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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 ...
... 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 ...
... 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 ...
... PCCA c.425G > A(p. Gly142Asp) Founder  Homozygous 
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Alfadhel, Majid; Benmeakel, Mohammed; Hossain, Mohammad Arif; Al Mutairi, Fuad; Al Othaim, Ali; Alfares, Ahmed A.; Al Balwi, Mohammed; Alzaben, Abdullah; Eyaid, Wafaa
, missense c.350G > A (p.Gly117Asp) ...
... generated from mouse tissues bearing the  homozygous 
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
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 ...
... 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 ...
... 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 ...
... 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 ...
... 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 ...
... GCD2-heterozygous (n = 1), and GCD2-  homozygous 
Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
Maeng, Yong-Sun; Lee, Ga-Hyun; Choi, Seung-Il; Kim, Kyu Seo; Kim, Eung Kweon
(n = 3) primary human corneal fibroblasts ...
... novel methods to identify and compare  homozygous 
Computational Identification of Cancer Susceptibility Loci
Computational Identification of Cancer Susceptibility Loci
Laakso, Marko; Karinen, Sirkku; Lehtonen, Rainer; Hautaniemi, Sampsa
and compound heterozygous regions between ...
... eight cycles were done for couples with  homozygous 
Preimplation Diagnosis for Single-Gene Disorders
Preimplation Diagnosis for Single-Gene Disorders
Kuliev, Anver
or compound heterozygous male or female ...
... and/or severe hepatic disease who are  homozygous 
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis
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 ...
... lead to detection of non-tumor specific  homozygous 
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays
Staaf, Johan; Lindgren, David; Vallon-Christersson, Johan; Isaksson, Anders; Göransson, Hanna; Juliusson, Gunnar; Rosenquist, Richard; Höglund, Mattias; Borg, Åke; Ringnér, Markus
regions based solely on the marker ...
... and two in ALS2. Thirteen mutations are  homozygous 
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Herzfeld, Thilo; Wolf, Nicole; Winter, Pia; Hackstein, Holger; Vater, Daniel; Müller, Ulrich
and have occurred in children of ...
... locus where one of the individuals is  homozygous 
Rapid haplotype inference for nuclear families
Rapid haplotype inference for nuclear families
Williams, Amy L; Housman, David E; Rinard, Martin C; Gifford, David K
. ...
... 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 ...
... expression of YWHAQ (14-3-3-theta).  Homozygous 
Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors
Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors
Heidenblad, Markus; Lindgren, David; Jonson, Tord; Liedberg, Fredrik; Veerla, Srinivas; Chebil, Gunilla; Gudjonsson, Sigurdur; Borg, Åke; Månsson, Wiking; Höglund, Mattias
deletions were identified at 10 different ...
... Heterozygous genotype 32.5–36.1 %, variant  homozygous 
Structural Genomic Variation in NOD-Like Receptors and Cancer
Structural Genomic Variation in NOD-Like Receptors and Cancer
Kutikhin, Anton G.; Yuzhalin, Arseniy E.
genotype 5.2–3.4 % 191 cases, 291 controls ...
... atherosclerosis. Methods Participants  Homozygous 
Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism
Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism
Mosig, Sandy; Rennert, Knut; Büttner, Petra; Krause, Siegfried; Lütjohann, Dieter; Soufi, Muhidien; Heller, Regine; Funke, Harald
and heterozygous FH patients with ...
... Case report Spastic diplegia 1 – –  Homozygous 
The genomic basis of cerebral palsy: a HuGE systematic literature review
The genomic basis of cerebral palsy: a HuGE systematic literature review
O’Callaghan, M. E.; MacLennan, A. H.; Haan, E. A.; Dekker, G.; The South Australian Cerebral Palsy Research Group
, severe acute chorioamnionitis FVL – – – ...
... 68% of the SCD patients in the UAE were  homozygous 
Genetic Disorders in the United Arab Emirates
Genetic Disorders in the United Arab Emirates
Al-Gazali, Lihadh; Ali, Bassam R.
for the Saudi Arabian/Indian haplotype ...
... with MELAS (Abu-Amero et al. 2006c) and a  homozygous 
Genetic Disorders in Saudi Arabia
Genetic Disorders in Saudi Arabia
Al-Hassnan, Zuhair N.; Sakati, Nadia
R19H substitution in COX6B1 gene in two ...
... 2,676,067 SNVs and 463,158 INDELs were  homozygous 
Whole genome sequencing of Guzerá cattle reveals genetic variants in candidate genes for production, disease resistance, and heat tolerance
Whole genome sequencing of Guzerá cattle reveals genetic variants in candidate genes for production, disease resistance, and heat tolerance
Rosse, Izinara C.; Assis, Juliana G.; Oliveira, Francislon S.; Leite, Laura R.; Araujo, Flávio; Zerlotini, Adhemar; Volpini, Angela; Dominitini, Anderson J.; Lopes, Beatriz C.; Arbex, Wagner A.; Machado, Marco A.; Peixoto, Maria G. C. D.; Verneque, Rui S.; Martins, Marta F.; Coimbra, Roney S.; Silva, Marcos V. G. B.; Oliveira, Guilherme; Carvalho, Maria Raquel S.
, not found in any database searched, and ...
... form of the disease (Table 1). Thus, while  homozygous 
Towards the targeted management of Chediak-Higashi syndrome
Towards the targeted management of Chediak-Higashi syndrome
Lozano, Maria L; Rivera, Jose; Sánchez-Guiu, Isabel; Vicente, Vicente
or bi-allelic missense mutations are ...