Search Results - (Author, Cooperation:L. Vives)
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1Latest Papers from Table of Contents or Articles in PressI. Iossifov ; B. J. O'Roak ; S. J. Sanders ; M. Ronemus ; N. Krumm ; D. Levy ; H. A. Stessman ; K. T. Witherspoon ; L. Vives ; K. E. Patterson ; J. D. Smith ; B. Paeper ; D. A. Nickerson ; J. Dea ; S. Dong ; L. E. Gonzalez ; J. D. Mandell ; S. M. Mane ; M. T. Murtha ; C. A. Sullivan ; M. F. Walker ; Z. Waqar ; L. Wei ; A. J. Willsey ; B. Yamrom ; Y. H. Lee ; E. Grabowska ; E. Dalkic ; Z. Wang ; S. Marks ; P. Andrews ; A. Leotta ; J. Kendall ; I. Hakker ; J. Rosenbaum ; B. Ma ; L. Rodgers ; J. Troge ; G. Narzisi ; S. Yoon ; M. C. Schatz ; K. Ye ; W. R. McCombie ; J. Shendure ; E. E. Eichler ; M. W. State ; M. Wigler
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-11-05Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Child ; Child Development Disorders, Pervasive/*genetics ; Cluster Analysis ; Exome/genetics ; Female ; Genes ; Genetic Predisposition to Disease/*genetics ; Humans ; Intelligence Tests ; Male ; Mutation/*genetics ; Open Reading Frames/*genetics ; Reproducibility of ResultsPublished by: -
2Latest Papers from Table of Contents or Articles in PressB. J. O'Roak ; L. Vives ; W. Fu ; J. D. Egertson ; I. B. Stanaway ; I. G. Phelps ; G. Carvill ; A. Kumar ; C. Lee ; K. Ankenman ; J. Munson ; J. B. Hiatt ; E. H. Turner ; R. Levy ; D. R. O'Day ; N. Krumm ; B. P. Coe ; B. K. Martin ; E. Borenstein ; D. A. Nickerson ; H. C. Mefford ; D. Doherty ; J. M. Akey ; R. Bernier ; E. E. Eichler ; J. Shendure
American Association for the Advancement of Science (AAAS)
Published 2012Staff ViewPublication Date: 2012-11-20Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Cephalometry ; Child ; Child Development Disorders, Pervasive/*genetics ; Child, Preschool ; Chromatin Assembly and Disassembly ; Cohort Studies ; DNA Probes ; DNA-Binding Proteins/genetics ; Exome ; Female ; *Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Megalencephaly/genetics ; Microcephaly/genetics ; *Mutation ; Nuclear Proteins/genetics ; PTEN Phosphohydrolase/genetics ; Protein-Serine-Threonine Kinases/genetics ; Protein-Tyrosine Kinases/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Repressor Proteins/genetics ; Sequence Analysis, DNA/*methods ; T-Box Domain Proteins/genetics ; Transcription Factors/genetics ; beta Catenin/genetics/metabolismPublished by: -
3Latest Papers from Table of Contents or Articles in PressB. J. O'Roak ; L. Vives ; S. Girirajan ; E. Karakoc ; N. Krumm ; B. P. Coe ; R. Levy ; A. Ko ; C. Lee ; J. D. Smith ; E. H. Turner ; I. B. Stanaway ; B. Vernot ; M. Malig ; C. Baker ; B. Reilly ; J. M. Akey ; E. Borenstein ; M. J. Rieder ; D. A. Nickerson ; R. Bernier ; J. Shendure ; E. E. Eichler
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-04-13Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Autistic Disorder/*genetics ; DNA-Binding Proteins/genetics ; Exome/*genetics ; Exons/*genetics ; GPI-Linked Proteins/genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Laminin/genetics ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins/genetics ; Parents ; Point Mutation/*genetics ; Protein Interaction Maps/*genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Reproducibility of Results ; Siblings ; Signal Transduction ; Sodium Channels/genetics ; Stochastic Processes ; Transcription Factors/genetics ; Tumor Suppressor Protein p53/metabolism ; beta Catenin/metabolismPublished by: -
4Latest Papers from Table of Contents or Articles in PressJ. Prado-Martinez ; P. H. Sudmant ; J. M. Kidd ; H. Li ; J. L. Kelley ; B. Lorente-Galdos ; K. R. Veeramah ; A. E. Woerner ; T. D. O'Connor ; G. Santpere ; A. Cagan ; C. Theunert ; F. Casals ; H. Laayouni ; K. Munch ; A. Hobolth ; A. E. Halager ; M. Malig ; J. Hernandez-Rodriguez ; I. Hernando-Herraez ; K. Prufer ; M. Pybus ; L. Johnstone ; M. Lachmann ; C. Alkan ; D. Twigg ; N. Petit ; C. Baker ; F. Hormozdiari ; M. Fernandez-Callejo ; M. Dabad ; M. L. Wilson ; L. Stevison ; C. Camprubi ; T. Carvalho ; A. Ruiz-Herrera ; L. Vives ; M. Mele ; T. Abello ; I. Kondova ; R. E. Bontrop ; A. Pusey ; F. Lankester ; J. A. Kiyang ; R. A. Bergl ; E. Lonsdorf ; S. Myers ; M. Ventura ; P. Gagneux ; D. Comas ; H. Siegismund ; J. Blanc ; L. Agueda-Calpena ; M. Gut ; L. Fulton ; S. A. Tishkoff ; J. C. Mullikin ; R. K. Wilson ; I. G. Gut ; M. K. Gonder ; O. A. Ryder ; B. H. Hahn ; A. Navarro ; J. M. Akey ; J. Bertranpetit ; D. Reich ; T. Mailund ; M. H. Schierup ; C. Hvilsom ; A. M. Andres ; J. D. Wall ; C. D. Bustamante ; M. F. Hammer ; E. E. Eichler ; T. Marques-Bonet
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-07-05Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Africa ; Animals ; Animals, Wild/genetics ; Animals, Zoo/genetics ; Asia, Southeastern ; Evolution, Molecular ; Gene Flow/genetics ; *Genetic Variation ; Genetics, Population ; Genome/genetics ; Gorilla gorilla/classification/genetics ; Hominidae/classification/*genetics ; Humans ; Inbreeding ; Pan paniscus/classification/genetics ; Pan troglodytes/classification/genetics ; Phylogeny ; Polymorphism, Single Nucleotide/genetics ; Population DensityPublished by: -
5Articles: DFG German National LicensesStaff View
ISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) from thirty-six unrelated spanish males was partially purified from blood, and the variants were characterized biochemically and electrophoretically according to the methods recommended by the World Health Organization. Subjects were from multiple geographic regions within Spain, and all suffered from hemolytic anemia, either acute (34 cases) or chronic nonspherocytic (2 cases). Almost all the variants studied presented residual erythrocyte G6PD activity ranging from 0 to 10% of normal, and five different mutants were responsible for the deficient phenotype. Three variants were similar to others previously described: G6PD Mediterranean (11 cases), G6PD Athens-like (3 cases), and G6PD Union (2 cases). The remaining variants were different from the numerous variants already reported and have been considered as new mutants. Provisionally they are called G6PD Betica (19 cases) and G6PD Menorca (1 case). The present study constitutes the first attempt to characterize the deficient G6PD variants found in Spain and supplies new data on the relationship between molecular characteristics of deficient variants and their clinical manifestations. The most important findings can be summarized as follows: (1) The Spanish population is characterized by an important heterogeneity in G6PD deficiency. (2) Although G6PD Mediterranean is very frequent, it presents a relatively high degree of polymorphism. (3) Favism has been observed associated with all kinds of variants described here. (4) G6PD Betica, which is the most frequent variant found in subjects of Southern Spanish origin, has been observed associated with favism in all cases except one.Type of Medium: Electronic ResourceURL: -
6Latest Papers from Table of Contents or Articles in PressHuddleston, J., Chaisson, M. J. P., Steinberg, K. M., Warren, W., Hoekzema, K., Gordon, D., Graves-Lindsay, T. A., Munson, K. M., Kronenberg, Z. N., Vives, L., Peluso, P., Boitano, M., Chin, C.-S., Korlach, J., Wilson, R. K., Eichler, E. E.
Cold Spring Harbor Laboratory Press
Published 2018Staff ViewPublication Date: 2018-01-03Publisher: Cold Spring Harbor Laboratory PressElectronic ISSN: 1549-5469Topics: BiologyMedicinePublished by: -
7Articles: DFG German National LicensesHertz, P.E. ; Arce-Hernandez, A. ; Ramirez-Vazquez, J. ; Tirado-Rivera, W. ; Vazquez-Vives, L.
Amsterdam : ElsevierStaff ViewISSN: 0300-9629Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyChemistry and PharmacologyType of Medium: Electronic ResourceURL: