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1-220 out of 220 article(s)
Title Author Type Date Words
Polyclonal spread of colistin resistant Klebsiella pneumoniae in Croatian hospitals and outpatient setting. Tot, Tatjana; Kibel, Sara; Sardelic, Sanda; Nemer, Khalil; Bencic, Ana; Vranes, Jasmina; Krilanovic, Jun 1, 2021 7656
Targeted Hot Spot Sequencing of Uzbek Lung Cancer Patients. Mirakbarova, Z.; Turdikulova, Sh Report Mar 1, 2021 3007
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation. Ciorba, Andrea; Corazzi, Virginia; Melegatti, Michela; Morgan, Anna; Pelliccione, Giulia; Girotto, G Jan 1, 2021 1783
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. Danda, Vijay Sheker Reddy; Paidipelly, Srinivas Rao; Verepula, Madhavi; Lodha, Piyush; Thaduri, Kris Jan 1, 2021 5371
Multivariable Analysis of 169 Cases of Advanced Cutaneous Melanoma to Evaluate Antibiotic Exposure as Predictor of Survival to Anti-PD-1 Based Immunotherapies. Swami, Umang; Chennamadhavuni, Adithya; Borcherding, Nicholas; Bossler, Aaron D.; Mott, Sarah L.; Ga Nov 1, 2020 4591
Helicobacter pylori Primary and Secondary Genotypic Resistance to Clarithromycin and Levofloxacin Detection in Stools: A 4-Year Scenario in Southern Italy. Losurdo, Giuseppe; Giorgio, Floriana; Pried, Maria; Girardi, Bruna; Russo, Francesco; Riezzo, Giusep Clinical report Oct 1, 2020 3821
The importance of Mediterranean fever gene in familial Mediterranean fever. Kehribar, Demet Yalcin; Ozgen, Metin Report Oct 1, 2020 2635
Exploring the Genetic Background of the Differences in Nest-Building Behavior in European Rabbit. Benedek, Ildiko; Altbacker, Vilmos; C., Attila Zsolnai; Molnar, Tamas Report Sep 1, 2020 6455
Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study. Cadi, Chaimaa Ait El; Charoute, Al Mehdi Krami Hicham; Elkarhat, Zouhair; Sifeddine, Najat; Lakhiari Report Aug 31, 2020 5744
Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer. Wu, Jiande; Mamidi, Tarun K.K.; Zhang, Lu; Hicks, Chindo Jul 31, 2020 11240
Myriad Genetics announces publication of two riskScore analyses. Jul 7, 2020 299
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data. Long, Wei; Zhou, Lingna; Wang, Ying; Liu, Jiaxuan; Wang, Huaiyan; Yu, Bin Jun 30, 2020 5410
Identification of 5 Gene Signatures in Survival Prediction for Patients with Lung Squamous Cell Carcinoma Based on Integrated Multiomics Data Analysis. Ma, Hongxia; Tong, Lihong; Zhang, Qian; Chang, Wenjun; Li, Fengsen Jun 30, 2020 7593
Human Stem Cells Modeled To Identify Degeneration In Glaucoma. Jun 15, 2020 613
A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs. Detilleux, Johann. C. Jun 1, 2020 5304
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
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
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
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
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
The gene-culture coevolution theory. Dec 13, 2019 637
Metaplastic Breast Carcinoma: Update on Histopathology and Molecular Alterations. McMullen, Emily R.; Zoumberos, Nicholas A.; Kleer, Celina G. Dec 1, 2019 3740
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
Cupid and Psyche system for the diagnosis and treatment of advanced cancer. Sugiyama, Akira; Kawamura, Takeshi; Tanaka, Toshiya; Doi, Hirofumi; Yamashita, Takefumi; Shinoda, Ke Disease/Disorder overview Dec 1, 2019 4525
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 30, 2019 4357
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
Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers. Mamidi, Tarun Karthik Kumar; Wu, Jiande; Hicks, Chindo Nov 30, 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 30, 2019 5237
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
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
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 30, 2019 2610
AstraZeneca, Merck presents results from Phase 3 PROfound trial of LYNPARZA. Sep 30, 2019 545
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
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
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
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
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 31, 2019 4285
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 31, 2019 4255
Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer. Mamidi, Tarun Karthik Kumar; Wu, Jiande; Hicks, Chindo Apr 30, 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 30, 2019 9825
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
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
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 31, 2019 5687
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 31, 2019 3265
The Progress of Next Generation Sequencing in the Assessment of Myeloid Malignancies. Puyan, Fulya Oz; Alkan, Serhan Report Mar 1, 2019 8692
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
The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula. Baran, Masallah; Appak, Yeliz Cagan; Garipcin, Pinar; Demircelik, Yavuz; Pala, Emel Ebru; Ozyilmaz, Dec 1, 2018 1976
Nobel Laureate Michael Morris Rosbash: A scientometric portrait. Kumar, Mohit; Kumar, Surjeet; Ruhela, Arun Nov 1, 2018 4922
Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing. Mansukhani, Sonia; Barber, Louise J.; Kleftogiannis, Dimitrios; Moorcraft, Sing Yu; Davidson, Michae Nov 1, 2018 5730
Nobel Laureate Jeffrey C Hall: A Scientometric Portrait. Kumar, Mohit; Ruhela, Arun; Kumar, Surjeet Nov 1, 2018 4932
p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population. Zahra, Sana Report Jun 30, 2018 2705
The Distribution of Different Types of Diabetes in Childhood: A Single Center Experience. Haliloglu, Belma; Abali, Saygin; Bugrul, Fuat; Celik, Enes; Bas, Serpil; Atay, Zeynep; Guran, Tulay; Report Jun 1, 2018 4244
Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China. Zhao, Hui-Hui; Sun, Xue-Ping; Shi, Ming-Chao; Yi, Yong-Xiang; Cheng, Hong; Wang, Xing-Xia; Xu, Qing- Report Apr 15, 2018 4188
What do we gain from liquid biopsy tests in lung cancer? We asked Michael Apostolis, MD. Interview Apr 1, 2018 680
Colorectal Carcinomas With Isolated Loss of PMS2 Staining by Immunohistochemistry. Alpert, Lindsay; Pai, Reetesh K.; Srivastava, Amitabh; McKinnon, Wendy; Wilcox, Rebecca; Yantiss, Rh Report Apr 1, 2018 5316
Characterization of the porcine Nanog 5'-flanking region. Memon, Azra; Song, Ki-Duk; Lee, Woon Kyu Report Mar 1, 2018 4672
Deactivated CRISPR Associated Protein 9 for Minor-Allele Enrichment in Cell-Free DNA. Aalipour, Amin; Dudley, Jonathan C.; Park, Seung-min; Murty, Surya; Chabon, Jacob J.; Boyle, Evan A. Feb 1, 2018 5660
Genomic Variability among Field Isolates and Laboratory-Adapted Strains of Leptospira borgpetersenii Serovar Hardjo. Llanes, Alejandro; Restrepo, Carlos Mario; Riesgo-Ferreiro, Pablo; Rajeev, Sreekumari Jan 1, 2018 8653
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
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles. Smaragda, Kamakari; Vassiliki, Kokkinou; George, Koutsodontis; Polixeni, Stamatiou; Christoforos, Gi Jan 1, 2018 7609
Modelling Cooperative Tumorigenesis in Drosophila. Richardson, Helena E.; Portela, Marta Jan 1, 2018 22965
Heteroplasmy Detection of Mitochondrial DNA A3243G Mutation Using Quantitative Real-Time PCR Assay Based on TaqMan-MGB Probes. Rong, Enguang; Wang, Hanbo; Hao, Shujing; Fu, Yuhong; Ma, Yanyan; Wang, Tianze Jan 1, 2018 5099
Mutational Profile of Metastatic Breast Cancer Tissue in Patients Treated with Exemestane Plus Everolimus. Omarini, Claudia; Filieri, Maria Elisabetta; Bettelli, Stefania; Manfredini, Samantha; Kaleci, Shani Clinical report Jan 1, 2018 4890
Quasispecies Changes with Distinctive Point Mutations in the Hepatitis C Virus Internal Ribosome Entry Site (IRES) Derived from PBMCs and Plasma. Mercuri, Luca; Thomson, Emma C.; Hughes, Joseph; Karayiannis, Peter Report Jan 1, 2018 6179
Predictive and Prognostic Implications of Mutation Profiling and Microsatellite Instability Status in Patients with Metastatic Colorectal Carcinoma. Liu, Jianhua; Zeng, Weiqiang; Huang, Chengzhi; Wang, Junjiang; Yang, Dongyang; Ma, Dong Jan 1, 2018 7892
Prevalence of Epidermal Growth Factor Receptor Mutations in Patients with Non-Small Cell Lung Cancer in Turkish Population. Tezel, Gaye Guler; Sener, Ebru; Aydin, Cisel; Onder, Sevgen Nov 1, 2017 3095
The Frequency and Importance of Common [alpha]-globin Gene Deletions Among [beta]-Thalassemia Carriers in an Iranian Population. Moosavi, Azam; Ardekani, Ali M. Report Oct 1, 2017 3290
Molecular biology of glioblastoma: Classification and mutational locations. Sep 28, 2017 3691
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents. Tunc, Selma; Demir, Korcan; Tukun, Fatma Ajlan; Topal, Cihan; Hazan, Filiz; Saglam, Burcu; Nalbantog Sep 1, 2017 3919
Reducing Artifactual EGFR T790M Mutations in DNA from Formalin-Fixed Paraffin-Embedded Tissue by Use of Thymine-DNA Glycosylase. Do, Hongdo; Molania, Ramyar; Mitchell, Paul L.; Vaiskunaite, Rita; Murdoch, John D.; Dobrovic, Alexa Report Sep 1, 2017 5545
Identification of Single-Base Mismatches in Pneumocystis jirovecii Isolated from Iranian TB positive Patients by CSGE Heteroduplex. Ghayoum, Saeideh Amani; Shams-Ghahfarokhi, Masoomeh; Razzaghi-Abyaneh, Mehdi; Ghalehbin, Behnam Moha Report Sep 1, 2017 2933
Neanderthal DNA Reveals Human Evolution Timeline. Chronology Aug 8, 2017 558
Single-Nucleotide Polymorphism Leading to False Allelic Fraction by Droplet Digital PCR. Christenson, Eric S.; Dalton, W. Brian; Chu, David; Waters, Ian; Cravero, Karen; Zabransky, Daniel J Report Aug 1, 2017 4083
Follicular morphological characteristics may be associated with invasion in follicular thyroid neoplasms with papillary-like nuclear features. Can, Nuray; Celik, Mehmet; Sezer, Yavuz Atakan; Ozyilmaz, Filiz; Ayturk, Semra; Tastekin, Ebru; Sut, Report Aug 1, 2017 6346
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
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
Today's stem cell modeling techniques can't probe genetic variations. Mar 27, 2017 556
Gender-based cancer treatments may develop. Marcom, Paul Kelly Feb 1, 2017 155
A novel deletion mutation of exon 2 of the C19orf12 gene in an Omani Family with mitochondrial membrane protein- associated neurodegeneration (MPAN). Macki, Nabil Al; Rashdi, Ismail Al Case study Jan 1, 2017 1537
Cholesterol Levels in Genetically Determined Familial Hypercholesterolemia in Russian Karelia. Korneva, V.A.; Kuznetsova, T.Yu.; Bogoslovskaya, T.Yu.; Polyakov, D.S.; Vasilyev, V.B.; Orlov, A.V.; Report Jan 1, 2017 3879
Novel Implications in Molecular Diagnosis of Lynch Syndrome. Liccardo, Raffaella; Rosa, Marina De; Izzo, Paola; Duraturo, Francesca Report Jan 1, 2017 9099
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
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. Alshaikh, H.; Alsaif, F.; Aldukhi, S. Report Jan 1, 2017 7536
Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy. Gee, Peter; Xu, Huaigeng; Hotta, Akitsu Report Jan 1, 2017 8333
Yin-Cold or Yang-Heat Syndrome Type of Traditional Chinese Medicine Was Associated with the Epidermal Growth Factor Receptor Gene Status in Non-Small Cell Lung Cancer Patients: Confirmation of a TCM Concept. Zhu, Yan-juan; Zhang, Hai-bo; Liu, Li-rong; Liu, Yi-hong; Zhang, Fu-li; Bai, Jian-ping; Li, Yong; Qu Jan 1, 2017 5259
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. Perez, Yonatan; Wormser, Ohad; Sadaka, Yair; Birk, Ruth; Narkis, Ginat; Birk, Ohad S. Report Jan 1, 2017 3407
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. Zhou, Cheng; Wen, Guang-Dong; Soe, Lwin; Xu, Hong-Jun; Du, Juan; Zhang, Jian-Zhong Report Dec 5, 2016 2969
Microsatellite instability and B-type Raf proto-oncogene mutation in colorectal cancer: Clinicopathological characteristics and effects on survival. Batur, Sebnem; Bakkaloglu, Dogu Vuralli; Kepil, Nuray; Erdamar, Sibel Nov 1, 2016 5304
NOD2/CARD15 gene mutations in patients with gouty arthritis. Karaarslan, Ahmet; Kobak, Senol; Berdeli, Afig Nov 1, 2016 2333
Analysis of Base-Position Error Rate of Next-Generation Sequencing to Detect Tumor Mutations in Circulating DNA. Pecuchet, Nicolas; Rozenholc, Yves; Zonta, Eleonora; Pietraz, Daniel; Didelot, Audrey; Combe, Pierre Nov 1, 2016 6355
A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5. Liu, Li-Zhi; Ren, Ming; Li, Mao; Ren, Yu-Ting; Sun, Bo; Sun, Xiao-Sun; Chen, Si-Yu; Li, Si-Yuan; Hua Report Oct 20, 2016 530
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up. Finsterer, Josef; Zarrouk-Mahjoub, Sinda Report Oct 20, 2016 696
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation. Yu, Meng; Yu, Lei; Wang, Zhao-Xia Report Oct 20, 2016 1035
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. Jin, Su-Qin; Yu, Meng; Zhang, Wei; Lyu, He; Yuan, Yun; Wang, Zhao-Xia Report Oct 5, 2016 4194
A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia. Zhou, Wei-Dong; Liu, Cheng-Hao; Yin, Xiao-Min; Zeng, Qing-Yu Report Sep 20, 2016 1020
The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study. Siklar, Zeynep; Genens, Mikayir; Poyrazoglu, Sukran; Bas, Firdevs; Darendeliler, Feyza; Bundak, Ruve Report Sep 1, 2016 5522
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients. Sun, Bo; Chen, Zhao-Hui; Ling, Li; Li, Yi-Fan; Liu, Li-Zhi; Yang, Fei; Huang, Xu-Sheng Report Sep 1, 2016 3510
A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease. Liu, Lin-Yu; Liu, Fei; Du, Si-Chen; Jiang, Sha-Yi; Wang, Hui-Jun; Zhang, Jin; Wang, Wei; Ma, Duan Report Sep 1, 2016 4057
Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA. Xia, Chang-Yu; Liu, Yu; Liu, Hui; Zhang, Yan-Chun; Ma, Yi-Nan; Qi, Yu Report Aug 20, 2016 3711
Idebenone Maintains Survival of Mutant Myocilin Cells by Inhibiting Apoptosis. Guan, Yue; Li, Juan; Zhan, Tao; Wang, Jian-Wen; Yu, Jian-Bo; Yang, Lan Report Aug 20, 2016 1790
Supplements may prevent hereditary deafness. Brief article Aug 1, 2016 193
In Silico Analysis of Missense Substitutions in RB1 Gene and Their Effect on Metabolic Pathways. Report Jun 30, 2016 2668
Incidence and types of haemoglobinopathies in tea garden community around dibrugarh. Deori, Rashmi; Borah, Asha Report Jun 30, 2016 2516
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature. Delil, Kenan; Karabulut, Halil Gurhan; Hacihamdioglu, Bulent; Siklar, Zeynep; Berberoglu, Merih; Oca Report Jun 1, 2016 4337
A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty. Kocyigit, Cemil; Saritas, Serdar; Qatli, Gonul; Onay, Huseyin; Dundar, Bumin Nuri Case study Jun 1, 2016 2898
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
AN EPIDEMIOLOGICAL STUDY OF THIOPURINE-METHYLTRANSFERASE VARIANTS IN A CROATIAN INFLAMMATORY BOWEL DISEASE PATIENT COHORT. Ladic, Agata; Bozina, Nada; Borzan, Vladimir; Brinar, Marko; Vucelic, Boris; Cukovic-Cavka, Silvija Report Mar 1, 2016 4296
Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population. Gertz, Ryan J.; Nikiforov, Yuri; Rehrauer, William; McDaniel, Lee; Lloyd, Ricardo V. Feb 1, 2016 5585
Low-Dose Methylmercury-Induced Apoptosis and Mitochondrial DNA Mutation in Human Embryonic Neural Progenitor Cells. Wang, Xinjin; Yan, Mengling; Zhao, Lina; Wu, Qing; Wu, Chunhua; Chang, Xiuli; Zhou, Zhijun Jan 1, 2016 5563
An Improved Global Harmony Search Algorithm for the Identification of Nonlinear Discrete-Time Systems Based on Volterra Filter Modeling. Li, Zongyan; Li, Deliang Jan 1, 2016 8196
Novel Mutations in the 3[beta]-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis. Huang, He-Yu; Zhou, Hua; Wang, Hong; Chen, Ya-Xian; Fang, Feng Report Jan 1, 2016 1436
Myotonic Dystrophy Type 1 Associated with White Matter Hyperintense Lesions: Clinic, Imaging, and Genetic Analysis. Liu, Lei; Liu, Hui-Miao; Liu, Zun-Jing; Zhang, Lin-Wei; Gu, Wei-Hong; Wang, Ren-Bin Report Oct 1, 2015 1861
Circulating Tumor DNA Outperforms Circulating Tumor Cells for KRAS Mutation Detection in Thoracic Malignancies. Freidin, Maxim B.; Freydina, Dasha V.; Leung, Maria; Fernandez, Angeles Montero; Nicholson, Andrew G Report Oct 1, 2015 4112
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
Hyperimmunoglobulin D syndrome: case report. Sen, Hacer; Silan, Fatma; Binnetoglu, Emine; Gunes, Fahri; Akurut, Cisem; Uludag, Ahmet; Ozdemir, Oz Sep 1, 2015 1451
K-ras codon 12 and not TP53 mutations are predominant in advanced colorectal cancers. Zhunussova, G.; Djansugurova, L.; Khussainova, E.; Zhunusbekova, B.; Afonin, G.; Khaidarova, D.; Mat Report Aug 1, 2015 4228
Unusual case of Van Der Knaap's Disease presenting at 2 years of age following head trauma. Jani, Ishaan; Aironi, V.D.; Chitnis, Ashutosh; Kapoor, Priti; Gursale, Abhay Case study Jul 27, 2015 1217
Evaluation of Intraductal Ultrasonography, Endoscopic Brush Cytology and K-ras, P53 Gene Mutation in the Early Diagnosis of Malignant Bile Duct Stricture. Huang, Ping; Zhang, Hao; Zhang, Xiao-Feng; Zhang, Xiao; Lyu, Wen; Fan, Zhen Report Jul 20, 2015 4187
Noninvasive detection of activating estrogen receptor 1 (ESR1) mutations in estrogen receptor-positive metastatic breast cancer. Guttery, David S.; Page, Karen; Hills, Allison; Woodley, Laura; Marchese, Stephanie D.; Rghebi, Basm Report Jul 1, 2015 5389
Molecular and Histologic Considerations in the Assessment of Serrated Polyps. Yang, Hui-Min; Mitchell, James M.; Sepulveda, Jorge L.; Sepulveda, Antonia R. Jun 1, 2015 8604
Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies. Liang, Yingyin; Chen, Songlin; Zhu, Jianzong; Zhou, Xiangxue; Yang, Chen; Yao, Lu; Zhang, Cheng Report May 1, 2015 5456
NOD2/CARD15 mutations in Polish and Bosnian populations with and without Crohn's disease: prevalence and genotype-phenotype analysis. Salkic, Nermin N.; Adler, Grazyna; Zawada, Iwona; Alibegovic, Ervin; Karakiewicz, Beata; Kozlowska-W Report May 1, 2015 4313
Challenges Posed to Pathologists in the Detection of KRAS Mutations in Colorectal Cancers. Dudley, Jonathan; Tseng, Li-Hui; Hooper, Lisa; Harris, Marco; Haley, Lisa; Chen, Guoli; Gocke, Chris Feb 1, 2015 5719
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART). Lv, Weigang; Wei, Xianda; Guo, Ruolan; Liu, Qin; Zheng, Yu; Chang, Jiazhen; Bai, Ting; Li, Haoxian; Report Jan 1, 2015 6016
MEFV gene profile in Northwest of Iran, twelve common MEFV gene mutations analysis in 216 patients with Familial Mediterranean Fever. Salehzadeh, Farhad; Asl, Mehdi Jafari; Asl, Saeid Hosseini; Jahangiri, Sepideh; Habibzadeh, Shahram Report Jan 1, 2015 2611
No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans. Wonkam, A.; Bosch, J.; Noubiap, J.J.N.; Lebeko, K.; Makubalo, N.; Dandara, C. Report Jan 1, 2015 2819
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
Feasibility of low-throughput next generation sequencing for germline DNA screening. Sapari, Nur Sabrina; Elahi, Eiram; Wu, Mengchu; Loh, Marie; Ng, Hong Kiat; Han, Xiao; Yap, Hui Ling; Report Dec 1, 2014 5926
Disease distribution manner of people's body without mutation in DYT1 gene of dystonia disease in Iran. Rahnavard, Sahereh; Hamid, Mohamad; Zand, Zahra Report Jul 23, 2014 2892
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
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
Dynamic of Kirsten ras and isoforms of protein kinasis in the progression of oral potentially malignant to malignant lesions. Kazmi, Farhat; Mumtaz, Muhammad; Qazi, MH Report Mar 31, 2014 3034
Mutation analysis of exons 10 and 17a of CFTR gene in patients with cystic fibrosis in Kermanshah province, western Iran. Sahami, Abbas; Alibakhshi, Reza; Ghadiri, Keyghobad; Sadeghi, Hamid Report Jan 1, 2014 3825
Spectrum of K ras mutations in Pakistani colorectal cancer patients. Murtaza, B.N.; Bibi, A.; Rashid, M.U.; Khan, Y.I.; Chaudri, M.S.; Shakoori, A.R. Report Jan 1, 2014 4638
Commentary. Burman, Kenneth D. Dec 1, 2013 776
Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. Taly, Valerie; Pekin, Deniz; Benhaim, Leonor; Kotsopoulos, Steve K.; Corre, Delphine Le; Li, Xinyu; Report Dec 1, 2013 5887
Fundamentals of pyrosequencing. Harrington, Colleen T.; Lin, Elaine I.; Olson, Matthew T.; Eshleman, James R. Report Sep 1, 2013 4984
Prevalence of K-Ras codons 12 and 13 mutations in locally advanced head and neck squamous cell carcinoma and impact on clinical outcomes. Bissada, Eric; Abboud, Olivier; Chacra, Zahi Abou; Guertin, Louis; Weng, Xiaoduan; Nguyen-Tan, Phuc Report Jan 1, 2013 4374
Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community. Friberg, D.; Chen, T.; Tarr, G.; van Rij, A. Clinical report Jan 1, 2013 4921
Proof of principle for a real-time pathogen isolation media diagnostic: the use of laser-induced breakdown spectroscopy to discriminate bacterial pathogens and antimicrobial-resistant Staphylococcus aureus strains grown on blood agar. Multari, Rosalie A.; Cremers, David A.; Bostian, Melissa L.; Dupre, Joanne M.; Gustafson, John E. Report Jan 1, 2013 5598
New quantitative method to identify NPM1 mutations in acute myeloid leukaemia. Huet, Sarah; Jallades, Laurent; Charlot, Carole; Chabane, Kaddour; Nicolini, Franck E.; Michallet, M Report Jan 1, 2013 3013
Strategies for molecularly enhanced chemotherapy to achieve synthetic lethality in endometrial tumors with mutant p53. Meng, Xiangbing; Dizon, Don S.; Yang, Shujie; Wang, Xinjun; Zhu, Danlin; Thiel, Kristina W.; Leslie, Report Jan 1, 2013 4834
Dissecting major signaling pathways throughout the development of prostate cancer. da Silva, Henrique B.; Amaral, Eduardo P.; Nolasco, Eduardo L.; de Victo, Nathalia C.; Atique, Rodri Jan 1, 2013 17517
COLD-PCR and innovative microarray substrates for detecting and genotyping MPL exon 10 W515 substitutions. Brisci, Angela; Damin, Francesco; Pietra, Daniela; Galbiati, Silvia; Boggi, Sabrina; Casetti, Ilaria Report Dec 1, 2012 5581
Porcine LMNA is a positional candidate gene associated with growth and fat deposition. Choi, Bong Hwan; Lee, Jung Sim; Lee, Seung Hwan; Kim, Seung Chang; Kim, Sang Wook; Kim, Kwan Suk; Le Report Dec 1, 2012 5371
Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Zhang, Wei; Cui, Hong; Wong, Lee-Jun C. Report Sep 1, 2012 6064
Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer. Azuara, Daniel; Ginesta, Mireia M.; Gausachs, Mireia; Rodriguez-Moranta, Francisco; Fabregat, Joan; Report Sep 1, 2012 6127
Stem cell research advances study of causes of Huntington's disease: human model of Huntington's disease created from skin's stem cells. Jul 9, 2012 430
Hurt blocker: the next big pain drug may soothe sensory firestorms without side effects. Ehrenberg, Rachel Jun 30, 2012 2806
Somatic deletions of the polyA tract in the 3' untranslated region of epidermal growth factor receptor are common in microsatellite instability-high endometrial and colorectal carcinomas. Ma, Deqin; Chen, Zhao; Nero, Christopher; Patel, Keyur P.; Daoud, Emad M.; Cheng, Hanyin; Djordjevic May 1, 2012 3816
Molecular changes in Mesothelioma with an impact on prognosis and treatment. Jean, Didier; Daubriac, Julien; Le Pimpec-Barthes, Francoise; Galateau-Salle, Francoise; Jaurand, Ma Mar 1, 2012 17691
FMS-like tyrosine kinase 3 internal tandem duplication and the patterns of its gene sequence in 207 Chinese patients with de novo acute myeloid leukemia. Zhong, Ling; Jia, Yong Qian; Meng, Wen Jong; Ni, Xun Jan 1, 2012 3827
New gene therapy methods accurately correct mutation in patient's stem cells. Oct 24, 2011 706
New gene therapy methods accurately correct mutation in patient's stem cells. Oct 17, 2011 704
Late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. Rashdi, Ismail Al; Ghafri, Mohammed Al; Hanshi, Said Al; Macki, Nabil Al Case study Sep 1, 2011 1987
Mutational analysis of the myocilin gene in primary open angle glaucoma and primary angle closure glaucoma in Indian population. Goyal, Amita; Kaur, Jasbir Abstract Jul 1, 2011 534
Molecular diagnostics in melanoma: current status and perspectives. Dadras, Soheil S. Jul 1, 2011 8140
Biotinylated probe isolation of targeted gene region improves detection of T790M epidermal growth factor receptor mutation via peptide nucleic acid-enriched real-time PCR. Li, Jin; Janne, Pasi A.; Makrigiorgos, G. Mike May 1, 2011 2862
Eli Lilly & Co (Indianapolis IN) and Merck KGaA's (Darmstadt DEU) Erbitux helped a group of cancer patients previously thought to be immune to the treatment in a study that contradicts earlier assumptions of the way the drug works in those with a genetic mutation. Nov 1, 2010 349
Infantile spasms associated with 5q14.3 deletion. Marashly, Ahmad; Riel-Romero, Rosario Maria S.; Ursin, Susonne; Ghawi, Hani Case study Jul 1, 2010 1547
Melodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome. Talwalkar, Sameer S.; Yin, C. Cameron; Naeem, Rizwan C.; Hicks, M. John; Strong, Louise C.; Abruzzo, Jul 1, 2010 4472
BRCA1 gene mutation is linked to low oocyte reserves, study shows. Wendling, Patrice Dec 1, 2009 514
15th Congress of the European Cancer Organization and the 34th European Society for Medical Oncology multidisciplinary congress: GI update. Brown, Vanessa Clinical report Oct 1, 2009 1840
Hypoglycemic and hypolipidemic effects of processed Aloe vera gel in a mouse model of non-insulin-dependent diabetes mellitus. Kim, Kwanghee; Kim, Hyunyul; Kwon, Jeunghak; Lee, Sungwon; Kong, Hyunseok; Im, Sun-A; Lee, Young-Hee Report Sep 1, 2009 4226
Frequency and evolution of azole resistance in Aspergillus fumigatus associated with treatment failure. Howard, Susan J.; Cerar, Dasa; Anderson, Michael J.; Albarrag, Ahmed; Fisher, Matthew C.; Pasqualott Report Jul 1, 2009 6354
Detection of genes mutations in the K-ras, H-ras and EGFR in samples of blood plasma and cervical smears for patients with cervical intraepithelial neoplasia III and cervical cancer/Deteccion de mutaciones en los genes K-ras, H-ras y EGFR en muestras de plasma sanguineo y cepillado cervical de pacientes con neoplasia intraepitelial cervical (NIC) III y cancer de cuello uterino. Garcia, Dabeiba Adriana; Arias, Yazmin Rocio; Aristizabal, Fabio Ancizar Report Jan 1, 2009 3454
Detection of genes mutations in the K-RAS, H-RAS and EGFR in samples of blood plasma and cervical smears for patients with cervical intraepithelial neoplasia III and cervical cancer/Deteccion de mutaciones en los genes K-ras, H-ras y EGFR en muestras de plasma sanguineo y cepillado cervical de pacientes con neoplasia intraepitelial cervical (NIC) III y cancer de cuello uterino. Garcia, Dabeiba Adriana; Arias, Yazmin Rocio; Aristizabal, Fabio Ancizar Report Jan 1, 2009 4058
Utility of oligonucleotide array--based comparative genomic hybridization for detection of target gene deletions. Wong, Lee-Jun C.; Dimmock, David; Geraghty, Michael T.; Quan, Richard; Lichter-Konecki, Uta; Wang, J Jul 1, 2008 3308
Combined heterozygote factor V Leiden mutation and anticardiolipin antibody positivity in a young patient with spontaneous deep vein thrombosis/Kombine heterozigot faktor V Leiden mutasyonu ve antikardiyolipin antikor pozitifligi olan genc bir hastada derin ven trombozu. Karadurmus, Nuri; Ozturk, Cengiz; Sonmez, Alper; Dogru, Teoman; Inal, Satilmis; Tasci, Canturk; Oztu Case study Feb 1, 2008 1269
Mass spectrometry-based detection of hemoglobin E mutation by allele-specific base extension reaction. Tsang, Jason C.H.; Charoenkwan, Pimlak; Chow, Katherine C.K.; Jin, Yongjie; Wanapirak, Chanane; Sang Dec 1, 2007 2487
Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Lim, Kok Seong; Naviaux, Robert K.; Haas, Richard H. Jun 1, 2007 4736
Genetics and skin disease. Wood, E.J. May 1, 2007 772
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Kennerson, Marina L.; Warburton, Trent; Nelis, Eva; Brewer, Megan; Polly, Patsie; De Jonghe, Peter; Clinical report Feb 1, 2007 2248
Predicting Lynch syndrome propensity to cancer: two new models help sort out which patients need extensive genetic testing for the hereditary mutation. Moon, Mary Ann Nov 1, 2006 714
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer. Piccioli, Patrizia; Serra, Martina; Gismondi, Viviana; Pedemonte, Simona; Loiacono, Fabrizio; Lastra Apr 1, 2006 3072
Origin of genetic information and evolution of biological species. Wahid, Pallacken Abdul Jun 22, 2005 11938
Certain measures may help prevent ovarian cancer in high-risk women. Finn, Robert Jun 15, 2005 654
Identification of subtypes of CYP2D gene rearrangements among carriers of CYP2D6 gene deletion and duplication. Ledesma, Maria C.; Agundez, Jose A.G. Jun 1, 2005 3320
Detecting the C282Y and H63D mutations of the HFE gene by Holliday junction-based allele-specific genotyping methods. Yang, Wendy; Yaoi, Takuro; Huang, Shurong; Yang, Qinghong; Hatcher, Sandra; Seet, Henrietta; Gregg, Jan 1, 2005 2071
Denaturing-HPLC-based assay for detection of ABL mutations in chronic myeloid leukemia patients resistant to imatinib. Soverini, Simona; Martinelli, Giovanni; Amabile, Marilina,; Poerio, Angela; Bianchini, Michele; Rost Jul 1, 2004 6541
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Bai, Ren-Kui; Wong, Lee-Jun C. Jun 1, 2004 3107
Colorectal ca founder mutation. Evans, Jeff Brief Article Mar 15, 2004 253
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Yen, Tina; Nightingale, Brian N.; Burns, Jennifer C.; Sullivan, David R.; Stewart, Peter M. Aug 1, 2003 7168
Detection of cystic fibrosis mutations by peptide mass signature genotyping. Malehorn, David E.; Telmer, Cheryl A.; McEwen, Sherri B.; An, Jiyan; Kinsey, Ashley D.; Retchless, A Aug 1, 2003 8530
Rapid detection of [beta]-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. Shaji, Ramachandran V.; Edison, Eunice Sindhuvi; Poonkuzhali, Balasubramanian; Srivastava, Alok; Cha May 1, 2003 2785
Single-step assays to analyze CYP2D6 gene polymorphisms in Asians: allele frequencies and a novel *14B allele in mainland Chinese. Ji, Ling; Pan, Shixiu; Marti-Jaun, Jacqueline; Hanseler, Edgar; Rentsch, Katharina; Hersberger, Mart Jul 1, 2002 4808
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Krone, Nils; Braun, Andreas; Weinert, Stefanie; Peter, Michael; Roscher, Adelbert A.; Partsch, Carl- Jun 1, 2002 4987
Use of constant denaturant capillary electrophoresis of pooled blood samples to identify single-nucleotide polymorphisms in the genes (Scnn1a and Scnn1b) encoding the [alpha] and [beta] subunits of the epithelial sodium channel. Xue, Ming-Zhan; Bonny, Olivier; Morgenthaler, Stephan; Bochud, Murielle; Mooser, Vincent; Thilly, Wi May 1, 2002 5167
Diagnostic biochip array for fast and sensitive detection of K-ras mutations in stool. Prix, Lothar; Uciechowski, Peter; Bockmann, Beatrix; Giesing, Michael; Schuetz, Andreas J. Mar 1, 2002 4879
Trugene. Nov 1, 2001 91
Hepatotoxic Genetic Mutations. Kubetin, Sally Koch Sep 1, 2001 108
Stool DNA, Colon Ca. Kubetin, Sally Koch Jul 15, 2001 229
Computerized Image Analysis of p53 and Proliferating Cell Nuclear Antigen Expression in Benign, Hyperplastic, and Malignant Endometrium. Elhafey, Ahmed S.; Papadimitriou, John C.; El-Hakim, Mohamed S.; El-Said, Ahmed I.; Ghannam, Bahaa B Jul 1, 2001 4700
Capillary electrophoresis-based heteroduplex analysis with a universal heteroduplex generator for detection of point mutations associated with rifampin resistance in tuberculosis. Thomas, Gloria A.; Williams, Diana L.; Soper, Steven A. Jul 1, 2001 5642
Quantification of HER2/neu gene amplification by competitive PCR using fluorescent melting curve analysis. Lyon, Elaine; Millson, Alison; Lowery, Mary C.; Woods, Rachel; Wittwer, Carl T. May 1, 2001 5578
C677T and AI298C polymorphisms of the methylenetetrahydrofolate reductase gene: incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease. Hanson, Naomi Q.; Aras, Omer; Yang, Feng; Tsai, Michael Y. Apr 1, 2001 4323
Semiautomated DNA mutation analysis using a robotic workstation and molecular beacons. Smit, Maarten L.; Giesendorf, Belinda A.J.; Vet, Jacqueline A.M.; Trijbels, Frans J.M.; Blom, Henk J Apr 1, 2001 4436
High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC. Schaeffeler, Elke; Lang, Thomas; Zanger, Ulrich M.; Eichelbaum, Michel; Schwab, Matthias Mar 1, 2001 5176
Rapid single-tube genotyping of the factor V Leiden and prothrombin mutations by real-time PCR using dual-color detection. van den Bergh, Frank A.J.T.M.; van Oeveren-Dybicz, Arletta M.; Bon, Michelle A.M. Aug 1, 2000 2736
Flow cytometric assessment of LDL ligand function for detection of heterozygous familial defective apolipoprotein B-100. Raungaard, Bent; Heath, Finn; Hansen, Peter Steen; Brorholt-Petersen, Jens Uffe; Jensen, Henrik Kjae Feb 1, 2000 6896
Denaturing gradient gel electrophoresis-based analysis of loss of heterozygosity distinguishes nonobvious, deleterious BRCA1 variants from nonpathogenic polymorphisms. de la Hoya, Miguel; Diaz-Rubio, Eduardo; Caldes, Trinidad Nov 1, 1999 2371
Identification of germline mutations in hereditary nonpolyposis colorectal cancer using base excision sequence scanning analysis. Brieger, Angela; Trojan, Jorg; Raedle, Jochen; Roth, W. Kurt; Zeuzem, Stefan Sep 1, 1999 2259
Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis. Chen, Tian-Jian; Boles, Richard G.; Wong, Lee-Jun C. Aug 1, 1999 3541
Type 2 diabetes: an overview. Lebovitz, Harold E. Clinical report Aug 1, 1999 5026
Genotyping method for point mutation detection in the intestinal fatty acid binding protein, using fluorescent probes. Galluzzi, Jennifer R.; Ordovas, Jose M. Jul 1, 1999 1302
Reference values and biological variation for tumor marker CA 19-9 in serum for different Lewis and secretor genotypes and evaluation of secretor and Lewis genotyping in a Caucasian population. Vestergaard, Else Marie; Hein, Hans Ole; Meyer, Harald; Grunnet, Niels; Jorgensen, Jan; Wolf, Hans; Jan 1, 1999 5599
K-ras gene mutations in the diagnosis of fine-needle aspirates of pancreatic masses: prospective study using two techniques with different detection limits. Mora, Josefina; Puig, Pere; Boadas, Jaume; Urgell, Eulalia; Montserrat, Enric; Lerma, Enrique; Gonza Clinical report Nov 1, 1998 4280
Genetic testing for Gilbert's syndrome: how useful is it in determining the cause of jaundice? Rudenski, Aram S.; Halsall, David J. Report Aug 1, 1998 3186
Identification and haplotype analysis of apolipoprotein B-100 [Arg.sub.3500] [right arrow] Trp mutation in hyperlipidemic Chinese. Tai, Der-Yan; Pan, Ju-Pin; Lee-Chen, Guey-Jen Aug 1, 1998 4663
Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR. Poropat, Renee A.; Nicholson, Garth A. Apr 1, 1998 4639
Evolutionary dynamics of fitness recovery from the debilitating effects of Muller's ratchet. Elena, Santiago F.; Davila, Mercedes; Novella, Isabel S.; Holland, John J.; Domingo, Esteban; Moya, Apr 1, 1998 4565
Methods for detection of point mutations: performance and quality assessment. Nollau, Peter; Wagener, Christoph Jul 1, 1997 11871
Rapid and large-scale method to detect K-ras gene mutations in tumor samples. Lopez-Crapez, Evelyne; Chypre, Camille; Saavedra, Jacqueline; Marchand, Joseph; Grenier, Jean Jun 1, 1997 4360
Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Siegelman, Mark; Mohabeer, Ajay; Fahey, Thomas J., III; Tomlinson, Gail; Mayambala, Chris; Jafari, S Mar 1, 1997 3453
Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA I by PCR-mediated site-directed mutagenesis. Rohlfs, Elizabeth M.; Learning, William G.; Friedman, Kenneth J.; Couch, Fergus J.; Weber, Barbara L Jan 1, 1997 3649

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