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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 ...
... (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 ...
... 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 ...
... 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 ...
... 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. ...
... 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 ...
... 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 ...
... 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 ...
... 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 ...
... 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, ...
... 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 ...
... significance of cats being heterozygous or  homozygous 
Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation - the clinical significance of having the mutation
Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation - the clinical significance of having the mutation
Godiksen, Mia TN; Granstrøm, Sara; Koch, Jørgen; Christiansen, Michael
for the mutation with respect to ...
... 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 ...
... of the lung. Some studies suggest that  homozygous 
Prevalence of Variants in Methylenetetrahydrofolate Reductase and the Severity of Pulmonary Vascular Disease
Prevalence of Variants in Methylenetetrahydrofolate Reductase and the Severity of Pulmonary Vascular Disease
Day, R. W.; Mack, G. K.; Barker, A. M.; Rees, T. Q.; Jorgensen, L. O.; Botto, L. D.
677TT variants and compound heterozygous ...
... augmented contractile response in humans  homozygous 
The Arg389Gly β1-adrenoceptor gene polymorphism influences the acute effects of β-adrenoceptor blockade on contractility in the human heart
The Arg389Gly β1-adrenoceptor gene polymorphism influences the acute effects of β-adrenoceptor blockade on contractility in the human heart
Huntgeburth, Michael; La Rosée, Karl; ten Freyhaus, Henrik; Böhm, Michael; Schnabel, Petra; Hellmich, Martin; Rosenkranz, Stephan
for the Arg389 allele. ...
... peritonitis are the most frequent signs of  homozygous 
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey
Kilinc, Metin; Ganiyusufoglu, Eda; Sager, Hatice; Celik, Ahmet; Olgar, Seref; Cetin, Gozde Yildirim; Davutoglu, Mehmet; Altunoren, Orcun
M694V and combine heterozygous mutations. ...
... CMT patients to display the location of  homozygous 
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
Fischer, Carina; Trajanoski, Slave; Papić, Lea; Windpassinger, Christian; Bernert, Günther; Freilinger, Michael; Schabhüttl, Maria; Arslan-Kirchner, Mine; Javaher-Haghighi, Poupak; Plecko, Barbara; Senderek, Jan; Rauscher, Christian; Löscher, Wolfgang N.; Pieber, Thomas R.; Janecke, Andreas R.; Auer-Grumbach, Michaela
regions and their extent of marker count ...
... and also prevent the viability of animals  homozygous 
Analyzing the Function of Tumor Suppressor Genes Using a Drosophila Model
Analyzing the Function of Tumor Suppressor Genes Using a Drosophila Model
Pagliarini, Raymond A.; Quiñones, Ana T.; Xu, Tian
for the balancer chromosome. ...
... affected and unaffected individuals were  homozygous 
Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
Chograni, Manèl; Chaabouni, Myriam; Mâazoul, Faouzi; Bouzid, Hedi; Kraiem, Abdelhafid; Chaabouni, Habiba B Bouhamed
for the modified alleles. ...
... 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 ...
... carrying the heterozygous (AG) and  homozygous 
Impact of CYP3A4*18 and CYP3A5*3 Polymorphisms on Imatinib Mesylate Response Among Chronic Myeloid Leukemia Patients in Malaysia
Impact of CYP3A4*18 and CYP3A5*3 Polymorphisms on Imatinib Mesylate Response Among Chronic Myeloid Leukemia Patients in Malaysia
Maddin, Najlaa; Husin, Azlan; Gan, Siew Hua; Aziz, Baba Abdul; Ankathil, Ravindran
variant (GG) genotype of CYP3A5*3 were ...
... 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 ...