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Browse Gene mutations topic

Identification and classification subtopic

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1-59 out of 59 article(s)
Title Author Type Date Words
Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening. Saboor, Muhammad; Mobarki, Abdullah Ahmed; Hamali, Hassan Abdu; Halawani, Amr Jamal; Abdullah, Saleh Report Jan 19, 2021 3005
GENETIC DUTIES. Roberts, Jessica L.; Foulkes, Alexandra L. Oct 1, 2020 28023
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
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
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
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
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
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
CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations. Karimi, Nasibeh; Alibakhshi, Reza; Almasi, Shekoufeh Report Jan 1, 2018 4337
Observed HIV drug resistance associated mutations amongst naive immunocompetent children in Yaounde, Cameroon. Ikomey, George Mondinde; Assoumou, Marie Claire Okomo; Gichana, Josiah Otwoma; Njenda, Duncan; Mikas Report Dec 1, 2017 3767
PTPN11, SOS1, and BRAF Gene Mutation Spectrum in RASopathies in Molecular Diagnosis. Asikovali, Semih; Aykut, Ayca; Durmaz, Asude; Onay, Huseyin; Hazan, Filiz; Ozen, Samim; Atik, Tahir; Author abstract Jun 1, 2017 383
Whole-Exome Sequencing-Based Mutational Profiling of Hepatitis B Virus-Related Early-Stage Hepatocellular Carcinoma. Zhan, Hao; Jiang, Jiahao; Sun, Qiman; Ke, Aiwu; Hu, Jinwu; Hu, Zhiqiang; Zhu, Kai; Luo, Chubin; Ren, Report Jan 1, 2017 4054
Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing. Lyu, Nan; Guan, Li-Li; Ma, Hong; Wang, Xi-Jin; Wu, Bao-Ming; Shang, Fan-Hong; Wang, Dan; Wen, Hong; Report Jun 1, 2016 4155
Detection of multidrug-resistant Mycobacterium tuberculosis strains isolated in brazil using a multimarker genetic assay for katG and rpoB genes. Oliveira, Luita Nice Cafe; Muniz-Sobrinho, Jairo da Silva; Viana-Magno, Luiz Alexandre; Melo, Sonia Report Mar 1, 2016 5163
Monitoring the emergence of HBV resistance mutations by HBV-RNA pyrosequencing. Bottecchia, Marcelle; Barcaiu, Halime Silva; Lewis-Ximenez, Lia Laura; da Silva e. Mouta, Sergio, Jr Report Mar 1, 2016 881
Early ALS treatment. Feb 1, 2016 436
Mutations in the S gene and in the overlapping reverse transcriptase region in chronic hepatitis B Chinese patients with coexistence of HBsAg and anti-HBs. Ding, Feng; Miao, Xi-Li; Li, Yan-Xia; Dai, Jin-Fen; Yu, Hong-Gang Report Jan 1, 2016 4627
Familial exudative vitreoretinopathy/Ailevi eksudatif vitreoretinopati. Sizmaz, Selcuk; Yonekawa, Yoshihiro; Trese, Michael T. Report Jul 1, 2015 2952
Drug resistance--associated mutations in Mycoplasma genitalium in female sex workers, Japan. Deguchi, Takashi; Yasuda, Mitsuru; Horie, Kengo; Seike, Kensaku; Kikuchi, Mina; Mizutani, Kohsuke; T Report Jun 1, 2015 2189
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
An investigation on mitochondrial DNA deletions and telomere shortening during multiple passages of adult stem cells. Fesahat, Farzaneh; Sheikhha, Mohammad Hasan; Rasti, Azam; Nodoshan, Fatemeh Sadeghian; Zare-Zardini, Report Jul 1, 2014 4008
Detection of hepatitis B virus A1762T/G1764A mutant by amplification refractory mutation system. Wang, Yong-Zhong; Zhua, Zhen; Zhang, Hong-Yu; Zhu, Min-Zhi; Xu, Xin; Chen, Chun-Hua; Liu, Long-Gen Report May 1, 2014 3544
Conservation/mutation in the splice sites of cytokine receptor genes of mouse and human. Calvello, Rosa; Cianciulli, Antonia; Panaro, Maria Antonietta Report Jan 1, 2014 7358
Multipyrene tandem probes for point mutations detection in DNA. Kholodar, Svetlana A.; Novopashina, Darya S.; Meschaninova, Mariya I.; Venyaminova, Alya G. Report Jan 1, 2014 7692
Genetic variability and selection criteria in rice mutant lines as revealed by quantitative traits. Oladosu, Yusuff; Rafii, M.Y.; Abdullah, Norhani; Malek, Mohammad Abdul; Rahim, H.A.; Hussin, Ghazali Report Jan 1, 2014 9578
Marker-assisted selection for recognizing wheat mutant genotypes carrying HMW glutenin alleles related to baking quality. Zamani, Mohammad Javad; Bihamta, Mohammad Reza; Khiabani, Behnam Naserian; Tahernezhad, Zahra; Halla Report Jan 1, 2014 3742
Identification of p53 and its isoforms in human breast carcinoma cells. Milicevic, Zorka; Bajic, Vladan; Civkovic, Lada; Kasapovic, Jelena; Andjelkovic, Uros; Spremo-Potpar Report Jan 1, 2014 7992
100 Gy [sup.60]Co [gamma]-ray induced novel mutations in tetraploid wheat. Yang, Chuntao; Zhu, Jianshu; Jiang, Yun; Wang, Xiaolu; Gu, Mengxue; Wang, Yi; Kang, Houyang; Fan, Xi Report Jan 1, 2014 4337
Morphological characterization and assessment of genetic variability, character association, and divergence in soybean mutants. Malek, M.A.; Rafii, Mohd Y.; Afroz, Most. Shahida Sharmin; Nath, Ujjal Kumar; Mondal, M. Monjurul Al Report Jan 1, 2014 8999
Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer. Shinmura, Kazuya; Goto, Masanori; Tao, Hong; Kato, Hisami; Suzuki, Rie; Nakamura, Satoki; Matsuda, T Report Jan 1, 2014 7561
Study of a natural mutant SHV-Type [beta]-lactamase, SHV-104, from Klebsiella pneumoniae. Achour, Nahed Ben; Belhadj, Omrane; Galleni, Moreno; Moussa, Mohamed Ben; Mercuri, Paola Sandra Report Jan 1, 2014 3927
Spontaneous generation of infectious prion disease in transgenic mice. Torres, Juan-Maria; Castilla, Joaquin; Pintado, Belen; Gutierrez-Adan, Alfonso; Andreoletti, Olivier Report Dec 1, 2013 5869
Cancer mutations found outside genes: genetic variants in noncoding DNA associated with disease. Saey, Tina Hesman Nov 2, 2013 587
Primary multidrug-resistant mycobacterium tuberculosis in 2 regions, eastern Siberia, Russian Federation. Zhdanova, Svetlana; Heysell, Scott K.; Ogarkov, Oleg; Boyarinova, Galina; Alexeeva, Galina; Pholwat, Report Oct 1, 2013 2821
Molecular profiling in non-small cell lung cancer: a step toward personalized medicine. Raparia, Kirtee; Villa, Celina; DeCamp, Malcolm M.; Patel, Jyoti D.; Mehta, Minesh P. Report Apr 1, 2013 11577
Dysplastic lesions in inflammatory bowel disease: molecular pathogenesis to morphology. Matkowskyj, Kristina A.; Chen, Zongming E.; Rao, M. Sambasiva; Yang, Guang-Yu Report Mar 1, 2013 10957
Pheochromocytoma. Mar 1, 2013 5043
A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly. Hosseini, Miss Masoumeh; Tonekaboni, Seyed Hassan; Papari, Elaheh; Bahman, Idea; Behjati, Farkhondeh Clinical report Nov 30, 2012 1707
Beyond morphology: unraveling the genetic basis of childhood nephrotic syndrome in Pakistan. Mubarak, Muhammed; Kazi, Javed I. Report Nov 30, 2012 1346
Goldilocks variant \GOHLD-ee-loks VAIR-ee-uhnt\ n. Saey, Tina Hesman Brief article Oct 6, 2012 140
Loeys-Dietz syndrome: a possible solution for Akhenaten's and his family's mystery syndrome. Eshraghian, Ahad; Loeys, Bart Report Aug 1, 2012 2675
Comparison of classical and probable heterozygous familial hypercholesterolemia cases with controls. Khan, Samia Perwaiz; Ghani, Rubina; Ahmed, Khwaja Zafar; Yaqub, Zia Report Jul 1, 2012 2474
Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva. Dandara, Collet; Scott, Chris; Urban, Mike; Fieggen, Karen; Arendse, Regan; Beighton, Peter Report Jul 1, 2012 1681
Why brain cancer resists chemo. Saey, Tina Hesman Brief article May 5, 2012 117
Report of Haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran. Mahdavi, Mohammad Reza; Bayat, Nooshin; Hadavi, Valeh; Karami, Hosein; Roshan, Payam; Najmabadi, Hos Report Apr 30, 2012 1610
Missense mutations in the pancreatic beta-cell ATP-sensitive potassium channel Kir6.2: A case study of Pakistani patient of neonatal diabetes. Clinical report Mar 31, 2012 1897
Epidemiologic and genetic characteristics of alopecia areata (part 2). Alzolibani, Abdullateef; Zari, Shadi; Ahmed, Ahmed Report Jan 1, 2012 5085
Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype. Report Nov 30, 2011 2539
Myeloproliferative neoplasms: the role of molecular markers. Collins, Leilani Disease/Disorder overview Jun 22, 2011 2165
Macrolide resistance--associated 23S rRNA mutation in mycoplasma genitalium, Japan. Shimada, Yasushi; Deguchi, Takashi; Nakane, Keita; Yasuda, Mitsuru; Yokoi, Shigeaki; Ito, Shin-ichi; Letter to the editor Jun 1, 2011 1295
Chasing the ubiquitous RET proto-oncogene in South African MEN2 families--implications for the surgeon. Moore, S.W.; Zaahl, M.G. Report Nov 1, 2010 3995
Some autism cases linked to rare mutations: extra or missing chunks of DNA offer therapy targets. Saey, Tina Hesman Jul 3, 2010 838
Repairing a cell's faulty batteries: new method could prevent certain inherited disorders. Saey, Tina Hesman May 8, 2010 305
Family genomics makes its debut: full DNA studies of parents and children pinpoint mutations. Sanders, Laura Apr 10, 2010 460
Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining. Crosby, Michelle B.; Hubbard, G. Baker; Gallie, Brenda L.; Grossniklaus, Hans E. Disease/Disorder overview Aug 1, 2009 1813
Glioblastoma is two separate cancers. Brief article Nov 1, 2008 141
Use of RAPD Assay for the detection of mutation changes in aonla (Emblica officinalis Gaertn.). Selvi, Senthamizh B.; Ponnuswami, V.; Kavitha, P.S. Report Sep 1, 2008 2090
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. Gillies, R.L.; Bjorksten, A.R.; Davis, M.; Du Sart, D. May 1, 2008 7376
Polycystic Ovary Syndrome Tied to Follistatin Gene. ZOLER, MITCHEL L. Sep 1, 1999 591

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