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... to TH1-p.R202H). Whole brain extracts of  homozygous 
Journal of Inherited Metabolic Disease
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
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 ...
... carried the silent mutation in the  homozygous 
Common silent mutations in all types of hereditary complement C1q deficiencies
Petry, Franz; Loos, Michael
(18%) or heterozygous (36%) state. ...
... Cb Cln3 wild-type, heterozygous, and  homozygous 
BMC Neuroscience
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Fossale, Elisa; Wolf, Pavlina; Espinola, Janice; Lubicz-Nawrocka, Tanya; Teed, Allison; Gao, Hanlin; Rigamonti, Dorotea; Cattaneo, Elena; MacDonald, Marcy; Cotman, Susan
neuronal precursor cell lines, which can ...
... (FVL) and prothrombin mutation (PTM).  Homozygous 
Journal of Thrombosis and Thrombolysis
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 ...
... and osteopenia were revealed in the  homozygous 
Journal of Biomedical Science
Standardized, systemic phenotypic analysis of Slc12a1 I299F mutant mice
Kemter, Elisabeth; Rathkolb, Birgit; Becker, Lore; Bolle, Ines; Busch, Dirk H; Dalke, Claudia; Elvert, Ralf; Favor, Jack; Graw, Jochen; Hans, Wolfgang; Ivandic, Boris; Kalaydjiev, Svetoslav; Klopstock, Thomas; Rácz, Ildikó; Rozman, Jan; Schrewe, Anja; Schulz, Holger; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valérie; de Angelis, Martin Hrabé; Wolf, Eckhard; Aigner, Bernhard
mutant mice which were also described in ...
... major microfibrillar proteins. The PDLs of  homozygous 
Cell and Tissue Research
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 ...
... kindred ascertained worldwide with known  homozygous 
PLoS Genetics
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
Hildebrandt, Friedhelm; Heeringa, Saskia F.; Rüschendorf, Franz; Attanasio, Massimo; Nürnberg, Gudrun; Becker, Christian; Seelow, Dominik; Huebner, Norbert; Chernin, Gil; Vlangos, Christopher N.; Zhou, Weibin; O'Toole, John F.; Hoskins, Bethan E.; Wolf, Matthias T. F.; Hinkes, Bernward G.; Chaib, Hassan; Ashraf, Shazia; Schoeb, Dominik S.; Ovunc, Bugsu; Allen, Susan J.; Vega-Warner, Virginia; Wise, Eric; Harville, Heather M.; Lyons, Robert H.; Washburn, Joseph; MacDonald, James; Nürnberg, Peter; Otto, Edgar A.
mutations in 13 different recessive ...
... the dominant gene “D” at the D locus: the  homozygous 
Tropical Animal Health and Production
The genetics of colour in fat-tailed sheep: a review
Lundie, Roger S.
recessive genotype “dd” giving the brown ...
... used to lower lipid levels in adults with  homozygous 
American Journal of Cardiovascular Drugs
Lomitapide: A Review of its Use in Adults with Homozygous Familial Hypercholesterolemia
Perry, Caroline M.
familial hypercholesterolemia, a rare, ...
... of the mutated GmKASIIIA gene. Lines  homozygous 
Theoretical and Applied Genetics
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 ...
... events (indels)(1–571 bp), 559,473  homozygous 
PLoS Biology
The Diploid Genome Sequence of an Individual Human
Levy, Samuel; Sutton, Granger; Ng, Pauline C; Feuk, Lars; Halpern, Aaron L; Walenz, Brian P; Axelrod, Nelson; Huang, Jiaqi; Kirkness, Ewen F; Denisov, Gennady; Lin, Yuan; MacDonald, Jeffrey R; Pang, Andy Wing Chun; Shago, Mary; Stockwell, Timothy B; Tsiamouri, Alexia; Bafna, Vineet; Bansal, Vikas; Kravitz, Saul A; Busam, Dana A; Beeson, Karen Y; McIntosh, Tina C; Remington, Karin A; Abril, Josep F; Gill, John; Borman, Jon; Rogers, Yu-Hui; Frazier, Marvin E; Scherer, Stephen W; Strausberg, Robert L; Venter, J. Craig
indels (1–82,711 bp), 90 inversions, as ...
... test, the exploratory activity of the  homozygous 
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 ...
... that leads to loss of dysbindin-1 in  homozygous 
Handbook of Neurochemistry and Molecular Neurobiology
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 ...
... McDevitt 1989; Brodde 1991) in volunteers  homozygous 
Naunyn-Schmiedeberg's Archives of Pharmacology
β-Adrenoceptor polymorphisms
Leineweber, K.; Büscher, R.; Bruck, H.; Brodde, O.-E.
for the Gly389 or Arg389 β1-adrenoceptors ...
... of contiguous homozygosity (runs of  homozygous 
Genome Biology
hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets
Johnson, Todd A; Niimura, Yoshihito; Tanaka, Hiroshi; Nakamura, Yusuke; Tsunoda, Tatsuhiko
loci) in human genotyping datasets is ...
... approach to identify a subset of  homozygous 
BioData Mining
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation
Preeprem, Thanawadee; Gibson, Greg
non-synonymous single nucleotide ...
... Management of  homozygous 
JIMD Reports - Case and Research Reports, 2011/2
Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia
Gautschi, Matthias; Pavlovic, Mladen; Nuoffer, Jean-Marc
familial hypercholesterolaemia is ...
... transgenes in barley, we crossed a  homozygous 
Plant Cell Reports
Stability and inheritance of endosperm-specific expression of two transgenes in progeny from crossing independently transformed barley plants
Choi, Hae-Woon; Yu, Xiao-Hong; Lemaux, Peggy G.; Cho, Myeong-Je
T8 plant, having uidA (or gus) driven by ...
... generated from mouse tissues bearing the  homozygous 
Orphanet Journal of Rare Diseases
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
Mahmood, Saqib; Ahmad, Wasim; Hassan, Muhammad J
gene trap mutation display the cellular ...
... Wild-type mice and mice heterozygous or  homozygous 
Critical Care
Impact of the factor V Leiden mutation on the outcome of pneumococcal pneumonia: a controlled laboratory study
Schouten, Marcel; van't Veer, Cornelis; Roelofs, Joris JTH; Levi, Marcel; van der Poll, Tom
for the FVL mutation were infected ...
... displayed male sterile phenotype in the  homozygous 
Plant Cell Reports
A novel T-DNA integration in rice involving two interchromosomal translocations
Majhi, Bharat Bhusan; Shah, Jasmine M.; Veluthambi, Karuppannan
condition. ...
... novel methods to identify and compare  homozygous 
Cancer Susceptibility
Computational Identification of Cancer Susceptibility Loci
Laakso, Marko; Karinen, Sirkku; Lehtonen, Rainer; Hautaniemi, Sampsa
and compound heterozygous regions between ...
... 202T>C (2); Heterozygous 59T>G/202T>C (3);  Homozygous 
Journal of Human Genetics
Lewis enzyme (α1–3/4 fucosyltransferase) polymorphisms do not explain the Lewis phenotype in the gastric mucosa of a Portuguese population
Serpa, Jacinta; Almeida, Raquel; Oliveira, Carla; Silva, Filipe Santos; Silva, Elisabete; Reis, Celso; Le Pendu, Jacques; Oliveira, Graça; Ribeiro, Luís Manuel Cunha; David, Leonor
59T>G (4); ...
... and/or severe hepatic disease who are  homozygous 
JIMD Reports - Case and Research Reports, 2012/1
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis
Usta, Julnar; Daya, Hussein Abu; Halawi, Houssam; Al-Shareef, Ibraheem; El-Rifai, Omar; Malli, Ahmad H.; Sharara, Ala I.; Habib, Robert H.; Barada, Kassem
for W939C missense mutation on exon 12 of ...