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... 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 ...
... 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 ...
... heterogeneity of ASD. Our strategy,  homozygous 
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Casey, Jillian P.; Magalhaes, Tiago; Conroy, Judith M.; Regan, Regina; Shah, Naisha; Anney, Richard; Shields, Denis C.; Abrahams, Brett S.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J.; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Cali, Phil; Correia, Catarina; Corsello, Christina; Coutanche, Marc; Dawson, Geraldine; Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Foley, Suzanne; Fombonne, Eric; Freitag, Christine M.; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Green, Jonathan; Guter, Stephen J.; Hakonarson, Hakon; Holt, Richard; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M.; Kolevzon, Alexander; Lamb, Janine A.; Leboyer, Marion; Couteur, Ann; Leventhal, Bennett L.; Lord, Catherine; Lund, Sabata C.; Maestrini, Elena; Mantoulan, Carine; Marshall, Christian R.; McConachie, Helen; McDougle, Christopher J.; McGrath, Jane; McMahon, William M.; Merikangas, Alison; Miller, Judith; Minopoli, Fiorella; Mirza, Ghazala K.; Munson, Jeff; Nelson, Stanley F.; Nygren, Gudrun; Oliveira, Guiomar; Pagnamenta, Alistair T.; Papanikolaou, Katerina; Parr, Jeremy R.; Parrini, Barbara; Pickles, Andrew; Pinto, Dalila; Piven, Joseph; Posey, David J.; Poustka, Annemarie; Poustka, Fritz; Ragoussis, Jiannis; Roge, Bernadette; Rutter, Michael L.; Sequeira, Ana F.; Soorya, Latha; Sousa, Inês; Sykes, Nuala; Stoppioni, Vera; Tancredi, Raffaella; Tauber, Maïté; Thompson, Ann P.; Thomson, Susanne; Tsiantis, John; Engeland, Herman; Vincent, John B.; Volkmar, Fred; Vorstman, Jacob A. S.; Wallace, Simon; Wang, Kai; Wassink, Thomas H.; White, Kathy; Wing, Kirsty; Wittemeyer, Kerstin; Yaspan, Brian L.; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D.; Cantor, Rita M.; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Geschwind, Daniel H.; Haines, Jonathan L.; Hallmayer, Joachim; Monaco, Anthony P.; Nurnberger, John I., Jr.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Sutcliffe, James S.; Szatmari, Peter; Vieland, Veronica J.; Wijsman, Ellen M.; Green, Andrew; Gill, Michael; Gallagher, Louise; Vicente, Astrid; Ennis, Sean
haplotype (HH) mapping, aims to detect ...
... 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 ...
... peripheral and central auditory pathways.  Homozygous 
Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C
Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C
King, Kelly A.; Gordon-Salant, Sandra; Pawlowski, Karen S.; Taylor, Anna M.; Griffith, Andrew J.; Houser, Ari; Kurima, Kiyoto; Wassif, Christopher A.; Wright, Charles G.; Porter, Forbes D.; Repa, Joyce J.; Brewer, Carmen C.
mutant Npc1 nih mice on a Balb/c ...
... (AC) for rs2283261; 14 % of patients were  homozygous 
ABCC8 Single Nucleotide Polymorphisms are Associated with Cerebral Edema in Severe TBI
ABCC8 Single Nucleotide Polymorphisms are Associated with Cerebral Edema in Severe TBI
Jha, Ruchira M.; Puccio, Ava M.; Okonkwo, David O.; Zusman, Benjamin E.; Park, Seo-Young; Wallisch, Jessica; Empey, Philip E.; Shutter, Lori A.; Clark, Robert S. B.; Kochanek, Patrick M.; Conley, Yvette P.
for the minor allele (CC, Table 2). ...
... CbCln3 wild-type, heterozygous, and  homozygous 
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
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 A; Lubicz-Nawrocka, Tanya; Teed, Allison M; Gao, Hanlin; Rigamonti, Dorotea; Cattaneo, Elena; MacDonald, Marcy E; Cotman, Susan L
neuronal precursor cell lines, which can ...
... reactions, permits resolution of  homozygous 
Two-temperature LATE-PCR endpoint genotyping
Two-temperature LATE-PCR endpoint genotyping
Sanchez, J Aquiles; Abramowitz, Jessica D; Salk, Jesse J; Reis, Arthur H, Jr; Rice, John E; Pierce, Kenneth E; Wangh, Lawrence J
and heterozygous genotypes based on ...
... selection (MAS), those plants that were  homozygous 
Introgression of acylsugar chemistry QTL modifies the composition and structure of acylsugars produced by high-accumulating tomato lines
Introgression of acylsugar chemistry QTL modifies the composition and structure of acylsugars produced by high-accumulating tomato lines
Smeda, John R.; Schilmiller, Anthony L.; Last, Robert L.; Mutschler, Martha A.
for the majority of the five CU071026 S. ...
... 10.5/F/W t(8;21) (AML-M2) t(11;16) 0/18/  homozygous 
Polymorphisms in the MLL breakpoint cluster region (BCR)
Polymorphisms in the MLL breakpoint cluster region (BCR)
Echlin-Bell, Deborah R.; Smith, Lydia L.; Li, Loretta; Strissel, Pamela L.; Strick, Reiner; Gupta, Vandana; Banerjee, Jhula; Larson, Richard; Relling, Mary V.; Raimondi, Susan C.; Hayashi, Yasuhide; Taki, Tomohiko; Zeleznik-Le, Nancy; Rowley, Janet D.
-(GAA)5/5 UC-2 17/F/B Hodgkin's disease ...
... position is represented by "X” while a  homozygous 
iXora: exact haplotype inferencing and trait association
iXora: exact haplotype inferencing and trait association
Utro, Filippo; Haiminen, Niina; Livingstone, Donald, III; Cornejo, Omar E; Royaert, Stefan; Schnell, Raymond J; Motamayor, Juan Carlos; Kuhn, David N; Laxmi, Parida
position is chosen to be 0. ...
... transgenes in barley, we crossed a  homozygous 
Stability and inheritance of endosperm-specific expression of two transgenes in progeny from crossing independently transformed barley plants
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 ...
... a panel of cell lines partially or fully  homozygous 
Very long haplotype tracts characterized at high resolution from HLA homozygous cell lines
Very long haplotype tracts characterized at high resolution from HLA homozygous cell lines
Norman, Paul J.; Norberg, Steve J.; Nemat-Gorgani, Neda; Royce, Thomas; Hollenbach, Jill A.; Shults Won, Melissa; Guethlein, Lisbeth A.; Gunderson, Kevin L.; Ronaghi, Mostafa; Parham, Peter
for HLA class I and II was assembled over ...
... caspase-independent mechanism.  Homozygous 
Functional PAK-2 knockout and replacement with a caspase cleavage-deficient mutant in mice reveals differential requirements of full-length PAK-2 and caspase-activated PAK-2p34
Functional PAK-2 knockout and replacement with a caspase cleavage-deficient mutant in mice reveals differential requirements of full-length PAK-2 and caspase-activated PAK-2p34
Marlin, Jerry W.; Chang, Yu-Wen E.; Ober, Margaret; Handy, Amy; Xu, Wenhao; Jakobi, Rolf
PAK-2D212N primary mouse embryonic ...
... Reserve University. For the all alleles,  homozygous 
Progression of Inner Ear Pathology in Ames Waltzer Mice and the Role of Protocadherin 15 in Hair Cell Development
Progression of Inner Ear Pathology in Ames Waltzer Mice and the Role of Protocadherin 15 in Hair Cell Development
Pawlowski, Karen S.; Kikkawa, Yayoi S.; Wright, Charles G.; Alagramam, Kumar N.
males were crossed to heterozygous ...
... with pcd 5J mice, and the resulting pcd 5J  homozygous 
Autophagy activation and enhanced mitophagy characterize the Purkinje cells of pcd mice prior to neuronal death
Autophagy activation and enhanced mitophagy characterize the Purkinje cells of pcd mice prior to neuronal death
Chakrabarti, Lisa; Eng, Jeremiah; Ivanov, Nishi; Garden, Gwenn A; La Spada, Albert R
- BAX heterozygous mice were crossed with ...
... are evident on the human chromosome. D-G.  Homozygous 
A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines
A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines
Boles, Melissa K; Wilkinson, Bonney M; Maxwell, Andrea; Lai, Lihua; Mills, Alea A; Nishijima, Ichiko; Salinger, Andrew P; Moskowitz, Ivan; Hirschi, Karen K; Liu, Bin; Bradley, Allan; Justice, Monica J
mutants, heterozygous balancer animals, ...
... deletions. Average stearic acid in lines  homozygous 
Effect of Δ9-stearoyl-ACP-desaturase-C mutants in a high oleic background on soybean seed oil composition
Effect of Δ9-stearoyl-ACP-desaturase-C mutants in a high oleic background on soybean seed oil composition
Ruddle, Paul, II; Whetten, Rebecca; Cardinal, Andrea; Upchurch, Robert G.; Miranda, Lilian
for the deletions was 12.2 %. ...
... 4. E. coli OP-50. 5. C. elegans strains  homozygous 
Analysis of Meiotic Recombination in Caenorhabditis elegans
Analysis of Meiotic Recombination in Caenorhabditis elegans
Hillers, Kenneth J.; Villeneuve, Anne M.
for linked morphological markers. ...
... sex reversal, who was, surprisingly,  homozygous 
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
Pop, Ramona; Zaragoza, Michael V.; Gaudette, Mara; Dohrmann, Ulrike; Scherer, Gerd
for the nonsense mutation Y440X. ...
... pharmacotherapy with disulfiram, while CC  homozygous 
Pharmacogenetics of Addiction Therapy
Pharmacogenetics of Addiction Therapy
Nielsen, David A.; Nielsen, Ellen M.; Dasari, Teja; Spellicy, Catherine J.
individuals, those carrying two copies of ...
... phenotypes in the Tom1l2 heterozygous and  homozygous 
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response
Girirajan, Santhosh; Hauck, Paula M.; Williams, Stephen; Vlangos, Christopher N.; Szomju, Barbara B.; Solaymani-Kohal, Sara; Mosier, Philip D.; White, Kimber L., Jr.; McCoy, Kathleen; Elsea, Sarah H.
mice. ...
... released high-confidence SNP, indel, and  homozygous 
svclassify: a method to establish benchmark structural variant calls
svclassify: a method to establish benchmark structural variant calls
Parikh, Hemang; Mohiyuddin, Marghoob; Lam, Hugo Y. K.; Iyer, Hariharan; Chen, Desu; Pratt, Mark; Bartha, Gabor; Spies, Noah; Losert, Wolfgang; Zook, Justin M.; Salit, Marc
reference genotypes for Coriell DNA sample ...
... in adults with idiopathic proteinuria.  Homozygous 
NPHS2variation in focal and segmental glomerulosclerosis
NPHS2variation in focal and segmental glomerulosclerosis
Tonna, Stephen J; Needham, Alexander; Polu, Krishna; Uscinski, Andrea; Appel, Gerald B; Falk, Ronald J; Katz, Avi; Al-Waheeb, Salah; Kaplan, Bernard S; Jerums, George; Savige, Judy; Harmon, Jennifer; Zhang, Kang; Curhan, Gary C; Pollak, Martin R
or compound heterozygous mutations in the ...
... controls. In our analyses, we identify one  homozygous 
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease
Nalls, M. A.; Guerreiro, R. J.; Simon-Sanchez, J.; Bras, J. T.; Traynor, B. J.; Gibbs, J. R.; Launer, L.; Hardy, J.; Singleton, A. B.
region on chromosome 8 that is ...