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... were PAI-1 4G/5G (56% heterozygous, 39%  homozygous 
Association of deep venous thrombosis with prothrombotic gene polymorphism identified in lung cancer cases
Association of deep venous thrombosis with prothrombotic gene polymorphism identified in lung cancer cases
Arslan, Sulhattin; Manduz, Şinasi; Epöztürk, Kürşat; Karahan, Oğuz; Akkurt, İbrahim
) and ACE gene mutations (58% ...
... and available family members. Three  homozygous 
Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families
Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families
Sobhani, Maryam; Tabatabaiefar, Mohammad Amin; Rajab, Asadollah; Kajbafzadeh, Abdol-Mohammad; Noori-Daloii, Mohammad Reza
mutations were identified including c.1885 ...
... (3) supplying the specific number of  homozygous 
Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis
Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis
Xu, Wenhuan; Zhou, Yunhai; Hang, Xiaosheng; Shen, Di
and heterozygous carriers in cases and ...
... T1), located in 22q11.2 chromosome. The  homozygous 
Risk modulation of GSTM1–GSTT1 interactions to head and neck cancer in tobacco users
Risk modulation of GSTM1–GSTT1 interactions to head and neck cancer in tobacco users
Senthilkumar, K. P.; Thirumurugan, R.
(+/+) wild genotypes (Wt) in GST M1 and T1 ...
... controls. Comparing thalassemic patients  homozygous 
Plasma lipids and lipoproteins in children and young adults with major β-thalassemia from western Iran: influence of genotype
Plasma lipids and lipoproteins in children and young adults with major β-thalassemia from western Iran: influence of genotype
Madani, Hamid; Rahimi, Zohreh; Manavi-Shad, Mohammad; Mozafari, Hadi; Akramipour, Reza; Vaisi-Raygani, Asad; Rezaei, Mansour; Malek-Khosravi, Shohreh; Shakiba, Ebrahim; Parsian, Abbas
for a β0 type of mutation with those ...
... 95% CI: 0.93–2.42, random effects; for  homozygous 
Cytochrome P450 1A1 (CYP1A1) gene polymorphisms and cervical cancer risk: a meta-analysis
Cytochrome P450 1A1 (CYP1A1) gene polymorphisms and cervical cancer risk: a meta-analysis
Sergentanis, Theodoros N.; Economopoulos, Konstantinos P.; Choussein, Souzana; Vlahos, Nikos F.
CC vs. ...
... 95 % CI: 0.767–0.876, P = 1.0 × 10−10),  homozygous 
Apo A5 −1131T/C, FgB −455G/A, −148C/T, and CETP TaqIB gene polymorphisms and coronary artery disease in the Chinese population: a meta-analysis of 15,055 subjects
Apo A5 −1131T/C, FgB −455G/A, −148C/T, and CETP TaqIB gene polymorphisms and coronary artery disease in the Chinese population: a meta-analysis of 15,055 subjects
Li, Yan-yan; Wu, Xiao-yan; Xu, Jian; Qian, Yun; Zhou, Chuan-wei; Wang, Bei
(OR: 2.36, 95 % CI: 1.55–3.58, P < 0.0001) ...
... elevated ovarian cancer risk concerning  homozygous 
Cytochrome P450 1A1 (CYP1A1) gene polymorphisms and ovarian cancer risk: a meta-analysis
Cytochrome P450 1A1 (CYP1A1) gene polymorphisms and ovarian cancer risk: a meta-analysis
Sergentanis, Theodoros N.; Economopoulos, Konstantinos P.; Choussein, Souzana; Vlahos, Nikos F.
carriers (pooled OR = 2.65, 95 % CI: ...
... Val103Ile mutation (3.12%), and one was  homozygous 
Polymorphism Val103Ile of the melanocortin-4 receptor gene in the Serbian population
Polymorphism Val103Ile of the melanocortin-4 receptor gene in the Serbian population
Stokić, E.; Djan, M.; Vapa, Lj; Djan, I.; Plećaš, A.; Srdić, B.
for 103Ile allele (1.04%). ...
... (58.1%) were females. The mutations were  homozygous 
Common Familial Mediterranean Fever gene mutations in a Turkish cohort
Common Familial Mediterranean Fever gene mutations in a Turkish cohort
Dundar, Munis; Emirogullari, Elif Funda; Kiraz, Aslihan; Taheri, Serpil; Baskol, Mevlut
in 176 (16.85%) patients, compound ...
... common, with 10% of the population  homozygous 
Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?
Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?
Santos, Maria E. R. C.; C. L. e Silva, Francisco; Gomes, Karina B.; Fernandes, Ana Paula M.; Freitas, Fernanda R.; Faria, Mayara C.; Mota, Ana Paula L.; Carvalho, Maria G.
for the mutation (TT), 47% ...
... amplified product was consistent with the  homozygous 
Genetic polymorphisms of GSTO2, GSTM1, and GSTT1 and risk of gastric cancer
Genetic polymorphisms of GSTO2, GSTM1, and GSTT1 and risk of gastric cancer
Masoudi, Mohammad; Saadat, Iraj; Omidvari, Shahpour; Saadat, Mostafa
null genotype of GSTM1 and GSTT1. ...
... (PCR–RFLP). The study showed that the  homozygous 
Association of FcγRIIB and FcγRIIA R131H gene polymorphisms with renal involvement in Egyptian systemic lupus erythematosus patients
Association of FcγRIIB and FcγRIIA R131H gene polymorphisms with renal involvement in Egyptian systemic lupus erythematosus patients
Zidan, Haidy E.; Sabbah, Norhan A.; Hagrass, Hoda A.; Tantawy, Enas A.; El-Shahawy, Eman E.; Nageeb, Ghada S.; Abdul-Sattar, Amal Bakry
genotype (Thr/Thr) of FcγRIIB ...
... and two female patients (16.7 %) were  homozygous 
Impact of CYP3A4 and MDR1 gene (G2677T) polymorphisms on dose requirement of the cyclosporine in renal transplant Egyptian recipients
Impact of CYP3A4 and MDR1 gene (G2677T) polymorphisms on dose requirement of the cyclosporine in renal transplant Egyptian recipients
Sharaki, Ola; Zeid, Montasser; Moez, Pacint; Zakaria, Nermine Hossam; Nassar, Eman
for the wild allele (CC), 16 male patients ...
... as CAG promoter and Egfp coding region in  homozygous 
Unstable expression of transgene is associated with the methylation of CAG promoter in the offspring from the same litter of homozygous transgenic mice
Unstable expression of transgene is associated with the methylation of CAG promoter in the offspring from the same litter of homozygous transgenic mice
Zhou, Yang; Zhang, Teng; Zhang, Qin-Kai; Jiang, Ying; Xu, Deng-Gao; Zhang, Min; Shen, Wei; Pan, Qing-Jie
transgenic animals is still unknown. ...
... patterning, but survive to adulthood.  Homozygous 
Molecular characterization of Pegarn: a Drosophila homolog of UNC-51 kinase
Molecular characterization of Pegarn: a Drosophila homolog of UNC-51 kinase
Ahantarig, A.; Chadwell, L. V.; Terrazas, I. B.; Garcia, C. T.; Nazarian, J. J.; Lee, H. K.; Lundell, M. J.; Cassill, J. A.
mutants have an even more deformed pattern ...
... compound heterozygous in 188 (14.5 %),  homozygous 
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey
Oztuzcu, Serdar; Ulaşlı, Mustafa; Ergun, Sercan; Iğci, Yusuf Ziya; Iğci, Mehri; Bayraktar, Recep; Nacarkahya, Gülper; Tamer, Ali; Çevik, Muammer Özgür; Çakmak, Ecir Ali; Arslan, Ahmet
in 281 (21.8 %) and mutations had complex ...
... risk (Table 2) The genotype frequencies of  homozygous 
Role of DNA repair and cell cycle control genes in ovarian cancer susceptibility
Role of DNA repair and cell cycle control genes in ovarian cancer susceptibility
Mohamed, Faten Zahran; Hussien, Yousry Mostafa; AlBakry, Mohamad Mohamad; Mohamed, Randa H.; Said, Noha Mohamed
(GG), heterozygous (GA), and ...
... Proline at codon 237, was observed in the  homozygous 
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria
Moghbeli, Meysam; Maleknejad, Mahmood; Arabi, Azadeh; Abbaszadegan, Mohammad Reza
state in these 4 patients and heterozygous ...
... all the affected individuals were  homozygous 
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family
Hussain, Rashida; Daud, Shakeela; Kakar, Naseebullah; Ahmad, Adeel; Baloch, Abdul Hameed; Tareen, Abdul Malik; Kakar, Muhammad Azam; Ahmad, Jamil
for short tandem repeat markers while the ...
... patients most prominently showed excess of  homozygous 
p53 Codon 72 arginine/proline polymorphism and cancer in Sudan
p53 Codon 72 arginine/proline polymorphism and cancer in Sudan
Eltahir, Huda A.; Adam, Ameera A. M.; Yahia, Zeinab A.; Ali, Noon F.; Mursi, Dalia M.; Higazi, Ashraaf M.; Eid, Nahid A.; Elhassan, Ahmed M.; Mohammed, Hiba S.; Ibrahim, Muntaser E.
arg genotype as compared to controls with ...
... 3U of the restriction enzyme NcoI. The  homozygous 
Polymorphisms in RAD51, XRCC2 and XRCC3 genes of the homologous recombination repair in colorectal cancer—a case control study
Polymorphisms in RAD51, XRCC2 and XRCC3 genes of the homologous recombination repair in colorectal cancer—a case control study
Krupa, Renata; Sliwinski, Tomasz; Wisniewska-Jarosinska, Maria; Chojnacki, Jan; Wasylecka, Maja; Dziki, Lukasz; Morawiec, Jan; Blasiak, Janusz
Thr/Thr genotype produced 39 and 97 bp ...
... (54.5 vs. 43.8 %, p ≤ 0.01) and  homozygous 
Admixture of beneficial and unfavourable variants of GLCCI1 and FCER2 in Roma samples can implicate different clinical response to corticosteroids
Admixture of beneficial and unfavourable variants of GLCCI1 and FCER2 in Roma samples can implicate different clinical response to corticosteroids
Szalai, Renata; Matyas, Petra; Varszegi, Dalma; Melegh, Marton; Magyari, Lili; Jaromi, Luca; Sumegi, Katalin; Duga, Balazs; Kovesdi, Erzsebet; Hadzsiev, Kinga; Melegh, Bela
genotype (31.6 vs. 21.3 %, p ≤ 0.01) of ...
... sequencing. We found that the proband is  homozygous 
A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation
A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation
Sfar, Sana; Bzéouich, Ahlem Afaya; Kerkeni, Emna; Bouaziz, Sofiane; Najjar, Mohamed Fadhel; Chouchane, Lotfi; Monastiri, Kamel
for a novel 15 bp deletion in the exon 7 ...
... However, there is strong evidence that a  homozygous 
The Xmn1 polymorphic site 5′ to the Gγ gene and its correlation to the Gγ:Aγ ratio, age at first blood transfusion and clinical features in β-Thalassemia patients from Western Iran
The Xmn1 polymorphic site 5′ to the Gγ gene and its correlation to the Gγ:Aγ ratio, age at first blood transfusion and clinical features in β-Thalassemia patients from Western Iran
Nemati, Hooshang; Rahimi, Zohreh; Bahrami, Gholamreza
state for Xmn1 polymorphic site, which is ...

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