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Title Author Type Date Words
Benitec Biopharma provides update on BB-301 tissue transduction study. Jul 8, 2020 189
Myriad Genetics announces publication of two riskScore analyses. Jul 7, 2020 299
FREQUENCY OF MPL AND JAK2 EXON12 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS. Sana Latif, Saleem Ahmed Khan, Asad Mahmood and Rafia Mahmood Jun 30, 2020 2460
Consanguinity, the driving force behind inheritance of HbS-[beta] thalassemia in Southern Districts of KP. Khan, Jabbar; Muhammad, Dost; Ismail, Muhammad; Khan, Inamullah; Rehman, Zia ur; Niaz, Shahid Report Jun 16, 2020 3814
Human Stem Cells Modeled To Identify Degeneration In Glaucoma. Jun 15, 2020 613
A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation. Arslan, Gulcin; Acar, Sezer; Ozdemir, Taha Resid; Nalbantoglu, Ozlem; Kirbiyik, Ozgur; Koprulu, Ozge Jun 1, 2020 2855
Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Acar, Sezer Letter to the editor Jun 1, 2020 767
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
Anesthesia outside the Operating Room in a Patient with Mitochondrial Disease. Fadrique-Fuentes, Alejandra; Martinez-Rafael, Beatriz; Poves-Avarez, Rodrigo; Gomez-Pesquera, Estefa May 31, 2020 1789
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
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma. Cinque, Luigia; Pugliese, Flavia; Clemente, Celeste; Castellana, Stefano; Leone, Maria Pia; de Marti May 31, 2020 3176
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family. Qiu, Yue; Chen, Sen; Wu, Xia; Zhang, Wen-Juan; Xie, Wen; Jin, Yuan; Xie, Le; Xu, Kai; Bai, Xue; Zhan May 31, 2020 4787
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
Myriad Genetics presents new data on riskScore test. May 29, 2020 325
AstraZeneca's And Merck's Lynparza Approved In US For Prostate Cancer. May 20, 2020 211
Research Into Stem Cell Mutations Could Improve Regenerative Medicine. May 18, 2020 252
Biocept expands molecular assay offering with release of Target Selector BRAF kit. May 15, 2020 434
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
Dave Hodgson, Somonauk (formerly of Naperville). May 6, 2020 411
Diabetes Reversed In Mice With CRISPR-Edited Stem Cells. May 4, 2020 829
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
Nationwide Monitoring for Plasmodium falciparum Drug-Resistance Alleles to Chloroquine, Sulfadoxine, and Pyrimethamine, Haiti, 2016-2017. Rogier, Eric; Herman, Camelia; Huber, Curtis S.; Hamre, Karen E.S.; Pierre, Baby; Mace, Kimberly E.; May 1, 2020 6023
Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity. Jeong, Da Un; Lee, Jiyeong; Lim, Ki Moo Apr 30, 2020 6368
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
RAS Mutational Status Detection in Tissue, Plasma, and Stool Samples for Colorectal Cancer. Zhu, Liuying; Wang, Yuanhe; Zhou, Yang; Dong, Qian; Liu, Yunpeng; Zhang, Jingdong Apr 30, 2020 4465
Antiepithelial-Mesenchymal Transition of Herbal Active Substance in Tumor Cells via Different Signaling. Cui, Xiaoji; Lin, Qinlu; Huang, Ping; Liang, Ying Apr 30, 2020 6321
Lung Transplantation in a Patient with COPA Syndrome. Mallea, Jorge M.; Kornafeld, Anna; Khoor, Andras; Erasmus, David B. Apr 30, 2020 824
Extensive In Silico Analysis of ATL1 Gene: Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A. Mustafa, Mujahed I.; Murshed, Naseem S.; Abdelmoneim, Abdelrahman H.; Abdelmageed, Miyssa I.; Elfado Apr 30, 2020 6512
FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS. Sana Latif, Saleem Ahmed Khan, Asad Mahmood, Helen Mary Robert and Rafia Mahmood Armed Apr 30, 2020 2496
Thrombophilic Risk of Factor V Leiden, Prothrombin G20210A, MTHFR, and Calreticulin Mutations in Essential Thrombocythemia Egyptian Patients. El-Ghonemy, Mohamed S.; Sharawy, Solafa El; Fahmi, Maryan Waheeb; El-Ashwah, Shaimaa; Denewer, May; Apr 30, 2020 3978
Impact of the Italian Society of Anatomic Pathology and Diagnostic Cytology Classification of Thyroid Nodules in the Treatment of Indeterminate Follicular Lesions: Five-Year Results at a Single Center. Pastoricchio, M.; Cubisino, A.; Lanzaro, A.; Troian, M.; Zanconati, F.; Bernardi, S.; Fabris, B.; de Clinical report Apr 30, 2020 6093
Qiagen launches therascreen BRAF test as Braftovi companion diagnostic. Apr 15, 2020 158
Short Communication - Polymorphism Analysis of FMO3 Gene in Egg Quail. Bai, Jun Yan; Jia, Xiao Ping; Wu, Xiao Hong; Li, Guang Lu; Cao, Heng; Fu, Xue Yan; Shi, Kun Peng Report Apr 10, 2020 2565
Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation. Owusu-Brackett, Nicci; Menon, Preethi Dileep; Nazarullah, Alia; Jatoi, Ismail; Elmi, Maryam Apr 1, 2020 1515
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
Response to Dabrafenib and Trametinib of a Patient with Metaplastic Breast Carcinoma Harboring a BRAF V600E Mutation. Seo, Takuji; Noguchi, Emi; Yoshida, Masayuki; Mori, Taisuke; Tanioka, Maki; Sudo, Kazuki; Shimomura, Mar 31, 2020 3133
A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer. Robbins, Richard J.; Thomas, Jessica S.; Osuna, Patricia Mejia; Shakil, Jawairia Mar 31, 2020 1427
Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. Amin, Shaema Salih; Jalal, Sana Dlawar; Ali, Kosar Muhammed; Mohammed, Ali Ibrahim; Rasool, Luqman K Mar 31, 2020 8254
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
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family. Li, Bin; Lu, Bin; Guo, Xuewen; Hu, Shenghui; Zhao, Guihu; Huang, Weihong; Hu, Jianzhong; Song, Kun Mar 31, 2020 5693
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework. Cheng, Liting; Li, Xiaoyan; Zhao, Lin; Wang, Zefeng; Zhang, Junmeng; Liang, Zhuo; Wu, Yongquan Mar 31, 2020 6939
French Gene Therapy Specialist Horama Signs Exclusive License Agreement with Leiden University Medical Center. Mar 19, 2020 396
DermTech says study shows TERT analyses, PLA improves test sensitivity. Mar 16, 2020 206
Metagenomics of Imported Multidrug-Resistant Mycobacterium leprae, Saudi Arabia, 2017. Guan, Qingtian; Almutairi, Talal S.; Alhalouli, Tahani; Pain, Arnab; Alasmari, Faisal Report Mar 1, 2020 1237
HYPER-PERSONALIZED MEDICINE: Novel drugs are being designed to treat unique genetic mutations. Regalado, Antonio Mar 1, 2020 387
Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His. Aashiq, Mohamed; Malallah, Asma Jassim; Khan, Farheen; Alsada, Maryam Mar 1, 2020 2223
Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors. Terrones-Lozano, Alejandro; Hernandez-Hernandez, Alan; Vera, Edgar Nathal; Guinto-Nishimura, Gerardo Mar 1, 2020 3581
Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up. Pellini, F.; Mirandola, S.; Granuzzo, E.; Urbani, S.; Leopardi, G. Piccinni; Pollini, G.P. Mar 1, 2020 3425
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
Whole-Genome Resequencing of Twenty Branchiostoma belcheri Individuals Provides a Brand-New Variant Dataset for Branchiostoma. Bi, Changwei; Lu, Na; Han, Tingyu; Huang, Zhen; Chen, J.-Y.; He, Chunpeng; Lu, Zuhong Mar 1, 2020 11096
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
Baricitinib in therapy of COPA syndrome in a 15-year-old girl. Krutzke, Sophia; Rietschel, Christoph; Horneff, Gerd Mar 1, 2020 3068
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia. Isik, Esra; Onay, Huseyin; Atik, Tahir; Solmaz, Asli Ece; Ozen, Samim; Cogulu, Ozgur; Darcan, Sukran Mar 1, 2020 1970
Osseous Findings in Sickle Cell Disease. Kennedy, Daniel P.; Hooker, Jeffrey D.; Morris, Robert W. Mar 1, 2020 1651
Whole Genome Sequencing for the Analysis of Drug Resistant Strains of Mycobacterium tuberculosis: A Systematic Review for Bedaquiline and Delamanid. Ramirez, Luisa Maria Nieto; Vargas, Karina Quintero; Diaz, Gustavo Report Mar 1, 2020 7087
Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region. Malkondu, Fatma; Arikoglu, Hilal; Kaya, Dudu Erkoc; Bozkurt, Banu; Ozkan, Fehmi Mar 1, 2020 4051
20 Most rare diseases. Feb 27, 2020 1724
Mutations In Donors' Stem Cells May Cause Problems For Cancer Patients. Jan 27, 2020 1015
Gene Test Might Spot Soccer Players at High Risk for Brain Trouble. Steven Reinberg, HealthDay Reporter Jan 27, 2020 748
Scientists unveil drug-duo to fight off cancer. ANI Jan 24, 2020 453
Acid Sphingomyelinase Deficiency Type C - Pipeline Review, H2 2019. Jan 20, 2020 974
Cancers and immune system engaged in 'evolutionary arms race'. Press Association Jan 16, 2020 562
Bid to help others with condition. CHRIS MARZELLA Jan 8, 2020 421
Characteristics of Children with Alagille Syndrome at Children's Hospital No. 1, Vietnam. Van Ta, Tram; Nguyen, Truong Viet; Pham, Hien The; Nguyen, Tuan Anh Report Jan 1, 2020 2567
ETV6: A Candidate Gene for Predisposition to "Blend Pedigrees"? A Case Report from the NEXT-Famly Clinical Trial. Bernardi, Simona; Farina, Mirko; Zanaglio, Camilla; Cattina, Federica; Polverelli, Nicola; Schieppat Jan 1, 2020 4713
Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? Viallard, Jean-Francois; Parrens, Marie; Rieux-Laucat, Frederic Jan 1, 2020 4193
BRCA2 gene mutation and prostate cancer risk: Comprehensive review and update. Junejo, Noor N.; AlKhateeb, Sultan S. Jan 1, 2020 7130
Candidatus Mycoplasma haemohominis in Human, Japan. Hattori, Norimichi; Kuroda, Makoto; Katano, Harutaka; Takuma, Takahiro; Ito, Takayoshi; Arai, Nana; Jan 1, 2020 4591
Next-Generation Sequencing Panel Analysis of Clinically Relevant Mutations in Circulating Cell-Free DNA from Patients with Gestational Trophoblastic Neoplasia: A Pilot Study. Luo, Lingxiao; Lin, Ling; Zhang, Xiaoyan; Cai, Qingqing; Zhao, Hongbo; Xu, Congjian; Cong, Qing Report Jan 1, 2020 4380
Genentech meets primary endpoint in Phase III IMspire150 study of BRAF V600 mutation-positive advanced melanoma. Dec 17, 2019 164
Genentech meets primary endpoint in Phase III IMspire150 study of BRAF V600 mutation-positive advanced melanoma. Dec 17, 2019 160
Brain Disorder Fixed With Epigenome Edit. Dec 15, 2019 543
Roche announces positive Phase III study results for Tecentriq plus Cotellic and Zelboraf in people with previously untreated BRAF V600 mutation-positive advanced melanoma. Dec 13, 2019 1275
The gene-culture coevolution theory. Dec 13, 2019 637
BRCA Gene Screen Recommendations: The U.S. Preventive Services Task Force has issued new recommendations on who should be tested for the breast cancer genes. Marcom, P. Kelly Dec 1, 2019 768
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
Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report. Kautsar, Ahmad; Wit, Jan M.; Pulungan, Aman Dec 1, 2019 3594
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent. Poyrazoglu, Sukran; Hwa, Vivian; Bas, Firdevs; Dauber, Andrew; Rosenfeld, Ron; Darendeliler, Feyza Dec 1, 2019 3923
A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation. Kang, Sol; Kang, Young Kyung; Lee, Jun Ah; Kim, Dong Ho; Lim, Jung Sub Dec 1, 2019 2545
Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation. Lasky, Lizl; Bliss, Lindsay; Sidiropoulos, Christos Dec 1, 2019 1236
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 1, 2019 7128
Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy. Meng, Lingzhang; Cao, Shan; Lin, Na; Zhao, Jingjie; Cai, Xulong; Liang, Yonghua; Huang, Ken; Lin, Ma Dec 1, 2019 3915
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 Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature. Torresan, Francesca; Iacobone, Maurizio Dec 1, 2019 7879
Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families. Qiu, Yue; Chen, Sen; Xie, Le; Xu, Kai; Lin, Yi; Bai, Xue; Zhang, Hui-Min; Liu, Xiao-Zhou; Jin, Yuan; Dec 1, 2019 4145
Metaplastic Breast Carcinoma: Update on Histopathology and Molecular Alterations. McMullen, Emily R.; Zoumberos, Nicholas A.; Kleer, Celina G. Dec 1, 2019 3740
Patients with FMF Associated Spondyloarthropathy Who Has Heterozygous M694V Mutation: A Case Report/Heterozygous M694V Mutasyonu Olan FMF Iliskili Spondiloartropatili Hastalar: Bir Olgu Sunumu. Cerrahoglu, Ayse Beyhan Lale; Alpturker, Kezban Armagan Dec 1, 2019 2118
Study Supports PSA Screening for Male BRCA2 Carriers; Further follow-up needed to assess benefit of PSA screening in male BRCA1 mutation carriers. Nov 27, 2019 264
Cancer Cells Increase DNA Mutations to Evade Treatment. Nov 10, 2019 784
Study reveals gene link to brain disease; SCIENCE. NINA MASSEY Nov 5, 2019 236
A Gene Kept One Woman From Developing Alzheimer's -- Could It Help Others? Alan Mozes, HealthDay Reporter Nov 4, 2019 726
New Hope for Cystic Fibrosis: Phase 3 Trial. Nov 2, 2019 552
Drug Trio Could Give Patients With Cystic Fibrosis a New Option. Nov 1, 2019 646
The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study. Barman, Hasan Ali; Ikitimur, Baris; Avci, Burcak Kilickiran; Durmaz, Eser; Atici, Adem; Aslan, Serka Nov 1, 2019 3509
Cystic Fibrosis Liver Disease: Know More. Sinani, Siham Al; Mulaabed, Sharef Al-; Naamani, Khalid Al; Sultan, Rabab Nov 1, 2019 5090
HIV Drug Resistance among Patients Failing Therapy at a Tertiary Center in Oman: A Case Record Review. Omairi, Omaira Al-; Elgalib, Ali; Kindi, Hanan Al Nov 1, 2019 3346
Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome. Senthilraja, Manickavasagam; Chapla, Aaron; Jebasingh, Felix K.; Naik, Dukhabhandhu; Paul, Thomas V. Nov 1, 2019 1866
Mutation Profiling of Premalignant Colorectal Neoplasia. Karczmarski, Jakub; Goryca, Krzysztof; Pachlewski, Jacek; Dabrowska, Michalina; Pysniak, Kazimiera; Nov 1, 2019 6457
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 1, 2019 3329
Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers. Mamidi, Tarun Karthik Kumar; Wu, Jiande; Hicks, Chindo Nov 1, 2019 10642
Identification of Two DNMT3A Mutations Compromising Protein Stability and Methylation Capacity in Acute Myeloid Leukemia. Bruno, Samantha; Bochicchio, Maria Teresa; Franchini, Eugenia; Padella, Antonella; Marconi, Giovanni Nov 1, 2019 5237
Tumor Mutational Burden and Genomic Alterations in Chinese Small Cell Lung Cancer Measured by Whole-Exome Sequencing. Su, Shan; Zeng, Jian-Jun Zou Yun-Yun; Cen, Wen-Chang; Zhou, Wei; Liu, Yan; Su, Duo-Hua; Zhang, Xian- Nov 1, 2019 4357
Optical Coherence Tomography of Animal Models of Retinitis Pigmentosa: From Animal Studies to Clinical Applications. Nakazawa, Mitsuru; Hara, Aiko; Ishiguro, Sei-ichi Nov 1, 2019 8592
Update in Genetics and Surgical Management of Primary Congenital Glaucoma. Mocan, Mehmet C.; Mehta, Amy A.; Aref, Ahmad A. Disease/Disorder overview Nov 1, 2019 7742
Study finds treatment for blindness causing syndrome. ANI Oct 26, 2019 477
Clinical Profile of Patients of Sickle Cell Crisis in a Rural Tertiary Care Hospital. Verghese, Betty; Acharya, Sourya; Khandekar, Aditya; Shukla, Samarth; Acharya, Neema Oct 21, 2019 3367
HAEMOCHROMATOSIS: You might have this blood disorder -- millions do and don't know it. Oct 20, 2019 749
Haemochromatosis: You might have blood disorder -most common genetic condition in the West; Most people have never heard of haemochromatosis -yet it's the most common genetic condition in the Western world. By, Rosie Hopegood Oct 20, 2019 847
Biocept's validation testing of Target Selector for cancer mutations published in peer-review journal. Oct 8, 2019 435
Gene mutations cause beautiful colors for torties, calicos. Oct 6, 2019 501
Gene mutations cause beautiful colors for torties and calicos. Oct 6, 2019 496
CRISPRed Fruit Flies Mimic Monarch Butterfly. Oct 3, 2019 1753
AHA News: Entertainment Exec Mathew Knowles: I Have Breast Cancer. Oct 2, 2019 883
New Guidelines for Assessing Risk of Breast and Ovarian Cancers. Disease/Disorder overview Oct 1, 2019 156
New Approach Needed for Biopsy Testing. Oct 1, 2019 304
Developmental Toxicity Assessment of Piperonyl Butoxide Exposure Targeting Sonic Hedgehog Signaling and Forebrain and Face Morphogenesis in the Mouse: An in Vitro and in Vivo Study. Everson, Joshua L.; Sun, Miranda R.; Fink, Dustin M.; Heyne, Galen W.; Melberg, Cal G.; Nelson, Kia Report Oct 1, 2019 10723
The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey. Celep, Gokce; Durmaz, Zeynep Hulya; Erdogan, Yalciner; Akpinar, Seviye; Kaya, Saban Abdullah; Guckan Oct 1, 2019 4750
Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies. Sarode, Venetia R.; Robinson, Linda Oct 1, 2019 7297
Modulation of ERQC and ERAD: A Broad-Spectrum Spanner in the Works of Cancer Cells? Tax, Gabor; Lia, Andrea; Santino, Angelo; Roversi, Pietro Oct 1, 2019 11715
Lynparza more than doubled the time without radiographic disease progression in patients with BRCA1/2- or ATM-mutated metastatic castration-resistant prostate cancer. Sep 30, 2019 900
AstraZeneca, Merck presents results from Phase 3 PROfound trial of LYNPARZA. Sep 30, 2019 545
Are Mutants Real? Scientists Say Yes And Why. Darwin Malicdem Sep 26, 2019 392
Taiwan ranked No. 1 in 'Asian flush' sufferers in world: Stanford study. Sep 20, 2019 469
Screening for Breast Cancer in Men Has Increased Over Time; Risk higher for older age, Ashkenazi descent, genetic mutations, and personal, first-degree family hx. Sep 17, 2019 263
Isogenic Cell Lines Market: Regional Growth Size Trends Focusing on Manufacturers Recorded during 20. Sep 16, 2019 1005
Bartter Syndrome Treatment Market: Geographical Expansion & Development Status Recorded during 2019-. Sep 14, 2019 1208
Bartter Syndrome Treatment Market: Geographical Expansion & Development Status Recorded during 2019-. Sep 13, 2019 1223
Gene Mutations That Cause Left-Handedness Identified. Sep 9, 2019 426
Strategy to boost cancer medicines with "Lazarus effect". Sep 6, 2019 1187
Do Genetic Mutation Play A Role In The Duration Of Our Sleep? Sep 5, 2019 457
The genetic mutation most people don't know about -- but should. Sep 4, 2019 824
IMV Inc. signs research drug development collaboration with Wistar Institute. Sep 4, 2019 139
Mutations in DNA affect how we age. Sep 3, 2019 115
DNA link to ageing; MINUTE BRIEFING. Sep 3, 2019 137
Prevalence of isoniazid resistance-conferring mutations associated with multidrug-resistant tuberculosis in Free State Province, South Africa. Pitso, L.; Potgieter, S.; van der Spoel van Dijk, A. Sep 1, 2019 5718
THE MOUSE THAT DIED OF YOUNG AGE: SOME SCIENTISTS THINK EDITING THE EPIGENOME, WHICH TURNS OUR GENES ON AND OFF, COULD BE THE ELIXIR OF LIFE. Hayasaki, Erika Sep 1, 2019 2358
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy. Oswiecimska, Joanna; Dawidziuk, Mateusz; Gambin, Tomasz; Ziora, Katarzyna; Marek, Marta; Rzonca, Syl Clinical report Sep 1, 2019 4480
A Child Diagnosed With Treatment-Resistant Polyarteritis Nodosa: Can the Clinical Diagnosis be Different? Alaygut, Demet; Alparslan, Caner; Oncel, Elif Perihan; Mutlubas, Fatma; Ozdemir, Tunc; Yavascan, Ond Sep 1, 2019 2579
Gene Therapy Trials: Applications and the limitations of real-world data. Ooms, Karen Sep 1, 2019 2601
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan. Sharif, Yasir; Irshad, Saba; Tariq, Anam; Rasheed, Sana; Tariq, Muhammad H. Report Sep 1, 2019 4429
Long-Term Outcome in Patients with a Solitary Peutz-Jeghers Polyp. Iwamuro, Masaya; Aoyama, Yuki; Suzuki, Seiyuu; Kobayashi, Sayo; Toyokawa, Tatsuya; Moritou, Yuki; Ho Sep 1, 2019 2610
The Role of Interleukin-1 Beta C-511T as a Modifier Polymorphism in Cryopyrin-associated Periodic Syndromes. Ozyilmaz, Berk; Ozdemir, Taha Resid Sep 1, 2019 2515
Emerging Perspective: Role of Increased ROS and Redox Imbalance in Skin Carcinogenesis. Xian, Dehai; Lai, Rui; Song, Jing; Xiong, Xia; Zhong, Jianqiao Sep 1, 2019 8707
Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation. Masmali, Ali; Alkanaan, Aljoharah; Alkatan, Hind M.; Almutairi, Omar KiraAbdullah Ayidh; Almubrad, T Sep 1, 2019 3774
Invasive bilateral breast cancer and high grade serous ovarian cancer with BRCA1-germline mutation and brainstem metastasis under PARP inhibitors. Zahari, Mihaela Marioara; Chiorean, Angelica Rita; Duma, Maria Magdalena; Ungureanu, Andrei; Kacso, Sep 1, 2019 2247
Conformational Changes in Wild Type KRAS Induced by Two Novel Variants p.E31K and p.G138V. Murtaza, Bibi Nazia; Qayum, Azhar; Nadeem, Shamaila Inayat; Al-Maliki, Naif Awdh; Alamri, Abdulaziz; Report Aug 31, 2019 3764
Short Communication - Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan. Yousafzai, Asma; Luqman, Muhammad; Ahmed, Nisar; Arbab, Muneeza; Murad, Muhammad; Sajjad, Naheed; Na Report Aug 31, 2019 2052
Low-density lipoprotein receptor gene mutation at Exon 2 and 4 in premature coronary artery disease in our population. Aug 31, 2019 3149
Genome-Editing a Broad Range of Mutations. Aug 25, 2019 1003
Lynparza Phase 3 PROfound Trial in HRR Mutation-Selected Metastatic Castration-Resistant Prostate Cancer Met Primary Endpoint. Aug 8, 2019 408
Merck, AstraZeneca report PROfound trial met primary endpoint. Aug 7, 2019 230
Clear Cell Sarcoma of the Kidney. Aw, Sze Jet; Chang, Kenneth Tou En Aug 1, 2019 3577
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
Investigation Between MTHFR A1298C polymorphism and Oral Squamous Cell Carcinoma Risk in Turkish Population/Turk Toplumunda MTHFR A1298C Polimorfizmi ile Oral Skuamoz Hucre Karsinom Gelisim Riski Arasindaki Iliskinin Arastirilmasi. Kucukhuseyin, Ozlem; Kayhan, Kivanc Bektas; Unur, Meral; Aydogan, Hulya Yilmaz Aug 1, 2019 5116
Frequency of Alpha Thalassaemia in homozygous Beta Thalassaemia paediatric patients and its clinical impact at a blood disease centre in Karachi, Pakistan. Report Jul 31, 2019 3369
The genetic mutation most people don't know about - but should. Jul 31, 2019 824
X4 Pharmaceuticals Receives Orphan Drug Designation from European Commission for Mavorixafor for Treatment of WHIM Syndrome. Jul 31, 2019 756
Ovarian cancer drug approved; UK & WORLD. Jul 26, 2019 162
Ovarian cancer drug approved; UK & WORLD. Jul 26, 2019 162
Brain Protein Mutation from Child With Autism Causes Autism-Like Behavioral Change in Mice. Jul 24, 2019 798
The Genetic Mutation Most People Don't Know About -- But Should. Jul 13, 2019 819
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report. Candelo, Estephania; Ramirez-Montano, Diana; Pachajoa, Harry Report Jul 1, 2019 3503
Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease. Gokcal, Elif; Bilir, Birdal; Battaloglu, Esra; Aydin, Resa; Yapici, Zuhal Jul 1, 2019 3578
A Case with Laron Syndrome. Ozgen, Ilker Tolga; Kutlu, Esra; Cesur, Yasar; Yesil, Gozde Jul 1, 2019 1896
A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements. Ellsworth, Darrell L.; Turner, Clesson E.; Ellsworth, Rachel E. Jul 1, 2019 8453
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 1, 2019 5383
GENETIC ANALYSIS OF FAMILIES HAVING AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY. Khan, Jamshed; Junaid, Muhammad; Uddin, Shahab; Moeed, Khalida; Ullah, Usman; Aman, Shehla Report Jun 30, 2019 2695
FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS. Jun 30, 2019 2589
Co-existing iron deficiency/overload in beta-thalassemia trait. Report Jun 30, 2019 2934
Toward a Better Understanding of Lipids and Heart Disease Risk: A study of genetic mutations explores the relationships between cholesterol, triglycerides, and apolipoprotein B. Disease/Disorder overview Jun 29, 2019 514
US FDA expands use of Symdeko to include patients ages six years and older for cystic fibrosis. Jun 24, 2019 330
US FDA expands use of Symdeko to include patients ages six years and older for cystic fibrosis. Jun 24, 2019 326
Genetics does have a role in cancer risk; DR MIRIAM STOPPARD; Helping to keep you fit and healthy. Jun 18, 2019 451
BeiGene, SpringWorks Therapeutics form MapKure to develop BGB-3245. Jun 18, 2019 353
LabCorp and Qiagen Launch New therascreen PIK3CA Mutation Analysis Companion Diagnostic for Metastatic Breast Cancer. Jun 11, 2019 470
LabCorp announces new companion diagnostic therascreen PIK3CA PCR. Jun 7, 2019 260
China gene babies' mutation linked to higher mortality: study. Jun 4, 2019 526
Mutation In CCR5 Gene Protects Against HIV But Heightens Risk Of Death. Jun 4, 2019 415
New drug therapy slows spread of pancreatic cancer: study. Jun 3, 2019 562
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation. Dursun, Fatma; Ceylaner, Serdar Jun 1, 2019 4070
Immunohistochemical Study of Amelogenin Binding Proteins in an Amelogenin Point Mutation Mouse/Estudio Inmunohistoquimico de Proteinas de Union de la Amelogenina en un Raton con Mutacion Puntual de Amelogenina. Otawa-Kamogashira, Naoko; Matsuda, Yuko; Takezaki, Masaaki; Hatakeyama, Yuji; Tamaoki, Sachio; Ishik Jun 1, 2019 3941
Current approaches in the breast cancer. Akin, Haluk Jun 1, 2019 281
Does BRCA gene mutation affect comorbidity in patients with breast cancer? Topaloglu, Ulas Serkan; Kiraz, Aslihan Jun 1, 2019 254
Clinical and molecular findings of neurofibromatosis type 1: Identification of three novel mutations of the NF1 gene. Aymelek, Huri Sema; Ozcan, Aysegul Jun 1, 2019 221
A rare HNF1A gene mutation in a Turkish family with maturity-onset diabetes of the young (MODY). Moballegh, Asef; Dogan, Ozlem; Kargun, Sinem; Yilmaz, Nuster; Manguoglu, Esra Jun 1, 2019 265
Glutaric aciduria type 2: A case report. Yildiz, Ayca; Bora, Elcin Jun 1, 2019 270
CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of three novel mutations. Ates, Esra Arslan; Onay, Huseyin; Ertam, Ilgen; Ataman, Esra; Hazan, Filiz; Durmaz, Asude; Dereli, T Jun 1, 2019 304
Genetic factors in male infertility. Gokce, Nuriye; Akalin, Hilal; Mermer, Damla Badur; Basgoz, Neslihan; Dogan, Muhammet Ensar; Ekmekcio Jun 1, 2019 303
JAK2 gene V617F mutation analysis in myeloproliferative diseases. Aynekin, Busra; Gokce, Nuriye; Eser, Bulent; Tascioglu, Nazife; Ozkul, Yusuf; Saatci, Cetin; Dundar, Jun 1, 2019 295
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 1, 2019 5683
Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey. Sayan, Saadet; Kotan, Dilcan; Gundogdu-Eken, Asli; Sahbaz, Irmak; Kocoglu, Cemile; Basak, A. Nazli Clinical report Jun 1, 2019 2982
Increased EGFR mRNA Expression Levels in Non-Small Cell Lung Cancer. Tasdemir, Sener; Taheri, Serpil; Akalin, Hilal; Kontas, Olgun; Onal, Omer; Ozkul, Yusuf Jun 1, 2019 6526
Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified. Gurel, Gulhan; Cilingir, Oguz; Kutluay, Ozden; Arslan, Serap; Sahin, Sevinc; Colgecen, Emine Letter to the editor Jun 1, 2019 1651
Placental Ageing in Adverse Pregnancy Outcomes: Telomere Shortening, Cell Senescence, and Mitochondrial Dysfunction. Manna, Samprikta; McCarthy, Cathal; McCarthy, Fergus P. Jun 1, 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 1, 2019 7287
Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant. Husnain, Muhammad; Wang, Trent; Valdes, Maikel; Hoffman, James; Lekakis, Lazaros Jun 1, 2019 1864
Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review. Alsaedi, Nasser G.; Alrubaie, Khalid Jun 1, 2019 2262
Challenges in Managing Patients with Hereditary Cancer at Gynecological Services. Ueda, Mako; Tsubamoto, Hiroshi; Kashima-Morii, Mina; Torii, Yoshitaka; Kamihigashi, Mariko; Wakimoto Jun 1, 2019 5280
Could a vaccine help treat colon cancer? DR MIRIAM STOPPARD; Helping to keep you fit and healthy. May 31, 2019 404
DNA discovery gives hope; Dogs: Study shows link between gene and breathing woes in certain breeds. May 17, 2019 250
This genetic mutation makes people feel full. May 8, 2019 1125
Gene that reduces fear, increases social interaction ability found. May 2, 2019 588
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report. Moghanloo, Ehsan; Morovvati, Ziba; Seifi, Maghsoud; Minoochehr, Fatemeh; Morovvati, Saeid; Teimouria Report May 1, 2019 1446
Urinary Bladder Pathology: World Health Organization Classification and American Joint Committee on Cancer Staging Update. Wang, Gang; McKenney, Jesse K. Report May 1, 2019 4919
Molecular Testing Strategies for Pulmonary Adenocarcinoma: An Optimal Approach With Cost Analysis. Layfield, Lester J.; Hammer, Richard D.; White, Sandra K.; Furtado, Larissa V.; Schmidt, Robert L. Report May 1, 2019 5183
Succinate Dehydrogenase-Deficient Renal Cell Carcinoma. Tsai, Tsung-Heng; Lee, Wen-Ying Report May 1, 2019 3064
The Effect of Mitochondrial DNA Mutations in Brain Tumors. Erbayraktar, Zubeyde; Hasimoglu, Zeynep; Erbayraktar, R. Serhat May 1, 2019 4341
Gene mutations may predispose women to alopecia subtype. Splete, Heidi May 1, 2019 443
Genetics of hair texture have implications for therapy. May 1, 2019 328
DETECTION OF ALPHA-1 ANTITRYPSIN GENE MUTATIONS BY POLYMERASE CHAIN REACTION IN PATIENTS WITH CHRONIC OBSTRUCTIVE PULMONARY DISEASE/DETEKCIJA MUTACIJA GENA ZA [ALFA.sub.1]-ANTITRIPSIN PRIMENOM LANCANE REAKCIJE POLIMERAZE KOD PACIJENATA SA HRONICNOM OPSTRUKTIVNOM BOLESTI PLUCA. Maletic, Jelena Stojcevic; Baculov, Katarina; Sekerus, Vanesa; Vucinic, Natasa; Milanovic, Borko; Ba May 1, 2019 4267
Tumor Mutation Load: A Novel Independent Prognostic Factor in Stage IIIA-N2 Non-Small-Cell Lung Cancer. Kang, Jingjing; Luo, Yang; Wang, Di; Men, Yu; Wang, Jianyang; Che, Yi-Qun; Hui, Zhouguang May 1, 2019 4285
Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation. Timothy, Leander D.; Lehrke, Heidi D.; Chandan, Vishal S.; Kolbe, Amy B.; Furuya, Katryn N. May 1, 2019 2157
Polygenic Risk Scores That Predict Common Diseases Using Millions of Single Nucleotide Polymorphisms: Is More, Better? Janssens, A. Cecile J.W.; Joyner, Michael J. May 1, 2019 2230
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency. Zhao, Mei; Hou, Lingling; Teng, Huajing; Li, Jinchen; Wang, Jiesi; Zhang, Kunlin; Yang, Lin May 1, 2019 4255
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
Genetic metabolic disorder linked with DNA mutation, claims study. Apr 16, 2019 652
Graduate writes new book on 'Understanding BRCA'. Apr 10, 2019 311
At 71, she's never felt pain. Now scientists know why. Apr 10, 2019 1191
SALIVARY GLAND ONCOCYTOMA AND EVOLUTION OF ONCOCYTES. Amin, Reshma; Shetty, Pushparaja Report Apr 8, 2019 2083
A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus/Status Epileptikus ile Basvuran Pridoksin Bagimli Epilepsi Olgusu. Ayca, Senem; Celebi, Hamide Betul Gerik; Cam, Sirri; Polat, Muzaffer Clinical report Apr 1, 2019 1489
Leukemia: From Initial Gene Mutation to Survivorship Support. Brief article Apr 1, 2019 116
High Frequency of MYD88 L265P Mutation in Primary Ocular Adnexal Marginal Zone Lymphoma and Its Clinicopathologic Correlation: A Study From a Single Institution. Behdad, Amir; Zhou, Xiao Yi; Gao, Juehua; Raparia, Kirtee; Dittman, David; Green, Stefan J.; Qi, Cha Report Apr 1, 2019 6707
A Way to Prevent Inherited Diseases. Brief article Apr 1, 2019 295
Mutant Gene Controls How Stem Cells Become Skin Cells. Apr 1, 2019 186
The Polymorphic Analysis of the Human Potassium Channel KCNE Gene Family in Meniere's Disease-A Preliminary Study. Dai, Qingqing; Wang, Dan; Zheng, Hong Report Apr 1, 2019 3931
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 1, 2019 4855
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome. Jiang, Zhixin; Zhang, Yinan; Yan, Jingbin; Li, Fengwen; Geng, Xinqian; Lu, Huijuan; Wei, Xiaoer; Fen Apr 1, 2019 5381
Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature. Cappellani, Daniele; Brancatella, Alessandro; Kaufmann, Martin; Minucci, Angelo; Vignali, Edda; Cana Apr 1, 2019 4799
Pallister-Hall Syndrome Presenting in Adolescence. Mahtabfar, Aria; Buckley, Niall; Murphy, Susan; Danish, Shabbar; Marshall, Ian Apr 1, 2019 2072
Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer. Mamidi, Tarun Karthik Kumar; Wu, Jiande; Hicks, Chindo Apr 1, 2019 7494
Analysis of the Complete Genome Sequence of a Novel, Pseudorabies Virus Strain Isolated in Southeast Europe. Csabai, Zsolt; Tombacz, Dora; Deim, Zoltan; Snyder, Michael; Boldogkoi, Zsolt Apr 1, 2019 9825
Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship? Salehzadeh, Farhad; Anari, Hassan; Sarkhanloo, Sepehr Apr 1, 2019 2676
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 1, 2019 3290
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Gran 'feels no pain' even when she gave BIRTH due to her mutated genes; Jo Cameron says childbirth was "quite enjoyable", nothing scares her and she doesn't feel pain when she suffers cuts or burns. Mar 28, 2019 765
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman Feels Almost No Pain After Rare Genetic Mutation. Mar 28, 2019 523
Prioritizing Substances of Genotoxic Concern for In-Depth Safety Evaluation Using Non-Animal Approaches: The Example of Food Contact Materials. Van Bossuyt, Melissa; Van Hoeck, Els; Vanhaecke, Tamara; Rogiers, Vera; Mertens, Birgit Report Mar 22, 2019 9888
Vertex Receives Australia Approval for Symdeko to Treat the Underlying Cause of Cystic Fibrosis in People aged 12 and Older with Certain CFTR Gene Mutations. Mar 12, 2019 300
Scientists Identify A Mutant Gene In Fish That Helps Control Stem Cells. Mar 11, 2019 384
Clinigen Partners with Eiger BioPharmaceuticals to Launch Worldwide Managed Access Programme for Lonafarnib for Patients with Progeria and Progeroid Laminopathies. Mar 5, 2019 807
Bulldogs Shed Light on Human Syndrome: A similar DNA mutation is found in Robinow syndrome. Mar 1, 2019 237
Histone Deacetylase Inhibitors: A Prospect in Drug Discovery/Histon Deasetilaz inhibitorleri: ilac Kesfinde Bir Aday. Yadav, Rakesh; Mishra, Pooja; Yadav, Divya Report Mar 1, 2019 6812
'Cruel' disease robbed little girl of speech and movement months after she learnt to walk and talk; Ben Stewart is fighting to raise funds for research into Rett Syndrome, a rare genetic mutation which leaves his daughter Penny unable to walk, talk or care for herself. Mar 1, 2019 628
The Progress of Next Generation Sequencing in the Assessment of Myeloid Malignancies. Puyan, Fulya Oz; Alkan, Serhan Report Mar 1, 2019 8692
Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses. Hoan, Tiffany K.; Albert, Daniel A. Report Mar 1, 2019 4790
Exon 2: Is it the good police in familial mediterranean fever? Bilge, Sule Yasar; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, Levent; Oner, Sibel Yilmaz; Report Mar 1, 2019 3048
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort. Touzon, Maria Sol; Garrido, Natalia Perez; Marino, Roxana; Ramirez, Pablo; Costanzo, Mariana; Guerci Report Mar 1, 2019 5807
Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome. Coles, Nicole; Comeau, Ian; Munoz, Tatiana; Harrington, Jennifer; Mendoza-Londono, Roberto; Schulze, Report Mar 1, 2019 2228
A New Variant of Teaching Learning Based Optimization Algorithm for Global Optimization Problems. Kumar, Yugal; Dahiya, Neeraj; Malik, Sanjay; Khatri, Savita Mar 1, 2019 7027
Medullary Thyroid Carcinoma and Papillary Thyroid Carcinoma in the Same Patient as a Collision Tumour. Dikbas, Oguz; Duman, Aslihan Alpaslan; Guvendi, Gulname Findik Mar 1, 2019 2046
Precise Detection of Gene Mutations in Fine-Needle Aspiration Specimens of the Papillary Thyroid Microcarcinoma Using Next-Generation Sequencing. Yu, Feng-xia; Hu, Min-xia; Zhao, Han-xue; Niu, Li-juan; Rong, Xue-yu; Li, Wei-hua; Zhu, Qiang; Ying, Mar 1, 2019 5062
Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study. Mansour, Amal R.; Shayeb, Ayman El-; Habachi, Nihal El; Khodair, Mohamad A.; Elwazzan, Doaa; Abdeen, Mar 1, 2019 3265
Remodelling and Improvements in Organoid Technology to Study Liver Carcinogenesis in a Dish. Tharehalli, Umesh; Svinarenko, Michael; Lechel, Andre Mar 1, 2019 5652
Genotypic and Phenotypic Variables Affect Meiotic Cell Cycle Progression, Tumor Ploidy, and Cancer-Associated Mortality in a brca2-Mutant Zebrafish Model. Mensah, L.; Ferguson, J.L.; Shive, H.R. Mar 1, 2019 11502
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. Xiang, Qin; Yuan, Lamei; Cao, Yanna; Xu, Hongbo; Li, Yunfeiyang; Deng, Hao Mar 1, 2019 4207
Interleukin-1 Beta Gene Polymorphism rs16944 May Associate with Increased Susceptibility to Extremity Chronic Osteomyelitis in Chinese Han Population. Yao, Zi-long; Lin, Qing-rong; Hu, Yan-jun; Hou, Yi-long; Ma, Yun-fei; Yu, Bin; Jiang, Nan Mar 1, 2019 5687
Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families. Report Feb 28, 2019 4120
PHOSPHOTENSIN TUMOUR SUPPRESSOR GENE (PTEN) EXPRESSION PATTERNS IN ENDOMETRIAL HYPERPLASIAS AND ENDOMETRIOID CARCINOMA. Sithara, S.; Varghese, Sheela; Sankar, S. Report Feb 18, 2019 2077
uniQure announces two studies published. Feb 15, 2019 169
RDx BioScience Genetic Risk Testing Identifies Harmful Mutation in BRCA1 or BRCA2 Human Genes Indicating Higher Likelihood of Breast Cancer. Feb 6, 2019 225
Autism Study Focuses on Epigenetics. Feb 1, 2019 359
Genetic Susceptibility to Common Cold Found. Feb 1, 2019 433
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
A Highly Verified Assay for KRAS Mutation Detection in Tissue and Plasma of Lung, Colorectal, and Pancreatic Cancer. Li, Jing; Gan, Stephanie; Blair, Alan; Min, Kyungji; Rehage, Taraneh; Hoeppner, Corey; Halait, Harka Report Feb 1, 2019 5288
A Diagnostic Challenge: Erdheim Chester Disorder/Zor Bir Tani: Erdheim Chester Hastaligi. Razi, Mairah; Qubtia, Maria; Hassan, Aamna; Hassan, Mudassar; Hameed, Abdul Feb 1, 2019 635
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
AN UNUSUAL LOCATION OF COMPLEX ODONTOME--A DIAGNOSTIC DILEMMA. Selvam S., Saravana; Chandana, C.S.; Indumathi, M.; Pavithra; Krishnan, C.S. Case study Jan 14, 2019 1759
Linear epidermal nevi. Kaushik, Anshika; Eichenfield, Lawrence F. Jan 1, 2019 651
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
A Leucisitic Fisher (Pekania pennanti) and the Prevalence of Leucism in Wild Carnivores. Olson, Lucas O.; Allen, Maximilian L. Report Jan 1, 2019 2012
Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing. Cao, Yan-Yan; Zhang, Wen-Hui; Qu, Yu-Jin; Bai, Jin-Li; Jin, Yu-Wei; Wang, Hong; Song, Fang Report Dec 20, 2018 4802
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
Prenatal detection of Peters plus-like syndrome/Peters-plus benzeri sendromun prenatal tanisi. Canda, Mehmet Tunc; Caglayan, Latife Doganay; Demir, Ayse Banu; Demir, Namik Clinical report Dec 1, 2018 1464
RADIYAL ISIN DEFEKTLERININ KLINIK SINIFLANDIRMASI VE ETYOPATOGENEZININ ARASTIRILMASI/CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS. Avci, Sahin; Toksoy, Guven; Bagirova, Gulendam; Altunoglu, Umut; Karaman, Birsen; Basaran, Seher; Ka Dec 1, 2018 7578
SCN1A geninde yeni bir mutasyonun tanimlandigi Dravet Sendromu olgusu/A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene. Tuncer, Gokcen Oz; Teber, Serap; Albayrak, Pelin; Kutluk, Muhammet Gultekin; Deda, Gulhis Report Dec 1, 2018 1675
'Mutant' Belgian Blue bull stuns with shockingly muscle-bound body; Some claim the breed are injected with steroids but their unusual physique comes from a naturally occurring 'double muscling' mutation. Dec 1, 2018 549
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria. Hasani-Ranjbar, Shirin; Ejtahed, Hanieh-Sadat; Amoli, Mahsa M.; Bitarafan, Fatemeh; Qorbani, Mostafa Dec 1, 2018 4330
A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus. Tayfur, Asli Celebi; Karaduman, Tugce; Turkmen, Merve Ozcan; Sahin, Dilara; Yilmaz, Aysun Caltik; Bu Dec 1, 2018 3664
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia. Cetin, Tugba; Siklar, Zeynep; Kocaay, Pinar; Berberoglu, Merih Dec 1, 2018 2667
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene. Unal, Edip; Yildirim, Ruken; Tas, Funda Feryal; Demir, Vasfiye; Onay, Huseyin; Haspolat, Yusuf Kenan Dec 1, 2018 3193
A Novel Mutation of AMHR2 in Two Siblings with Persistent Mullerian Duct Syndrome. Unal, Edip; Yildirim, Ruken; Tekin, Suat; Demir, Vasfiye; Onay, Huseyin; Haspolat, Yusuf Kenan Dec 1, 2018 2579
Familial Mediterranean fever with recurrent erysipelas-like erythema and myalgia: A case report. Mengi, Alper; Ozdolap, Senay Dec 1, 2018 1500
Cholesterol Genetics. Dec 1, 2018 237
Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy. Lin, Hui-Ting; Liu, Xiao; Zhang, Wei; Liu, Jing; Zuo, Yue-Huan; Xiao, Jiang-Xi; Zhu, Ying; Yuan, Yun Report Dec 1, 2018 4860
Cloning of Presenilin 2 cDNA and Construction of Vectors Carrying Effective Mutations in the Pathogenesis of Familial Alzheimer's Disease. Oztan, Gozde; Yokes, Baki; issever, Halim Dec 1, 2018 6424

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