| Title |
Author |
Type |
Date |
Words |
| Coronavirus strain mutation no cause for alarm, scientists say. |
|
|
Aug 19, 2020 |
897 |
| 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 |
| Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism. |
Salameh, Rami; Miah, Mumtaheena; Anastasopoulou, Catherine |
|
Jun 30, 2020 |
1201 |
| 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 |
| Regulation of Iron Homeostasis and Related Diseases. |
Li, Yikun; Huang, Xiali; Wang, Jingjing; Huang, Ruiling; Wan, Dan |
|
May 31, 2020 |
8903 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Remodelling and Improvements in Organoid Technology to Study Liver Carcinogenesis in a Dish. |
Tharehalli, Umesh; Svinarenko, Michael; Lechel, Andre |
|
Mar 31, 2019 |
5652 |
| 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, |
|
Nov 1, 2018 |
2126 |
| 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 |
| 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 |
| 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 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 |
| 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 |
| 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 |
| 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 |
| The Genetic Mutation That Makes You More Prone To Colds. |
|
|
Jun 28, 2017 |
478 |
| Cyprus-linked genetic mutation causing breast and ovarian cancer identified. |
|
Disease/Disorder overview |
Jun 28, 2017 |
674 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Top news stories trending online. |
|
Brief article |
Jan 1, 2016 |
169 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Amelogenesis Imperfecta due to a mutation of the enamlin gene: Clinical case with genotype-phenotype correlations. |
Wright, Graeme |
Brief article |
Apr 1, 2010 |
211 |
| Rare ATM gene mutations, plus radiation, ups second breast cancer risk. |
|
|
Mar 21, 2010 |
410 |
