| 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 |
