|... that leads to loss of dysbindin-1 in
|Dysbindin-1 and Its Protein Family
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 ...
|... phenotypes and can be maintained via
|Mouse Models of Receptor Tyrosine Kinases
Mouse Models of Receptor Tyrosine Kinases
Holcmann, Martin; Amberg, Nicole; Drobits, Barbara; Glitzner, Elisabeth; Komposch, Karin; Robson, Jonathan; Savarese, Fabio; Srivatsa, Sriram; Stulnig, Gabriel; Sibilia, Maria
|... In case an affected individual carries a
|The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
Littink, Karin W.; Hollander, Anneke I.; Cremers, Frans P. M.; Collin, Rob W. J.
|mutation, the same mutation is inherited ...
|... single individual/tissue/organ with cells
|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, ...
|... 4. E. coli OP-50. 5. C. elegans strains
|Analysis of Meiotic Recombination in Caenorhabditis elegans
Analysis of Meiotic Recombination in Caenorhabditis elegans
Hillers, Kenneth J.; Villeneuve, Anne M.
|for linked morphological markers. ...
|... novel methods to identify and compare
|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
|Preimplation Diagnosis for Single-Gene Disorders
Preimplation Diagnosis for Single-Gene Disorders
|or compound heterozygous male or female ...
|... and/or severe hepatic disease who are
|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 ...
|... and also prevent the viability of animals
|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. ...
|... Heterozygous genotype 32.5–36.1 %, variant
|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 ...
|... 68% of the SCD patients in the UAE were
|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 ...
|... pharmacotherapy with disulfiram, while CC
|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 ...
|... with MELAS (Abu-Amero et al. 2006c) and a
|Genetic Disorders in Saudi Arabia
Genetic Disorders in Saudi Arabia
Al-Hassnan, Zuhair N.; Sakati, Nadia
|R19H substitution in COX6B1 gene in two ...
|... be used in preference. For instance, a
|mouse carrying transgene nicknamed “hpt” ...
|... to the oocyte donor, or MHC-
|Generation of Histocompatible Tissues via Parthenogenesis
Generation of Histocompatible Tissues via Parthenogenesis
Lampton, Paula W.; Newmark, Judith A.; Kiessling, Ann A.
|and histocompatible to a significant ...
|... this method is efficiency independent.
|High-Resolution Melting Analysis of Single Nucleotide Polymorphisms
High-Resolution Melting Analysis of Single Nucleotide Polymorphisms
Bruzzone, Carol M.; Steer, Clifford J.
|MJA and ...
|... for the mutation. In individuals who are
Cuppens, Harry; Dequeker, Elisabeth; Cassiman, Jean-Jacques
|for the deletion/insertion or wild-type ...
|... higher BMI than those individuals who were
|The Interaction Between Genetic Variation and Exercise and Physical Activity in the Determination of Body Composition and Obesity Status
The Interaction Between Genetic Variation and Exercise and Physical Activity in the Determination of Body Composition and Obesity Status
Sailors, Mary H.; Bray, Molly S.
|for the T allele and were also inactive. ...
|... or -6-bp/+6-bp; High expression:TS,
|Polymorphisms in Genes of Drug Targets and Metabolism
Polymorphisms in Genes of Drug Targets and Metabolism
Bohanes, Pierre; Lenz, Heinz-Josef
|3R with any 3’-UTR genotype and 2R/3R with ...
|... are created by hybridization between two
Singh, B. D.; Singh, A. K.
|lines usually having contrasting forms for ...
|... a lack of IL11RA transcripts in patients
|A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities
Papachristoforou, Rena; Petrou, Petros P.; Sawyer, Hilary; Williams, Maggie; Drousiotou, Anthi
|for the deletion. ...
|... (1,2,4). However, at least 95% of those
|Genotyping for Cytochrome P450 Polymorphisms
Genotyping for Cytochrome P450 Polymorphisms
Daly, Ann K.; King, Barry P.; Leathart, Julian B. S.
|or heterozygous for inactivating mutations ...
|... of wild type, heterozygous and
|Tumor Suppressors in Zebrafish: From TP53 to PTEN and Beyond
Tumor Suppressors in Zebrafish: From TP53 to PTEN and Beyond
|... cell disease usually refers to either
|Sickle Cell Disease
Sickle Cell Disease
Mallouh, Ahmad A.
|(SS) disease or doubly heterozygous ...
|... HPLC analysis. Results: Both patients with
|Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia
Kawashiri, Masa-aki; Tada, Hayato; Hashimoto, Marowa; Taniyama, Matsuo; Nakano, Takamitsu; Nakajima, Katsuyuki; Inoue, Takeshi; Mori, Mika; Nakanishi, Chiaki; Konno, Tetsuo; Hayashi, Kenshi; Nohara, Atsushi; Inazu, Akihiro; Koizumi, Junji; Ishihara, Hirotaka; Kobayashi, Junji; Hirano, Tsutomu; Mabuchi, Hiroshi; Yamagishi, Masakazu
|FHBL were asymptomatic probably because of ...