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  1. 1061
    “…The variant was a homozygous nonsense mutation in exon 2 of the ATM gene that resulted in the formation of a stop codon and premature truncation of the protein at codon 23 in exon 2 (p.Arg23Ter). …”
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    Ataxia Telangiectasia Presenting as Cervical Dystonia
  2. 1062
    “…Most of the pathogenic SALL1 variants are nonsense and frameshift, likely escaping nonsense-mediated mRNA decay and causing disease via a dominant-negative mechanism. …”
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    Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome
  3. 1063
    por Crayton, Christopher
    Publicado 2007
    “… This no-nonsense guide was created with one purpose in mind: to ensure your readiness to pass Microsoft's Windows Vista Configuration Exam 70-620. …”
    Enlace del recurso
    Microsoft Windows Vista Exam 70-620 Guide
  4. 1064
    por Biersdorfer, J D
    Publicado 2008
    “…One thing they haven't delivered is an easy guide for getting the most from this sleek entertainment center. iPod: The Missing Manual, 7th Edition gives you a no-nonsense view of the latest iPod line, with crystal-clear explanations, easy-to-follow color graphics, and guidance on the most useful things your iPod can do.…”
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    iPod: the missing manual
  5. 1065
    por Panek, William
    Publicado 2010
    “…This well-organized, portable reference covers every facet of Windows 7, providing no-nonsense instruction that is readily accessible when you need it. …”
    Enlace del recurso
    Microsoft Windows 7 Administration Instant Reference
  6. 1066
    por Fell, Gregory J
    Publicado 2013
    “…Gain greater returns from your IT investments Revealing the secrets to proven, effective strategies that enable businesses to leverage the full value of highly expensive IT investments, Decoding the IT Value Problem is a no-nonsense guide for making smart IT investments and cutting through the noise of vendor marketing and media hype. …”
    Enlace del recurso
    Decoding the IT value problem: an executive guide for achieving optimal ROI on critical IT investments
  7. 1067
    por Chambers, James
    Publicado 2013
    “… A no-nonsense guide to maintaining websites in Windows Azure If you're looking for a straightforward, practical guide to get Azure websites up and running, then this is the book for you. …”
    Enlace del recurso
    Windows Azure web sites
  8. 1068
    por Oualline, Steve, Oram, Andrew
    Publicado 1997
    “…There are lots of introductory C books, but this is the first one that has the no-nonsense, practical approach that has made Nutshell Handbooks® famous. …”
    Enlace del recurso
    Practical C programming
  9. 1069
    por Wiegers, Karl E
    Publicado 2006
    “…Too often, lessons about requirements engineering processes lack the no-nonsense guidance that supports real-world solutions. …”
    Enlace del recurso
    More about software requirements: thorny issues and practical advice
  10. 1070
    “…In accord with the rote memory notion, we expected an equal recognition performance for high and low associative stimuli and superior memorizing of nonsense material compared to control participants. …”
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    Recognition Memory for High and Low Associative Stimuli in Autistic Individuals with Outstanding Memory Skill
  11. 1071
    “…In this paper we first show that in-frame exon length variations are generally overrepresented and that this overrepresentation can be quantitatively explained by the effect of nonsense-mediated decay. Our analysis allows us to estimate that about 50% of frame-shifted coding transcripts are targeted by nonsense-mediated decay. …”
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    A Simple Physical Model Predicts Small Exon Length Variations
  12. 1072
    “…Frameshift and nonsense mutations are common in tumors with microsatellite instability, and mRNAs from these mutated genes have premature termination codons (PTCs). …”
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    Selective Translational Repression of Truncated Proteins from Frameshift Mutation-Derived mRNAs in Tumors
  13. 1073
    “…The nonsense mutation was novel. The clinical courses of the patients were typical of CNF. …”
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    Two Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type
  14. 1074
    “…More recently, missense, nonsense and frameshift mutations have also been identified in the glycine transporter GlyT2 gene, SLC6A5, demonstrating a presynaptic component to this disease. …”
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    The Glycinergic System in Human Startle Disease: A Genetic Screening Approach
  15. 1075
    “…According to our recent works, the probability of nonsense mutation caused by replication-associated mutational pressure is higher for genes from lagging strands than for genes from leading strands of both bacterial and archaeal genomes. …”
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    A Blueprint for a Mutationist Theory of Replicative Strand Asymmetries Formation
  16. 1076
    “…From thirteen to 137 nonsense mutations are present in each strain and indel sizes are shown to be highly skewed in gene coding sequence. …”
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    Rediscovery by Whole Genome Sequencing: Classical Mutations and Genome Polymorphisms in Neurospora crassa
  17. 1077
    “…One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway. …”
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    Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1
  18. 1078
    “…We show that the mutant allele is degraded by nonsense mediated mRNA decay, expected to result in haploinsufficiency of the mutant allele. …”
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    Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model
  19. 1079
    “…Genetic analysis revealed a novel nonsense homozygous mutation c.32C>A, p.(Ser11*) in three patients of a consanguineous family and an 8 bp homozygous duplication c.26_33dupAGGTGTCG, p.…”
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    Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G
  20. 1080
    “…Eukaryotic mRNAs with premature translation-termination codons (PTCs) are recognized and eliminated by nonsense-mediated mRNA decay (NMD). NMD substrates can be degraded by different routes that all require phosphorylated UPF1 (P-UPF1) as a starting point. …”
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    A novel phosphorylation-independent interaction between SMG6 and UPF1 is essential for human NMD
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