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*  Frontiers | Neurobehavioral phenotyping of Gαq knockout mice reveals impairments in motor functions and spatial working memory...
Mice homozygous for a deletion in Gαq have previously been described as exhibiting deficits in motor function including loss of ... The sequence of individual arm entries was scored by the observer in real time and used to calculate the percentage of ... Karasinska, J. M., George, S. R., Cheng, R., and O'Dowd, B. F. (2005). Deletion of dopamine D1 and D3 receptors differentially ... amino acid sequence homology and couple receptor stimulation to the activation of phospholipase C (PLC)-β isoforms, ...
https://www.frontiersin.org/articles/10.3389/fnbeh.2012.00029/full
*  Aortopathy Panel, Sequencing and Deletion/Duplication | ARUPConsult Lab Test Selection
Aortopathy Panel, Sequencing and Deletion/Duplication Aortopathy Panel, Sequencing and Deletion/Duplication 2006540. Method: ... Deletions/duplications/insertions of any size by massively parallel sequencing. *Deletions/duplications less than 1kb in the ... Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication 2005584. Method: Polymerase Chain Reaction/Sequencing/Multiplex ... Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing 2002705. Method: Polymerase Chain Reaction/Sequencing ...
https://arupconsult.com/ati/Aortopathy-Panel
*  Holoprosencephaly Panel, Sequencing and Deletion/Duplication
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions ...
http://ltd.aruplab.com/tests/pub/2008848
*  CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication
Background Information for CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication:. Characteristics: Vary widely ... The breakpoints of large deletions/duplications will not be determined.. Compliance Statement C: For human genetic inheritable ... Methodology: Bidirectional sequencing of the CDKL5 coding region and intron-exon boundaries. Multiplex ligation-dependent probe ... Analytical Sensitivity and Specificity of Sequencing and MLPA: 99 percent. Limitations: Diagnostic errors can occur due to rare ...
http://ltd.aruplab.com/tests/pub/2004935
*  Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication
Background information for Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication:. Characteristics: ... Diagnostic errors can occur due to rare sequence variations.. Compliance Statement C: For human genetic inheritable conditions ... Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of SLC22A5 gene; Multiplex ... Limitations: Mutations in genes other than SLC22A5 will not be detected; deletion/duplication breakpoints will not be ...
http://ltd.aruplab.com/Tests/Pub/2004203
*  Nf1 Sequencing And Deletion/duplication - Quest Diagnostics Nichols Institute of Valencia
Methodology: Massively Parallel Sequencing. Report available: 12 days from completed pre-authorization. ...
http://specialtylabs.com/tests/details.asp?id=93941
*  CDH1 Sequencing and Deletion/Duplication - Quest Diagnostics Nichols Institute of Valencia
Sequencing and deletion/duplication analyses of the CDH1 gene will identify individuals at risk for CHD1-related cancers. ...
http://www.specialtylabs.com/tests/details.asp?id=92568
*  Stk11 Sequencing And Deletion/duplication - Quest Diagnostics Nichols Institute of Valencia
Sequencing and deletion/duplication analyses of the STK11 gene will identify individuals who are affected with PJS and ...
http://specialtylabs.com/tests/details.asp?id=92565
*  RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication
Background Information for RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication: Characteristics: Multifocal, ... Methodology: Bidirectional sequencing of all coding regions and intron-exon boundaries of the RASA1 gene; Multiplex Ligation- ... The breakpoints of large deletions/duplications will not be determined.. Compliance Statement C: For human genetic inheritable ... Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic ...
http://ltd.aruplab.com/Tests/Pub/2007852
*  Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication
Background Information for Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication:. Characteristics: ... Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the MEN1 gene. Multiplex ... The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than MEN1 are not evaluated.. ... Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic ...
http://ltd.aruplab.com/tests/pub/2005360
*  Replication error deficient and proficient colorectal cancer gene expression differences caused by 3'UTR polyT sequence...
Sequence analysis of the 3'UTRs of a selection of the most differentially expressed genes shows that they all contain deletions ... Analysis of the incidence of mononucleotide repeat sequences in the 3'UTRs, 5'UTRs, and coding sequences of those genes most ... are found in the 3'UTR sequence of most genes. The relevant sequences are typically A/U-rich elements or U repeats. Microarray ... These cancers are typically pseudodiploid, accumulate mutations in repetitive sequences as a result of their mismatch repair ...
https://www.rdm.ox.ac.uk/publications/179140
*  Identifying direct repeats in flanking sequences of deletions
Now, I want to find out if deletions are flanked by direct repeats. I.e, for each individual deletion, are direct repeats ... Why is the noise level higher in regions with amplification than regions with deletion in the genome? Hi all, I am writing a ... Is there a more efficient way of checking multiple sequences for how many hits they have in the human genome? Currently I'm ... Question about non-polymorphic site and flanking sequence. Hi. I have studied genetic variation and something ambiguous terms ...
https://www.biostars.org/p/357849/
*  Sprites: detection of deletions from sequencing data by re-aligning split reads
There are three types of deletions: blunt deletions, deletions with microhomologies and deletions with microsinsertions. The ... It is highly appealing to develop sensitive and accurate methods to detect deletions from sequencing data, especially deletions ... Sprites: detection of deletions from sequencing data by re-aligning split reads. ... Furthermore, finding deletions from sequencing data remains challenging. ...
https://insights.ovid.com/bioinf/201632120/00124336-201632120-00005
*  ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and Deletion/Duplication
Background Information for ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and Deletion/Duplication. ... to detect large ATP7A deletions/duplications.. Analytical Sensitivity and Specificity: 99 percent for sequencing; 99 percent ... Methodology: Bidirectional sequencing of all coding regions and intron-exon boundaries of the ATP7A gene; Multiplex Ligation- ... The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than ATP7A will not be ...
http://ltd.aruplab.com/Tests/Pub/2008471
*  Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication
Background Information for Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication:. Characteristics: ... The breakpoints of large deletions/duplications will not be determined.. Compliance Statement C: For human genetic inheritable ... Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the OTC gene. Multiplex ... Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic ...
http://ltd.aruplab.com/Tests/Pub/2004896
*  Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication
Background Information for Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication. Characteristics: Hamartomatous ... Deletion/duplication breakpoints will not be determined. Compliance Statement C: For human genetic inheritable conditions and ... Methodology: Bidirectional sequencing and multiplex ligation-dependent probe amplification (MLPA) of the entire coding region ... 2008398 - Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication. http://ltd.aruplab.com/tests/pub/2008398 ...
http://ltd.aruplab.com/Tests/Pub/2008398
*  Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication
Genes Sequenced: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, ... Genes Deletion/Duplication: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, ... Genes Deletion/Duplication: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, LMBRD1, MAT1A ... Genes Sequenced: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A ...
http://ltd.aruplab.com/tests/pub/2011157
*  Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
Sequencing and Deletion/Duplication. *2009326 Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication ... 2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication. *2002470 PTEN-Related Disorders (PTEN) Sequencing and Deletion/ ... 2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication. *2007852 RASA1-Related Disorders (RASA1) ... 0051382 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion Duplication. *0051510 Juvenile Polyposis ...
http://ltd.aruplab.com/Tests/Pub/2007384
*  Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes, Fetal
2008863 - Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes, Fetal. http://ltd.aruplab.com/ ...
http://ltd.aruplab.com/Tests/Pub/2008863
*  Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis ...
Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication ... Limitations: Diagnostic errors can occur due to rare sequence variations. The breakpoints of large deletions/duplication cannot ... Background Information for Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication. ... Analytic Sensitivity: 99 percent for sequencing and 90 percent for MLPA.. Analytic Specificity: 99 percent for sequencing and ...
http://ltd.aruplab.com/tests/pub/2009008
*  List Element Deletion - Sequence Mutation and Accumulation Patterns | Coursera
List Element Deletion. Para ver este video, habilita JavaScript y considera la posibilidad de actualizar tu navegador a una ... Sequence Mutation and Accumulation Patterns. In week four we will present deeper knowledge on using lists, strings, and python ...
https://es.coursera.org/lecture/python-basics/list-element-deletion-E0WjP
*  HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication
Background Information for HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication:. Characteristics: Increased risk of ... Test Limitations: Diagnostic errors can occur due to rare sequence variations. The breakpoints of large deletions/duplications ... Methodology: Bidirectional sequencing of MSH6 coding regions and intron-exon boundaries; multiplex ligation-dependent probe ... amplification (MLPA) to detect large MSH6 exonic deletions.. ...
http://ltd.aruplab.com/Tests/Pub/0051656
*  Global fitness profiling of fission yeast deletion strains by barcode sequencing | Genome Biology | Full Text
Here we use deep sequencing to accurately characterize the barcode sequences in the deletion library, thus enabling the ... quantitative measurement of the fitness of fission yeast deletion strains by barcode sequencing. ... A genome-wide deletion library is a powerful tool for probing gene functions and one has recently become available for the ... Here we use deep sequencing to accurately characterize the barcode sequences in the deletion library, thus enabling the ...
https://genomebiology.biomedcentral.com/articles/10.1186/gb-2010-11-6-r60
*  21 New Sequencing and Deletion / Duplication Tests Added | Connective Tissue Gene Tests
March 5, 2015 - Connective Tissue Gene Tests (CTGT) is pleased to announce 21 new Sequencing and Deletion / Duplication tests. ...
http://ctgt.net/news/21-new-sequencing-and-deletion-duplication-tests-added-0