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    I. Lazaridis ; N. Patterson ; A. Mittnik ; G. Renaud ; S. Mallick ; K. Kirsanow ; P. H. Sudmant ; J. G. Schraiber ; S. Castellano ; M. Lipson ; B. Berger ; C. Economou ; R. Bollongino ; Q. Fu ; K. I. Bos ; S. Nordenfelt ; H. Li ; C. de Filippo ; K. Prufer ; S. Sawyer ; C. Posth ; W. Haak ; F. Hallgren ; E. Fornander ; N. Rohland ; D. Delsate ; M. Francken ; J. M. Guinet ; J. Wahl ; G. Ayodo ; H. A. Babiker ; G. Bailliet ; E. Balanovska ; O. Balanovsky ; R. Barrantes ; G. Bedoya ; H. Ben-Ami ; J. Bene ; F. Berrada ; C. M. Bravi ; F. Brisighelli ; G. B. Busby ; F. Cali ; M. Churnosov ; D. E. Cole ; D. Corach ; L. Damba ; G. van Driem ; S. Dryomov ; J. M. Dugoujon ; S. A. Fedorova ; I. Gallego Romero ; M. Gubina ; M. Hammer ; B. M. Henn ; T. Hervig ; U. Hodoglugil ; A. R. Jha ; S. Karachanak-Yankova ; R. Khusainova ; E. Khusnutdinova ; R. Kittles ; T. Kivisild ; W. Klitz ; V. Kucinskas ; A. Kushniarevich ; L. Laredj ; S. Litvinov ; T. Loukidis ; R. W. Mahley ; B. Melegh ; E. Metspalu ; J. Molina ; J. Mountain ; K. Nakkalajarvi ; D. Nesheva ; T. Nyambo ; L. Osipova ; J. Parik ; F. Platonov ; O. Posukh ; V. Romano ; F. Rothhammer ; I. Rudan ; R. Ruizbakiev ; H. Sahakyan ; A. Sajantila ; A. Salas ; E. B. Starikovskaya ; A. Tarekegn ; D. Toncheva ; S. Turdikulova ; I. Uktveryte ; O. Utevska ; R. Vasquez ; M. Villena ; M. Voevoda ; C. A. Winkler ; L. Yepiskoposyan ; P. Zalloua ; T. Zemunik ; A. Cooper ; C. Capelli ; M. G. Thomas ; A. Ruiz-Linares ; S. A. Tishkoff ; L. Singh ; K. Thangaraj ; R. Villems ; D. Comas ; R. Sukernik ; M. Metspalu ; M. Meyer ; E. E. Eichler ; J. Burger ; M. Slatkin ; S. Paabo ; J. Kelso ; D. Reich ; J. Krause
    Nature Publishing Group (NPG)
    Published 2014
    Staff View
    Publication Date:
    2014-09-19
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Agriculture/history/manpower ; Asia/ethnology ; Europe ; European Continental Ancestry Group/*classification/*genetics ; Genome, Human/*genetics ; History, Ancient ; Humans ; Population Dynamics ; Principal Component Analysis
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1432-1076
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004310051018

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1023/A:1005628717813

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary The results of the neonatal screening for phenylalanine hydroxylase (PAH) deficiency in Sicily show that its incidence is higher than previously reported for mainland Italians and that non-PKU HPA is in excess of classical and mild PKU. The latter finding suggests that a high number of non-PKU HPA mutations would occur in the Sicilian population compared to populations with an inverted PKU/non-PKU HPA ratio. Previous studies have identified 40 mutations accounting for the majority (98%) of mutant alleles underlying PAH deficiency in Sicily. In order to study the molecular basis of the distribution of PAH deficiency phenotypes in the Sicilian population, we have correlated 31 of those mutations with clinical and metabolic phenotypes in 12 mentally retarded patients, 14 treated patients with classic or mild PKU, and 13 subjects presenting the non-PKU HPA phenotype. The present study proposes a tentative classification for a large number (26) of PAH gene mutations which may represent an additional tool for establishing a differential diagnosis for PAH deficiency in the Sicilian population.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01799343

    Articles: DFG German National Licenses