Snippet Search

Searching 11,377,177 documents.
Discover how a particular term or phrase is used in scientific literature

Showing 26 to 50 of 49625 matching articles

Results per page:

... 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 ...
... of contiguous homozygosity (runs of  homozygous 
hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets
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 ...
... 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 ...
...  Homozygous 
Recovery and characterization of homozygous lines from two sweet orange cultivars via anther culture
Recovery and characterization of homozygous lines from two sweet orange cultivars via anther culture
Wang, Shu-Ming; Lan, Hong; Cao, Hong-Bo; Xu, Qiang; Chen, Chun-Li; Deng, Xiu-Xin; Guo, Wen-Wu
genotypes are valuable for breeding and ...
... approach to identify a subset of  homozygous 
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation
Preeprem, Thanawadee; Gibson, Greg
non-synonymous single nucleotide ...
... desmin and in muscles of hetero- and  homozygous 
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Winter, Lilli; Wittig, Ilka; Peeva, Viktoriya; Eggers, Britta; Heidler, Juliana; Chevessier, Frederic; Kley, Rudolf A.; Barkovits, Katalin; Strecker, Valentina; Berwanger, Carolin; Herrmann, Harald; Marcus, Katrin; Kornblum, Cornelia; Kunz, Wolfram S.; Schröder, Rolf; Clemen, Christoph S.
knock-in mice carrying the R349P desmin ...
... BB genotype composition (high β-carotene  homozygous 
Interaction of the mutant genes B, ogc, hp and t in the coloring of tomato fruit
Interaction of the mutant genes B, ogc, hp and t in the coloring of tomato fruit
Andrade, Thiago Matos; Maluf, Wilson Roberto; Oliveira, Celso Mattes; Gomes, Luiz Antônio Augusto; Santos, Daniela Costa; Carvalho, Regis de Castro; Gonçalves, Ranoel José de Sousa; Gonçalves Neto, Álvaro Carlos
) were used in hybrid combinations with 7 ...
... 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. ...
... 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 ...
... could significantly rescue both toy and ey  homozygous 
The Drosophila Pax6 paralogs have different functions in head development but can partially substitute for each other
The Drosophila Pax6 paralogs have different functions in head development but can partially substitute for each other
Jacobsson, Linn; Kronhamn, Jesper; Rasmuson-Lestander, Åsa
mutants to viability. ...
... 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 ...
... 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 ...
... promoter was able to restore growth of  homozygous 
Requirement of proline synthesis during Arabidopsis reproductive development
Requirement of proline synthesis during Arabidopsis reproductive development
Funck, Dietmar; Winter, Gudrun; Baumgarten, Lukas; Forlani, Giuseppe
p5cr mutant embryos. ...
... was the cause of male sterility in  homozygous 
A gain-of-function mutation of transcriptional factor PTL results in curly leaves, dwarfism and male sterility by affecting auxin homeostasis
A gain-of-function mutation of transcriptional factor PTL results in curly leaves, dwarfism and male sterility by affecting auxin homeostasis
Li, Xin; Qin, Genji; Chen, Zhangliang; Gu, Hongya; Qu, Li-Jia
ptl-D. ...
... pain was reported more often in patients  homozygous 
Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever
Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever
Kilic, Ayse; Varkal, Muhammet Ali; Durmus, Mehmet Sait; Yildiz, Ismail; Yıldırım, Zeynep Nagihan Yürük; Turunc, Gorkem; Oguz, Fatma; Sidal, Mujgan; Omeroglu, Rukiye Eker; Emre, Sevinc; Yilmaz, Yasin; Kelesoglu, Fatih Mehmet; Gencay, Genco Ali; Temurhan, Sonay; Aydin, Filiz; Unuvar, Emin
for M694V (61.4 %). ...
... Wild-type mice and mice heterozygous or  homozygous 
Impact of the factor V Leiden mutation on the outcome of pneumococcal pneumonia: a controlled laboratory study
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 ...
... used to lower lipid levels in adults with  homozygous 
Lomitapide: A Review of its Use in Adults with Homozygous Familial Hypercholesterolemia
Lomitapide: A Review of its Use in Adults with Homozygous Familial Hypercholesterolemia
Perry, Caroline M.
familial hypercholesterolemia, a rare, ...
... displayed male sterile phenotype in the  homozygous 
A novel T-DNA integration in rice involving two interchromosomal translocations
A novel T-DNA integration in rice involving two interchromosomal translocations
Majhi, Bharat Bhusan; Shah, Jasmine M.; Veluthambi, Karuppannan
condition. ...
... expressing the transgene in hemizygous and  homozygous 
Relative transgene expression frequencies in homozygous versus hemizygous transgenic mice
Relative transgene expression frequencies in homozygous versus hemizygous transgenic mice
Chang, Su-Ping; Opsahl, Margaret L.; Whitelaw, C. Bruce A.; Morley, Steven D.; West, John D.
mosaic 21OH/LacZ mouse adrenals and mosaic ...
... single individual/tissue/organ with cells  homozygous 
Mosaic Analysis in the Drosophila melanogaster Ovary
Mosaic Analysis in the Drosophila melanogaster Ovary
Rubin, Thomas; Huynh, Jean-René
and cells heterozygous for this mutation, ...
... 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 %. ...
... and ApoE ε4/ε4 homozygosity an ApoE ε4/ε4  homozygous 
A large ApoE ε4/ε4 homozygous cohort reveals no association with Parkinson’s disease
A large ApoE ε4/ε4 homozygous cohort reveals no association with Parkinson’s disease
Multhammer, Manuel; Michels, Andreas; Zintl, Maria; Mendoza, Maria Cristina; Klünemann, Hans-Hermann
cohort was compared with an ApoE ε3/ε3 ...
... 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. ...
... 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 ...