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  1. 1981
    “…Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. …”
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    Splice Site Mutations in the ATP7A Gene
  2. 1982
    “…We performed, in a clinical setting, a systematic validation of dideoxy ‘Sanger’ sequencing and pyrosequencing against massively parallel sequencing as one of the most sensitive mutation detection technologies available. Mutational annotation of clinical lung tumor samples revealed that of all patients with a confirmed response to EGFR inhibition, only massively parallel sequencing detected all relevant mutations. …”
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    Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens
  3. 1983
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    Spontaneous inactivating p53 mutations and the “selfish cell”
  4. 1984
    Publicado 2011
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    Investigating a new Noonan syndrome mutation in zebrafish
  5. 1985
    “…In this paper, a yeast BTHS mutant tafazzin panel is established, and 18 of the 21 tested BTHS missense mutations cannot functionally replace endogenous tafazzin. …”
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    Barth syndrome mutations that cause tafazzin complex lability
  6. 1986
    “…PURPOSE: To determine the spectrum and frequency of rhodopsin gene (RHO) mutations in Korean patients with retinitis pigmentosa (RP) and to characterize genotype–phenotype correlations in patients with mutations. …”
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    Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa
  7. 1987
    “…Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. …”
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    RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
  8. 1988
    “…Based on the premise of protein mutational landscapes, AmyloidMutants energetically quantifies the effects of sequence mutation on fibril conformation and stability. …”
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    A method for probing the mutational landscape of amyloid structure
  9. 1989
    “…CONCLUSIONS: These results indicate that the TOP1 mutations are involved in the development of SN38 resistance. …”
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    New Topoisomerase I mutations are associated with resistance to camptothecin
  10. 1990
    por Temereanca, A, Ene, L, Duiculescu, D, Ruta, S
    Publicado 2011
    “…Drug resistance mutations are frequently detected in antiretroviral–naive HIV positive patients, however the data on transmitted resistance in non-B subtypes are limited. …”
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    Major HIV resistance mutations in untreated Romanian patients
  11. 1991
    “…Most hereditary PAH is associated with BMPR2 mutations. However, the physiologic and molecular consequences of expression of BMPR2 mutations in PMVEC are unknown. …”
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    Physiologic and molecular consequences of endothelial Bmpr2 mutation
  12. 1992
    “…BACKGROUND: In asexual populations, mutators may be expected to hitchhike with associated beneficial mutations. …”
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    Mutator dynamics in sexual and asexual experimental populations of yeast
  13. 1993
    “…PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha subunit (Gsa). …”
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    Identification of a Novel Mutation in a Pseudohypoparathyroidism Family
  14. 1994
    “…PURPOSE: To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population. …”
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    Mutation spectrum of PAX6 in Chinese patients with aniridia
  15. 1995
    por Chun, Sung, Fay, Justin C.
    Publicado 2011
    “…Deleterious mutations present a significant obstacle to adaptive evolution. …”
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    Evidence for Hitchhiking of Deleterious Mutations within the Human Genome
  16. 1996
    “…Therapy decisions could be further improved, both in terms of predicting length of current therapy success and in preserving followup therapy options, through better knowledge of mutational pathways- here defined as specific locations on the viral genome which, when mutant, alter the risk that additional specific mutations arise. …”
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    HIV-1 mutational pathways under multidrug therapy
  17. 1997
    “…In addition to the variants identified in normal tissues, cancer cells harbored additional homoplasmic and heteroplasmic mutations that could also be detected in patient plasma. …”
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    Heteroplasmic mitochondrial DNA mutations in normal and tumor cells
  18. 1998
    “…The fate of a newly arising beneficial mutation depends on many factors, such as the population size and the availability and fitness effects of other mutations that accumulate in the population. …”
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    Genetic Variation and the Fate of Beneficial Mutations in Asexual Populations
  19. 1999
    por Takahashi, Shinichiro
    Publicado 2011
    “…The identification of genetic mutations in AML has greatly advanced our understanding of leukemogenesis. …”
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    Current findings for recurring mutations in acute myeloid leukemia
  20. 2000
    “…CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). …”
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    Frontotemporal Dementia Caused by CHMP2B Mutations
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