genes of mouse and human. Calvello, Rosa; Cianciulli, Antonia; Panaro, Maria Antonietta Report Jan 1, 2014 7358
Multipyrene tandem probes for point mutations detection in DNA. Kholodar, Svetlana A.; Novopashina, Darya S.; Meschaninova, Mariya I.; Venyaminova, Alya G. Report Jan 1, 2014 7692
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
Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer. Shinmura, Kazuya; Goto, Masanori; Tao, Hong; Kato, Hisami; Suzuki, Rie; Nakamura, Satoki; Matsuda, T Report Jan 1, 2014 7561
Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes. He, Quan; Harris, Nicole; Ren, Jun; Han, Xianlin Report Jan 1, 2014 5557
JOURNAL ABSTRACTS Migraine. Jan 1, 2014 2353
Vitamin D and Autism. Jan 1, 2014 2480
Prion mutation yields diarrheal disease: rare ailment starts in adulthood, attacking gut before brain. Seppa, Nathan Dec 14, 2013 412
The elusive gene for keratolytic winter erythema. Hull, P.R.; Hobbs, A.; Aron, S.; Ramsay, M. Report Dec 1, 2013 3762
Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation. Wainstein, T.; Kerr, R.; Mitchell, C.L.; Madaree, S.; Essop, F.B.; Vorster, E.; Wainwright, R.; Pool Report Dec 1, 2013 2992
Characteristics and prognosis of adult acute myeloid leukemia with internal tandem duplication in the FLT3 gene. Mawali, Adhra Al-; Gillis, David; Lewis, Ian Report Nov 1, 2013 5786
In a Surprise Finding, Gene Mutation Found Linked to Low-Risk Bladder Cancer. Oct 14, 2013 448
The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in south Africans. Roberts, L.J.; Hardie, S.; Hoosen, T. Goolam; Ramesar, R.S.; Greenberg, L.J. Letter to the editor Oct 1, 2013 1150
Macrolide-resistant Mycoplasma pneumoniae in humans, Ontario, Canada, 2010-2011. Eshaghi, AliReza; Memari, Nader; Tang, Patrick; Olsha, Romy; Farrell, David J.; Low, Donald E.; Gubb Report Sep 1, 2013 2378
[beta]-thalassemia mutation at codon 37 (TGG>>TGA) detected in a Turkish family / Bir Turk Ailesinde Gozlenen Kodon 37 [beta] Tatasemi Mutasyonu. Gulec, Derya; Bilgili, Sibel; Uzuncan, Nuriye; Giray, Bozkaya; Soyer, Nur; Karaca, Baysal Report Sep 1, 2013 954
Identification of y chromosome microdeletions in infertile turkish men / Infertil Turk erkeklerinde Y kromozomu mikrodelesyonlannin saptanmasi. Kucukaslan, Ali Sahin; Cetintas, Vildan Bozok; Altinta, Rasit; Vardarli, Asli Tetik; Mutlu, Zeynep; Report Sep 1, 2013 2936
Saving her own life. Beeler, Kelsie Aug 1, 2013 1310
Prognostic impact of nucleophosmin 1 (NPM1) gene mutations in egyptian acute myeloid leukemia patients / Nukleofosmin 1 (NPM1) Gen Mutasyonunun Misirli Akut Miyeloid Losemi Hastalarmdaki Prognostik Onemi. Zidan, Magda; Shaaban, Howyda; Ghannam, Doaa El Report Jun 1, 2013 4889
Dasatinib may override F317L BCR-ABL kinase domain mutation in patients with chronic myeloid leukemia / Dasatinib F317L BCR-ABL Mutasyonu Olan Kronik Miyeloid Losemi Hastalarinda Etkili Olabilir. Eskazan, Ahmet Emre; Soysal, Teoman Clinical report Jun 1, 2013 1364
Genetics in your practice: direct access to unexpected test results. Levy, Howard P. Apr 1, 2013 1383
MPL W515L/K mutations in chronic myeloproliferative neoplasms / Kronik Miyeloproliferatif Neoplazmiarda MPL W515l/K Mutasyonlarl. Akpinar, Timur Selcuk; Hancer, Veysel Sabri; Nakaci, Meliha; Diz-Kucukkaya, Reyhan Report Mar 1, 2013 3109
Chanarin-Dorfman Syndrome with multi-system involvement in two siblings / Coklu Organ Tutulumu Olan Chanarin Dorfman Sendromlu iki Kardes. camlar, Secil Arslansoyu; Gencpmar, Pular; Makay, Balahan; Yuzbasioglu, Aye; Arslan, Nur; Dokrneci, Report Mar 1, 2013 2123
Predisposing role of heterozygote MTHFR A1298C mutation in venous thrombosis in a pregnant patient: a case report. Arduc, Ayse; Isik, Serhat; Dogan, Bercem Aycicek; Ozuguz, Ufuk; Akbaba, Gulhan; Berker, Dilek; Guler Case study Jan 1, 2013 1347
Precancerous lesions in colorectal cancer. Sandouk, Fayez; Jerf, Feras Al; Halabi, M.H.D. Bassel Al- Report Jan 1, 2013 9381
Insulin-like growth factor 1 receptor as a therapeutic target in Ewing sarcoma: lack of consistent upregulation or recurrent mutation and a review of the clinical trial literature. O'Neill, Alison; Shah, Nilay; Zitomersky, Naamah; Ladanyi, Marc; Shukla, Neerav; Uren, Aykut; Loeb, Report Jan 1, 2013 6997
MDM2 amplification and PI3KCA mutation in a case of sclerosing rhabdomyosarcoma. Kikuchi, Ken; Wettach, George R.; Ryan, Christopher W.; Hung, Arthur; Hooper, Jody E.; Beadling, Car Report Jan 1, 2013 4591
Sporadic versus radiation-associated angiosarcoma: a comparative clinicopathologic and molecular analysis of 48 cases. Hung, Jennifer; Hiniker, Susan M.; Lucas, David R.; Griffith, Kent A.; McHugh, Jonathan B.; Meirovit Report Jan 1, 2013 5445
Spectral analysis of EEG in familial Alzheimer's disease with E280A presenilin-1 mutation gene. Rodriguez, Rene; Lopera, Francisco; Alvarez, Alfredo; Fernandez, Yuriem; Galan, Lidice; Quiroz, Yake Report Jan 1, 2013 6651
Pneumocystis jirovecii genotype associated with increased death rate of HIV-infected patients with Pneumonia. Rabodonirina, Meja; Vaillant, Laetitia; Taffe, Patrick; Nahimana, Aimable; Gillibert, Rene-Pierre; V Report Jan 1, 2013 5567
Linezolid dependence in Staphylococcus epidermidis bloodstream isolates. Pournaras, Spyros; Ntokou, Eleni; Zarkotou, Olympia; Ranellou, Kyriaki; Themeli-Digalaki, Katerina; Report Jan 1, 2013 2410
Selective depletion of mutant p53 by cancer chemopreventive isothiocyanates and their structure-activity relationships. Brief article Jan 1, 2013 158
Gene controls aspirin benefit: mutation makes colorectal tumors vulnerable to drug. Seppa, Nathan Dec 1, 2012 362
Diagnosing rate disorders using next generation sequencing. Elliott, Aaron Dec 1, 2012 1528
Singer thanks hospital after breast removal surgery; Star Michelle underwent seven-hour double mastectomy operation. Nov 29, 2012 484
Analysis of chromosomal aberrations and FLT3 gene mutations in childhood acute myelogenous leukemia patients / Cocukluk Cagi Akut Myeloid Losemi Hastalarinda Kromozomal Degisiklikler ve FLT3 Geni Mutasyonlarinin Arastirilmasi. Coskunpinar, Ender; Anak, Sema; Agaoglu, Leyla; Untivar, Ayegul; Devecioglu, Omer; Aydogan, Gonul; T Report Sep 1, 2012 4955
The association between JAK2V617F mutation and bone marrow fibrosis at diagnosis in patients with philadelphia-negative chronic myeloproliferative neoplasms / Philadelphia Negatif kronik Miyeloproliferatif Neoplazili Hastalarin Tanisinda JAK2V617F mutasyonu ile Kemik Iligindeki Fibrozun Iliskisi. Cem Ar, M; Buyuktas, Deram; Eskazan, A. Emre; Aydin, Seniz Ongoren; Tanrikulu, Eda; Baslar, Zafer; B Report Sep 1, 2012 3175
Familial hemophagocytic lymphohistiocytosis with A665G perforin gene mutation: a case report / A665G Perforin Gen Mutasyonu Olan Ailesel Hemofagositik Lenfohistiyositozis: Bir Olgu Sunumu. Yenicesu, Idil; De Saint Basile, Genevieve; Emeksiz, Hamdi Cihan; Dalgic, Buket Report Sep 1, 2012 3191
First observation of hemoglobin M saskatoon (S63 (E7) his>tyr(C-T)) in the Iraqi population / Irakli Bir Hastada Ilk Kez Gozlenen Hemoglobin M Saskatoon ([beta]63 (E7) His>Tyr(C-T)). Akar, Nejat; Arslan, Cigdem; Kurekci, Emin Letter to the editor Sep 1, 2012 887
Hb[A.sub.2]-Yokoshima (delta 25(B7)Gly >Asp) and Hb [A.sub.2]-Yialousa (delta 27(B9)Ala>Ser) in turkey / Turkiye'de Gozienen Hb[A.sub.2]--Yokoshima (delta25(B7)Gly >Asp) ve Hb[A.sub.2]--Yialousa (delta27(13-9)Ala>Ser) Olgulari. Koseler, Aylin; Atalay, Ayfer; Atalay, Erol Omer Letter to the editor Sep 1, 2012 917
High-resolution melting analysis as a sensitive prescreening diagnostic tool to detect KRAS, BRAF, PIK3CA, and AKT1 mutations in formalin-fixed, paraffin-embedded tissues. Ney, Jasmin Teresa; Froehner, Stefanie; Roesler, Angelika; Buettner, Reinhard; Merkelbach-Bruse, Sab Sep 1, 2012 5970
Advances in treatment of lung cancer with targeted therapy. Cagle, Philip T.; Chirieac, Lucian R. May 1, 2012 4883
From the coalface of clinical paediatric neurology: Menkes disease--a lesson not to be forgotten. Lubbe, Elsa Case study May 1, 2012 2688
Variation of ATM gene expression in peripheral blood cells of sporadic breast carcinomas in Iranian patients. Foroughizadeh, Mohsen; Mozdarani, Hossein; Majidzadeh-A, Keyvan; Kaviani, Ahmad Apr 1, 2012 3717
The frequency of mutations in exon 11 of the c-kit gene in patients with leukemia / Losemili Hastalarda c-kit Geni Ekson 11 Mutasyonlarinin Sikligi. Hussain, Syed Rizwan; Babu, Sunil G; Naqvi, Hena; Singh, Pradyumn; Mahdi, Farzana Clinical report Mar 1, 2012 4642
A clinical and histopathological study of Darier's disease. Puri, Neerja Report Dec 31, 2011 2049
Gene behind increased risk of deadly skin cancer identified. Nov 14, 2011 269
Aflatoxin, hepatitis B virus, and seasonal variation in serum DNA mutations. Brief article Nov 1, 2011 138
Seasonal variation in TP53 R249S-mutated serum DNA with aflatoxin exposure and hepatitis B virus infection. Villar, Stephanie; Roux-Goglin, Emilie Le; Gouas, Doriane A.; Plymoth, Amelie; Ferro, Gilles; Boniol Report Nov 1, 2011 6814
Clinical implications of azole resistance in Aspergillus fumigatus, the Netherlands, 2007-2009. van der Linden, Jan W.M.; Snelders, Eveline; Kampinga, Greetje A.; Rijnders, Bart J.A.; Mattsson, Ev Clinical report Oct 1, 2011 6095
One problem, many paths: autism's many genetic players may act through common networks. Sanders, Laura Report Aug 13, 2011 1368
Association of gene polymorphisms with development of cancer risk or their protective role associated with some mutant alleles. Nayeemuddin, Khazi M.; Rafeeq, Safia; Lodhi, Ashutosh K. Report Jun 1, 2011 2540
Thanatophoric dysplasia: a rare entity. Naveen, N.S.; Murlimanju, B.V.; Kumar, Vishal; Pulakunta, Thejodhar; H., Jeeyar Case study May 1, 2011 1288
New mutations evolve in cancer: acute myeloid leukemia data may aid choice of treatment. Sanders, Laura Apr 23, 2011 363
MRI-based atlas of the developing mouse brain debuts. Holzman, David C. Report Apr 1, 2011 630
Investigation of the relationship between clinical and EEG findings of photosensitive epilepsy and GABA receptor alpha 1 subunit (GABRA1) gene mutations/Fotosensitif epilepsilerde klinik ve EEG bulgularinin GABA reseptor alfa 1 alt unitesi (GABRA1) geni mutasyonlari ile iliskisinin arastirilmasi. Yavuz, Ebru Nur; Demirkan, Ayse; Moen, Sanne; Ozdemir, Ozkan; Catal, Suzin; Bebek, Nerses; Ozbek, Ug Report Mar 1, 2011 3118
Screening for Lynch syndrome can save lives. Smith, Jennie Report Dec 1, 2010 498
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. Gui, Gerald Dec 1, 2010 632
An interesting case of idiopathic patterned hypomelanosis - a new entity? Case study Sep 30, 2010 438
Genetic variants that modify breast cancer risk identified. Disease/Disorder overview Sep 20, 2010 281
Path emerging for tailored metastatic melanoma Tx. Sullivan, Michele G. Sep 1, 2010 493
How to target mutant p53 in a case of multiple cancer recurrence. Jurasunas, Serge; Taylor, Olga Galkina Report Aug 1, 2010 2510
BRAF mutation testing in colorectal cancer. Sharma, Shree G.; Gulley, Margaret L. Aug 1, 2010 3329
Dental arch dimensions in children with hypophosphataemic Vitamin D resistant rickets. Al-Jundi, S.H.; Al-Naimy, Y.F.; Alsweedan, S. Report Jun 1, 2010 3432
When information: can save lives: the duty to warn relatives about sudden cardiac death and environmental risks. Elger, Bernice; Michaud, Katarzyna; Mangin, Patrice Report May 1, 2010 5707
Amelogenesis Imperfecta due to a mutation of the enamlin gene: Clinical case with genotype-phenotype correlations. Wright, Graeme Brief article Apr 1, 2010 211
Glomerulocystic kidney: one hundred-year perspective. Lennerz, Jochen K.; Spence, David C.; Iskandar, Samy S.; Dehner, Louis P.; Liapis, Helen Report Apr 1, 2010 19417
KRas and BRaf mutational status analysis from formalin-fixed, paraffin-embedded tissues using multiplex polymerase chain reaction-based assay. Jakubauskas, Arturas; Griskevicius, Laimonas Report Apr 1, 2010 2777
Associations between polycyclic aromatic hydrocarbon-related exposures and p53 mutations in breast tumors. Mordukhovich, Irina; Rossner, Pavel Jr.; Terry, Mary Beth; Santella, Regina; Zhang, Yu-Jing; Hibshoo Report Apr 1, 2010 10344
Rare ATM gene mutations, plus radiation, ups second breast cancer risk. Mar 21, 2010 410
Multifactorial genetic disorders and adverse selection: epidemiology meets economics. Macdonald, Angus; Tapadar, Pradip Mar 1, 2010 12644
Single gene mutation can cause endometrial cancer. Feb 10, 2010 377
Origin of highly pathogenic porcine reproductive and respiratory syndrome virus, China. An, Tong-Qing; Tian, Zhi-Jun; Xiao, Yan; Li, Ran; Peng, Jin-Mei; Wei, Tian-Chao; Zhang, Yi; Zhou, Ya Letter to the editor Feb 1, 2010 1315
Benign testicular tumours and genetic disease. Brief article Feb 1, 2010 155
Is the epidermal growth factor receptor status in lung cancers reflected in clinicopathologic features? Inamura, Kentaro; Ninomiya, Hironori; Ishikawa, Yuichi; Matsubara, Osamu Report Jan 1, 2010 4681
R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer (HNPCC) in an Indian extended family. Rajender, Singh; Pooja, Singh; Kumar, M.V. Kranthi; Karwasra, Rajendra; Singh, Lalji; Thangaraj, Kum Report Jan 1, 2010 4062
Aggressive childhood cancer linked to mutations. McBride, Deborah Brief article Jan 1, 2010 248
Two sisters have their stomachs removed to beat family cancer; MUTANT GENE PUT THEM AT 80% RISK. Dec 10, 2009 306
Protect your genes from deadly mutations. Colman, John Report Dec 1, 2009 2809
Cap +1 mutation; an unsuspected cause of beta thalassaemia transmission in Pakistan/Cap +1 mutasyon; Pakistan'da beta talasemi tasiyiciliginin suphe goturmez bir nedeni. Karim, Muhammad Usman Abdul; Moinuddin, Moinuddin; Babar, Sadia Usman Report Dec 1, 2009 2195
CHEK2 mutation increases breast Ca mortality. Boschert, Sherry Report Nov 15, 2009 263
A novel approach using DNA-repair-deficient chicken DT40 cell lines for screening and characterizing the genotoxicity of environmental contaminants. Ji, Kyunghee; Kogame, Toshiaki; Choi, Kyungho; Wang, Xin; Lee, Jinyoung; Taniguchi, Yoshihito; Taked Report Nov 1, 2009 7616
Low glucose around tumors fuels Genetic mutations. McBride, Deborah Brief article Nov 1, 2009 238
15th Congress of the European Cancer Organization and the 34th European Society for Medical Oncology multidisciplinary congress: GI update. Brown, Vanessa Clinical report Oct 1, 2009 1840
CFTR structural rearrangements are not a major mutational mechanism in black and coloured southern African patients with cystic fibrosis. De Carvalho, Candice Lee; Ramsay, Michele Oct 1, 2009 611

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