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... to TH1-p.R202H). Whole brain extracts of  homozygous 
ICIEM Abstracts
ICIEM Abstracts
Th-ki/ki mice showed in the brain normal ...
... study, the methods to identify non-  homozygous 
Assessment of wheat variety stability using SSR markers
Assessment of wheat variety stability using SSR markers
Wang, Li Xin; Li, Hong Bo; Gu, Tie Cheng; Liu, Li Hua; Pang, Bin Shuang; Qiu, Jun; Zhao, Chang Ping
SSR loci and calculate the ...
... from TLR2 and TLR4. These individuals are  homozygous 
ESID 2014 ORAL PRESENTATIONS
ESID 2014 ORAL PRESENTATIONS
for a loss-of-function TIRAP allele. ...
... al. 2014). Fig. 1 The clamp 2 mutation is  homozygous 
The essential Drosophila CLAMP protein differentially regulates non-coding roX RNAs in male and females
The essential Drosophila CLAMP protein differentially regulates non-coding roX RNAs in male and females
Urban, Jennifer A.; Doherty, Caroline A.; Jordan, William T., III; Bliss, Jacob E.; Feng, Jessica; Soruco, Marcela M.; Rieder, Leila E.; Tsiarli, Maria A.; Larschan, Erica N.
lethal and the clamp 1 allele is ...
... carried the silent mutation in the  homozygous 
Common silent mutations in all types of hereditary complement C1q deficiencies
Common silent mutations in all types of hereditary complement C1q deficiencies
Petry, Franz; Loos, Michael
(18%) or heterozygous (36%) state. ...
... (FVL) and prothrombin mutation (PTM).  Homozygous 
Homozygous factor V Leiden and double heterozygosity for factor V Leiden and prothrombin mutation
Homozygous factor V Leiden and double heterozygosity for factor V Leiden and prothrombin mutation
Saemundsson, Ymir; Sveinsdottir, Signý Vala; Svantesson, Henrik; Svensson, Peter J.
FVL and PTM have long been feared ...
... McDevitt 1989; Brodde 1991) in volunteers  homozygous 
β-Adrenoceptor polymorphisms
β-Adrenoceptor polymorphisms
Leineweber, K.; Büscher, R.; Bruck, H.; Brodde, O.-E.
for the Gly389 or Arg389 β1-adrenoceptors ...
... that leads to loss of dysbindin-1 in  homozygous 
Dysbindin-1 and Its Protein Family
Dysbindin-1 and Its Protein Family
Talbot, K.; Ong, W.- Y.; Blake, D. J.; Tang, J.; Louneva, N.; Carlson, G. C.; Arnold, S. E.
mice, which also shows a loss or reduction ...
... major microfibrillar proteins. The PDLs of  homozygous 
Dilated capillaries, disorganized collagen fibers and differential gene expression in periodontal ligaments of hypomorphic fibrillin-1 mice
Dilated capillaries, disorganized collagen fibers and differential gene expression in periodontal ligaments of hypomorphic fibrillin-1 mice
Ganburged, Ganjargal; Suda, Naoto; Saito, Masahiro; Yamazaki, Yosuke; Isokawa, Keitaro; Moriyama, Keiji
mgR mice showed one-quarter of the elastic ...
... phenotypes and can be maintained via  homozygous 
Mouse Models of Receptor Tyrosine Kinases
Mouse Models of Receptor Tyrosine Kinases
Holcmann, Martin; Amberg, Nicole; Drobits, Barbara; Glitzner, Elisabeth; Komposch, Karin; Robson, Jonathan; Savarese, Fabio; Srivatsa, Sriram; Stulnig, Gabriel; Sibilia, Maria
breeding. ...
... the dominant gene “D” at the D locus: the  homozygous 
The genetics of colour in fat-tailed sheep: a review
The genetics of colour in fat-tailed sheep: a review
Lundie, Roger S.
recessive genotype “dd” giving the brown ...
... of the mutated GmKASIIIA gene. Lines  homozygous 
Mapping the low palmitate fap1 mutation and validation of its effects in soybean oil and agronomic traits in three soybean populations
Mapping the low palmitate fap1 mutation and validation of its effects in soybean oil and agronomic traits in three soybean populations
Cardinal, Andrea J.; Whetten, Rebecca; Wang, Sanbao; Auclair, Jérôme; Hyten, David; Cregan, Perry; Bachlava, Eleni; Gillman, Jason; Ramirez, Martha; Dewey, Ralph; Upchurch, Greg; Miranda, Lilian; Burton, Joseph W.
for the GmKASIIIA mutation (fap1) had a ...
... vs. CC), recessive model (CC + CT vs. TT),  homozygous 
Association between the MTHFR C677T polymorphism and risk of cancer: evidence from 446 case–control studies
Association between the MTHFR C677T polymorphism and risk of cancer: evidence from 446 case–control studies
Xie, Shu-Zhe; Liu, Zhi-Zhong; Yu, Jun-hua; Liu, Li; Wang, Wei; Xie, Dao-Lin; Qin, Jiang-Bo
model (TT vs. ...
... and enamelin in the ameloblasts in the  homozygous 
Rat wct mutation prevents differentiation of maturation-stage ameloblasts resulting in hypo-mineralization in incisor teeth
Rat wct mutation prevents differentiation of maturation-stage ameloblasts resulting in hypo-mineralization in incisor teeth
Osawa, Masaru; Kenmotsu, Shin; Masuyama, Taku; Taniguchi, Kazuyuki; Uchida, Takashi; Saito, Chikara; Ohshima, Hayato
teeth was the same as that in the ...
... CI = 1.03–1.12, P h < 0.001, I 2 = 54.2 %;  homozygous 
Association between the CYP1B1 polymorphisms and risk of cancer: a meta-analysis
Association between the CYP1B1 polymorphisms and risk of cancer: a meta-analysis
Liu, Jie-Ying; Yang, Yu; Liu, Zhi-Zhong; Xie, Jian-Jun; Du, Ya-Ping; Wang, Wei
model: OR = 1.09, 95 % CI = 1.02–1.17, P ...
... test, the exploratory activity of the  homozygous 
Targeted mutation of CCK2 receptor gene modifies the behavioural effects of diazepam in female mice
Targeted mutation of CCK2 receptor gene modifies the behavioural effects of diazepam in female mice
Raud, Sirli; Rünkorg, Kertu; Veraksitš, Alar; Reimets, Ain; Nelovkov, Aleksei; Abramov, Urho; Matsui, Toshimitsu; Bourin, Michel; Volke, Vallo; Kõks, Sulev; Vasar, Eero
(−/−) mice was significantly higher ...
... extremely unfit to reproduce. In addition,  homozygous 
Poor competitive fitness of transgenically mitigated tobacco in competition with the wild type in a replacement series
Poor competitive fitness of transgenically mitigated tobacco in competition with the wild type in a replacement series
Al-Ahmad, Hani; Galili, Shmuel; Gressel, Jonathan
TM progeny had an even lower competitive ...
... Bonferroni correction (RANKL, rs4531631:  homozygous 
Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
Wang, Fengyu; Wang, Haili; Wang, Lina; Zhou, Shiyuan; Chang, Mingxiu; Zhou, Jiping; Dou, Yongheng; Wang, Yanli; Shi, Xiangdong
, AA vs. ...
... and impaired panicle development in the  homozygous 
Agrobacterium T-DNA insertion in the rice DWARF SHOOT AND DEFECTIVE PANICLE1 (DSDP1) gene causes a severe dwarf phenotype, reduces plant vigour, and affects seed germination
Agrobacterium T-DNA insertion in the rice DWARF SHOOT AND DEFECTIVE PANICLE1 (DSDP1) gene causes a severe dwarf phenotype, reduces plant vigour, and affects seed germination
Basu, Debjani; Majhi, Bharat Bhusan; Sripriya, Rajasekaran; Veluthambi, Karuppannan
state. ...
... microarrays. We identified six families  homozygous 
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
H’mida-Ben Brahim, D.; M’zahem, A.; Assoum, M.; Bouhlal, Y.; Fattori, F.; Anheim, M.; Ali-Pacha, L.; Ferrat, F.; Chaouch, M.; Lagier-Tourenne, C.; Drouot, N.; Thibaut, C.; Benhassine, T.; Sifi, Y.; Stoppa-Lyonnet, D.; N’Guyen, K.; Poujet, J.; Hamri, A.; Hentati, F.; Amouri, R.; Santorelli, F. M.; Tazir, M.; Koenig, M.
for regions containing the autosomal ...
... In case an affected individual carries a  homozygous 
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
Littink, Karin W.; Hollander, Anneke I.; Cremers, Frans P. M.; Collin, Rob W. J.
mutation, the same mutation is inherited ...
... heterozygous (*28/*1, *6/*1) (41.1 %), and  homozygous 
UDP-glucuronosyltransferase 1A1*6 and *28 polymorphisms as indicators of initial dose level of irinotecan to reduce risk of neutropenia in patients receiving FOLFIRI for colorectal cancer
UDP-glucuronosyltransferase 1A1*6 and *28 polymorphisms as indicators of initial dose level of irinotecan to reduce risk of neutropenia in patients receiving FOLFIRI for colorectal cancer
Miyata, Yoshinori; Touyama, Tetsuo; Kusumi, Takaya; Morita, Yoshitaka; Mizunuma, Nobuyuki; Taniguchi, Fumihiro; Manabe, Mitsuaki
(*28/*28, *6/*6, *28/*6) (8.which are ...
... index (TSI) between the HFE C282Y variant  homozygous 
Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism
Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism
Gómez-Llorente, Carolina; Miranda-León, M. Teresa; Blanco, Sonia; Gandia-Pla, Sandra; Gómez-Capilla, Jose Antonio; Fárez-Vidal, M. Esther
and control (ten healthy volunteers) ...
... its unique cerebellar phenotype.  Homozygous 
The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype
The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype
Shih, Evelyn K.; Sekerková, Gabriella; Ohtsuki, Gen; Aldinger, Kimberly A.; Chizhikov, Victor V.; Hansel, Christian; Mugnaini, Enrico; Millen, Kathleen J.
tippy mutant mice are small, ataxic, and ...
... capture in a familial case identified a  homozygous 
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Alazami, Anas M.; Al-Qattan, Sarah M.; Faqeih, Eissa; Alhashem, Amal; Alshammari, Muneera; Alzahrani, Fatema; Al-Dosari, Mohammed S.; Patel, Nisha; Alsagheir, Afaf; Binabbas, Bassam; Alzaidan, Hamad; Alsiddiky, Abdulmonem; Alharbi, Nasser; Alfadhel, Majid; Kentab, Amal; Daza, Riza M.; Kircher, Martin; Shendure, Jay; Hashem, Mais; Alshahrani, Saif; Rahbeeni, Zuhair; Khalifa, Ola; Shaheen, Ranad; Alkuraya, Fowzan S.
truncating variant in a novel and ...