Search Results - (Author, Cooperation:M. Pirastu)

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  1. 1
    P. K. Joshi ; T. Esko ; H. Mattsson ; N. Eklund ; I. Gandin ; T. Nutile ; A. U. Jackson ; C. Schurmann ; A. V. Smith ; W. Zhang ; Y. Okada ; A. Stancakova ; J. D. Faul ; W. Zhao ; T. M. Bartz ; M. P. Concas ; N. Franceschini ; S. Enroth ; V. Vitart ; S. Trompet ; X. Guo ; D. I. Chasman ; J. R. O'Connel ; T. Corre ; S. S. Nongmaithem ; Y. Chen ; M. Mangino ; D. Ruggiero ; M. Traglia ; A. E. Farmaki ; T. Kacprowski ; A. Bjonnes ; A. van der Spek ; Y. Wu ; A. K. Giri ; L. R. Yanek ; L. Wang ; E. Hofer ; C. A. Rietveld ; O. McLeod ; M. C. Cornelis ; C. Pattaro ; N. Verweij ; C. Baumbach ; A. Abdellaoui ; H. R. Warren ; D. Vuckovic ; H. Mei ; C. Bouchard ; J. R. Perry ; S. Cappellani ; S. S. Mirza ; M. C. Benton ; U. Broeckel ; S. E. Medland ; P. A. Lind ; G. Malerba ; A. Drong ; L. Yengo ; L. F. Bielak ; D. Zhi ; P. J. van der Most ; D. Shriner ; R. Magi ; G. Hemani ; T. Karaderi ; Z. Wang ; T. Liu ; I. Demuth ; J. H. Zhao ; W. Meng ; L. Lataniotis ; S. W. van der Laan ; J. P. Bradfield ; A. R. Wood ; A. Bonnefond ; T. S. Ahluwalia ; L. M. Hall ; E. Salvi ; S. Yazar ; L. Carstensen ; H. G. de Haan ; M. Abney ; U. Afzal ; M. A. Allison ; N. Amin ; F. W. Asselbergs ; S. J. Bakker ; R. G. Barr ; S. E. Baumeister ; D. J. Benjamin ; S. Bergmann ; E. Boerwinkle ; E. P. Bottinger ; A. Campbell ; A. Chakravarti ; Y. Chan ; S. J. Chanock ; C. Chen ; Y. D. Chen ; F. S. Collins ; J. Connell ; A. Correa ; L. A. Cupples ; G. D. Smith ; G. Davies ; M. Dorr ; G. Ehret ; S. B. Ellis ; B. Feenstra ; M. F. Feitosa ; I. Ford ; C. S. Fox ; T. M. Frayling ; N. Friedrich ; F. Geller ; G. Scotland ; I. Gillham-Nasenya ; O. Gottesman ; M. Graff ; F. Grodstein ; C. Gu ; C. Haley ; C. J. Hammond ; S. E. Harris ; T. B. Harris ; N. D. Hastie ; N. L. Heard-Costa ; K. Heikkila ; L. J. Hocking ; G. Homuth ; J. J. Hottenga ; J. Huang ; J. E. Huffman ; P. G. Hysi ; M. A. Ikram ; E. Ingelsson ; A. Joensuu ; A. Johansson ; P. Jousilahti ; J. W. Jukema ; M. Kahonen ; Y. Kamatani ; S. Kanoni ; S. M. Kerr ; N. M. Khan ; P. Koellinger ; H. A. Koistinen ; M. K. Kooner ; M. Kubo ; J. Kuusisto ; J. Lahti ; L. J. Launer ; R. A. Lea ; B. Lehne ; T. Lehtimaki ; D. C. Liewald ; L. Lind ; M. Loh ; M. L. Lokki ; S. J. London ; S. J. Loomis ; A. Loukola ; Y. Lu ; T. Lumley ; A. Lundqvist ; S. Mannisto ; P. Marques-Vidal ; C. Masciullo ; A. Matchan ; R. A. Mathias ; K. Matsuda ; J. B. Meigs ; C. Meisinger ; T. Meitinger ; C. Menni ; F. D. Mentch ; E. Mihailov ; L. Milani ; M. E. Montasser ; G. W. Montgomery ; A. Morrison ; R. H. Myers ; R. Nadukuru ; P. Navarro ; M. Nelis ; M. S. Nieminen ; I. M. Nolte ; G. T. O'Connor ; A. Ogunniyi ; S. Padmanabhan ; W. R. Palmas ; J. S. Pankow ; I. Patarcic ; F. Pavani ; P. A. Peyser ; K. Pietilainen ; N. Poulter ; I. Prokopenko ; S. Ralhan ; P. Redmond ; S. S. Rich ; H. Rissanen ; A. Robino ; L. M. Rose ; R. Rose ; C. Sala ; B. Salako ; V. Salomaa ; A. P. Sarin ; R. Saxena ; H. Schmidt ; L. J. Scott ; W. R. Scott ; B. Sennblad ; S. Seshadri ; P. Sever ; S. Shrestha ; B. H. Smith ; J. A. Smith ; N. Soranzo ; N. Sotoodehnia ; L. Southam ; A. V. Stanton ; M. G. Stathopoulou ; K. Strauch ; R. J. Strawbridge ; M. J. Suderman ; N. Tandon ; S. T. Tang ; K. D. Taylor ; B. O. Tayo ; A. M. Toglhofer ; M. Tomaszewski ; N. Tsernikova ; J. Tuomilehto ; A. G. Uitterlinden ; D. Vaidya ; A. van Hylckama Vlieg ; J. van Setten ; T. Vasankari ; S. Vedantam ; E. Vlachopoulou ; D. Vozzi ; E. Vuoksimaa ; M. Waldenberger ; E. B. Ware ; W. Wentworth-Shields ; J. B. Whitfield ; S. Wild ; G. Willemsen ; C. S. Yajnik ; J. Yao ; G. Zaza ; X. Zhu ; R. M. Salem ; M. Melbye ; H. Bisgaard ; N. J. Samani ; D. Cusi ; D. A. Mackey ; R. S. Cooper ; P. Froguel ; G. Pasterkamp ; S. F. Grant ; H. Hakonarson ; L. Ferrucci ; R. A. Scott ; A. D. Morris ; C. N. Palmer ; G. Dedoussis ; P. Deloukas ; L. Bertram ; U. Lindenberger ; S. I. Berndt ; C. M. Lindgren ; N. J. Timpson ; A. Tonjes ; P. B. Munroe ; T. I. Sorensen ; C. N. Rotimi ; D. K. Arnett ; A. J. Oldehinkel ; S. L. Kardia ; B. Balkau ; G. Gambaro ; A. P. Morris ; J. G. Eriksson ; M. J. Wright ; N. G. Martin ; S. C. Hunt ; J. M. Starr ; I. J. Deary ; L. R. Griffiths ; H. Tiemeier ; N. Pirastu ; J. Kaprio ; N. J. Wareham ; L. Perusse ; J. G. Wilson ; G. Girotto ; M. J. Caulfield ; O. Raitakari ; D. I. Boomsma ; C. Gieger ; P. van der Harst ; A. A. Hicks ; P. Kraft ; J. Sinisalo ; P. Knekt ; M. Johannesson ; P. K. Magnusson ; A. Hamsten ; R. Schmidt ; I. B. Borecki ; E. Vartiainen ; D. M. Becker ; D. Bharadwaj ; K. L. Mohlke ; M. Boehnke ; C. M. van Duijn ; D. K. Sanghera ; A. Teumer ; E. Zeggini ; A. Metspalu ; P. Gasparini ; S. Ulivi ; C. Ober ; D. Toniolo ; I. Rudan ; D. J. Porteous ; M. Ciullo ; T. D. Spector ; C. Hayward ; J. Dupuis ; R. J. Loos ; A. F. Wright ; G. R. Chandak ; P. Vollenweider ; A. R. Shuldiner ; P. M. Ridker ; J. I. Rotter ; N. Sattar ; U. Gyllensten ; K. E. North ; M. Pirastu ; B. M. Psaty ; D. R. Weir ; M. Laakso ; V. Gudnason ; A. Takahashi ; J. C. Chambers ; J. S. Kooner ; D. P. Strachan ; H. Campbell ; J. N. Hirschhorn ; M. Perola ; O. Polasek ; J. F. Wilson
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    2015-07-02
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    Topics:
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    Keywords:
    Biological Evolution ; Blood Pressure/genetics ; Body Height/*genetics ; Cholesterol, LDL/genetics ; *Cognition ; Cohort Studies ; Educational Status ; Female ; Forced Expiratory Volume/genetics ; Genome, Human/genetics ; *Homozygote ; Humans ; Lung Volume Measurements ; Male ; Phenotype
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  2. 2
    A. Okbay ; J. P. Beauchamp ; M. A. Fontana ; J. J. Lee ; T. H. Pers ; C. A. Rietveld ; P. Turley ; G. B. Chen ; V. Emilsson ; S. F. Meddens ; S. Oskarsson ; J. K. Pickrell ; K. Thom ; P. Timshel ; R. de Vlaming ; A. Abdellaoui ; T. S. Ahluwalia ; J. Bacelis ; C. Baumbach ; G. Bjornsdottir ; J. H. Brandsma ; M. Pina Concas ; J. Derringer ; N. A. Furlotte ; T. E. Galesloot ; G. Girotto ; R. Gupta ; L. M. Hall ; S. E. Harris ; E. Hofer ; M. Horikoshi ; J. E. Huffman ; K. Kaasik ; I. P. Kalafati ; R. Karlsson ; A. Kong ; J. Lahti ; S. J. van der Lee ; C. deLeeuw ; P. A. Lind ; K. O. Lindgren ; T. Liu ; M. Mangino ; J. Marten ; E. Mihailov ; M. B. Miller ; P. J. van der Most ; C. Oldmeadow ; A. Payton ; N. Pervjakova ; W. J. Peyrot ; Y. Qian ; O. Raitakari ; R. Rueedi ; E. Salvi ; B. Schmidt ; K. E. Schraut ; J. Shi ; A. V. Smith ; R. A. Poot ; B. St Pourcain ; A. Teumer ; G. Thorleifsson ; N. Verweij ; D. Vuckovic ; J. Wellmann ; H. J. Westra ; J. Yang ; W. Zhao ; Z. Zhu ; B. Z. Alizadeh ; N. Amin ; A. Bakshi ; S. E. Baumeister ; G. Biino ; K. Bonnelykke ; P. A. Boyle ; H. Campbell ; F. P. Cappuccio ; G. Davies ; J. E. De Neve ; P. Deloukas ; I. Demuth ; J. Ding ; P. Eibich ; L. Eisele ; N. Eklund ; D. M. Evans ; J. D. Faul ; M. F. Feitosa ; A. J. Forstner ; I. Gandin ; B. Gunnarsson ; B. V. Halldorsson ; T. B. Harris ; A. C. Heath ; L. J. Hocking ; E. G. Holliday ; G. Homuth ; M. A. Horan ; J. J. Hottenga ; P. L. de Jager ; P. K. Joshi ; A. Jugessur ; M. A. Kaakinen ; M. Kahonen ; S. Kanoni ; L. Keltigangas-Jarvinen ; L. A. Kiemeney ; I. Kolcic ; S. Koskinen ; A. T. Kraja ; M. Kroh ; Z. Kutalik ; A. Latvala ; L. J. Launer ; M. P. Lebreton ; D. F. Levinson ; P. Lichtenstein ; P. Lichtner ; D. C. Liewald ; A. Loukola ; P. A. Madden ; R. Magi ; T. Maki-Opas ; R. E. Marioni ; P. Marques-Vidal ; G. A. Meddens ; G. McMahon ; C. Meisinger ; T. Meitinger ; Y. Milaneschi ; L. Milani ; G. W. Montgomery ; R. Myhre ; C. P. Nelson ; D. R. Nyholt ; W. E. Ollier ; A. Palotie ; L. Paternoster ; N. L. Pedersen ; K. E. Petrovic ; D. J. Porteous ; K. Raikkonen ; S. M. Ring ; A. Robino ; O. Rostapshova ; I. Rudan ; A. Rustichini ; V. Salomaa ; A. R. Sanders ; A. P. Sarin ; H. Schmidt ; R. J. Scott ; B. H. Smith ; J. A. Smith ; J. A. Staessen ; E. Steinhagen-Thiessen ; K. Strauch ; A. Terracciano ; M. D. Tobin ; S. Ulivi ; S. Vaccargiu ; L. Quaye ; F. J. van Rooij ; C. Venturini ; A. A. Vinkhuyzen ; U. Volker ; H. Volzke ; J. M. Vonk ; D. Vozzi ; J. Waage ; E. B. Ware ; G. Willemsen ; J. R. Attia ; D. A. Bennett ; K. Berger ; L. Bertram ; H. Bisgaard ; D. I. Boomsma ; I. B. Borecki ; U. Bultmann ; C. F. Chabris ; F. Cucca ; D. Cusi ; I. J. Deary ; G. V. Dedoussis ; C. M. van Duijn ; J. G. Eriksson ; B. Franke ; L. Franke ; P. Gasparini ; P. V. Gejman ; C. Gieger ; H. J. Grabe ; J. Gratten ; P. J. Groenen ; V. Gudnason ; P. van der Harst ; C. Hayward ; D. A. Hinds ; W. Hoffmann ; E. Hypponen ; W. G. Iacono ; B. Jacobsson ; M. R. Jarvelin ; K. H. Jockel ; J. Kaprio ; S. L. Kardia ; T. Lehtimaki ; S. F. Lehrer ; P. K. Magnusson ; N. G. Martin ; M. McGue ; A. Metspalu ; N. Pendleton ; B. W. Penninx ; M. Perola ; N. Pirastu ; M. Pirastu ; O. Polasek ; D. Posthuma ; C. Power ; M. A. Province ; N. J. Samani ; D. Schlessinger ; R. Schmidt ; T. I. Sorensen ; T. D. Spector ; K. Stefansson ; U. Thorsteinsdottir ; A. R. Thurik ; N. J. Timpson ; H. Tiemeier ; J. Y. Tung ; A. G. Uitterlinden ; V. Vitart ; P. Vollenweider ; D. R. Weir ; J. F. Wilson ; A. F. Wright ; D. C. Conley ; R. F. Krueger ; G. Davey Smith ; A. Hofman ; D. I. Laibson ; S. E. Medland ; M. N. Meyer ; M. Johannesson ; P. M. Visscher ; T. Esko ; P. D. Koellinger ; D. Cesarini ; D. J. Benjamin
    Nature Publishing Group (NPG)
    Published 2016
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    Publication Date:
    2016-05-27
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    Print ISSN:
    0028-0836
    Electronic ISSN:
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    Topics:
    Biology
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    Natural Sciences in General
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  3. 3
    C. Gieger ; A. Radhakrishnan ; A. Cvejic ; W. Tang ; E. Porcu ; G. Pistis ; J. Serbanovic-Canic ; U. Elling ; A. H. Goodall ; Y. Labrune ; L. M. Lopez ; R. Magi ; S. Meacham ; Y. Okada ; N. Pirastu ; R. Sorice ; A. Teumer ; K. Voss ; W. Zhang ; R. Ramirez-Solis ; J. C. Bis ; D. Ellinghaus ; M. Gogele ; J. J. Hottenga ; C. Langenberg ; P. Kovacs ; P. F. O'Reilly ; S. Y. Shin ; T. Esko ; J. Hartiala ; S. Kanoni ; F. Murgia ; A. Parsa ; J. Stephens ; P. van der Harst ; C. Ellen van der Schoot ; H. Allayee ; A. Attwood ; B. Balkau ; F. Bastardot ; S. Basu ; S. E. Baumeister ; G. Biino ; L. Bomba ; A. Bonnefond ; F. Cambien ; J. C. Chambers ; F. Cucca ; P. D'Adamo ; G. Davies ; R. A. de Boer ; E. J. de Geus ; A. Doring ; P. Elliott ; J. Erdmann ; D. M. Evans ; M. Falchi ; W. Feng ; A. R. Folsom ; I. H. Frazer ; Q. D. Gibson ; N. L. Glazer ; C. Hammond ; A. L. Hartikainen ; S. R. Heckbert ; C. Hengstenberg ; M. Hersch ; T. Illig ; R. J. Loos ; J. Jolley ; K. T. Khaw ; B. Kuhnel ; M. C. Kyrtsonis ; V. Lagou ; H. Lloyd-Jones ; T. Lumley ; M. Mangino ; A. Maschio ; I. Mateo Leach ; B. McKnight ; Y. Memari ; B. D. Mitchell ; G. W. Montgomery ; Y. Nakamura ; M. Nauck ; G. Navis ; U. Nothlings ; I. M. Nolte ; D. J. Porteous ; A. Pouta ; P. P. Pramstaller ; J. Pullat ; S. M. Ring ; J. I. Rotter ; D. Ruggiero ; A. Ruokonen ; C. Sala ; N. J. Samani ; J. Sambrook ; D. Schlessinger ; S. Schreiber ; H. Schunkert ; J. Scott ; N. L. Smith ; H. Snieder ; J. M. Starr ; M. Stumvoll ; A. Takahashi ; W. H. Tang ; K. Taylor ; A. Tenesa ; S. Lay Thein ; A. Tonjes ; M. Uda ; S. Ulivi ; D. J. van Veldhuisen ; P. M. Visscher ; U. Volker ; H. E. Wichmann ; K. L. Wiggins ; G. Willemsen ; T. P. Yang ; J. Hua Zhao ; P. Zitting ; J. R. Bradley ; G. V. Dedoussis ; P. Gasparini ; S. L. Hazen ; A. Metspalu ; M. Pirastu ; A. R. Shuldiner ; L. Joost van Pelt ; J. J. Zwaginga ; D. I. Boomsma ; I. J. Deary ; A. Franke ; P. Froguel ; S. K. Ganesh ; M. R. Jarvelin ; N. G. Martin ; C. Meisinger ; B. M. Psaty ; T. D. Spector ; N. J. Wareham ; J. W. Akkerman ; M. Ciullo ; P. Deloukas ; A. Greinacher ; S. Jupe ; N. Kamatani ; J. Khadake ; J. S. Kooner ; J. Penninger ; I. Prokopenko ; D. Stemple ; D. Toniolo ; L. Wernisch ; S. Sanna ; A. A. Hicks ; A. Rendon ; M. A. Ferreira ; W. H. Ouwehand ; N. Soranzo
    Nature Publishing Group (NPG)
    Published 2011
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    Publication Date:
    2011-12-06
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    Topics:
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    Keywords:
    Animals ; Blood Platelets/*cytology/metabolism ; Cell Size ; Drosophila Proteins/genetics ; Drosophila melanogaster/genetics ; Europe ; Gene Expression Profiling ; Gene Silencing ; Genome, Human/genetics ; Genome-Wide Association Study ; Hematopoiesis/*genetics ; Humans ; Megakaryocytes/*cytology/metabolism ; Platelet Count ; Protein Interaction Maps ; Transcription, Genetic/genetics ; Zebrafish/genetics ; Zebrafish Proteins/genetics
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  4. 4
    P. van der Harst ; W. Zhang ; I. Mateo Leach ; A. Rendon ; N. Verweij ; J. Sehmi ; D. S. Paul ; U. Elling ; H. Allayee ; X. Li ; A. Radhakrishnan ; S. T. Tan ; K. Voss ; C. X. Weichenberger ; C. A. Albers ; A. Al-Hussani ; F. W. Asselbergs ; M. Ciullo ; F. Danjou ; C. Dina ; T. Esko ; D. M. Evans ; L. Franke ; M. Gogele ; J. Hartiala ; M. Hersch ; H. Holm ; J. J. Hottenga ; S. Kanoni ; M. E. Kleber ; V. Lagou ; C. Langenberg ; L. M. Lopez ; L. P. Lyytikainen ; O. Melander ; F. Murgia ; I. M. Nolte ; P. F. O'Reilly ; S. Padmanabhan ; A. Parsa ; N. Pirastu ; E. Porcu ; L. Portas ; I. Prokopenko ; J. S. Ried ; S. Y. Shin ; C. S. Tang ; A. Teumer ; M. Traglia ; S. Ulivi ; H. J. Westra ; J. Yang ; J. H. Zhao ; F. Anni ; A. Abdellaoui ; A. Attwood ; B. Balkau ; S. Bandinelli ; F. Bastardot ; B. Benyamin ; B. O. Boehm ; W. O. Cookson ; D. Das ; P. I. de Bakker ; R. A. de Boer ; E. J. de Geus ; M. H. de Moor ; M. Dimitriou ; F. S. Domingues ; A. Doring ; G. Engstrom ; G. I. Eyjolfsson ; L. Ferrucci ; K. Fischer ; R. Galanello ; S. F. Garner ; B. Genser ; Q. D. Gibson ; G. Girotto ; D. F. Gudbjartsson ; S. E. Harris ; A. L. Hartikainen ; C. E. Hastie ; B. Hedblad ; T. Illig ; J. Jolley ; M. Kahonen ; I. P. Kema ; J. P. Kemp ; L. Liang ; H. Lloyd-Jones ; R. J. Loos ; S. Meacham ; S. E. Medland ; C. Meisinger ; Y. Memari ; E. Mihailov ; K. Miller ; M. F. Moffatt ; M. Nauck ; M. Novatchkova ; T. Nutile ; I. Olafsson ; P. T. Onundarson ; D. Parracciani ; B. W. Penninx ; L. Perseu ; A. Piga ; G. Pistis ; A. Pouta ; U. Puc ; O. Raitakari ; S. M. Ring ; A. Robino ; D. Ruggiero ; A. Ruokonen ; A. Saint-Pierre ; C. Sala ; A. Salumets ; J. Sambrook ; H. Schepers ; C. O. Schmidt ; H. H. Sillje ; R. Sladek ; J. H. Smit ; J. M. Starr ; J. Stephens ; P. Sulem ; T. Tanaka ; U. Thorsteinsdottir ; V. Tragante ; W. H. van Gilst ; L. J. van Pelt ; D. J. van Veldhuisen ; U. Volker ; J. B. Whitfield ; G. Willemsen ; B. R. Winkelmann ; G. Wirnsberger ; A. Algra ; F. Cucca ; A. P. d'Adamo ; J. Danesh ; I. J. Deary ; A. F. Dominiczak ; P. Elliott ; P. Fortina ; P. Froguel ; P. Gasparini ; A. Greinacher ; S. L. Hazen ; M. R. Jarvelin ; K. T. Khaw ; T. Lehtimaki ; W. Maerz ; N. G. Martin ; A. Metspalu ; B. D. Mitchell ; G. W. Montgomery ; C. Moore ; G. Navis ; M. Pirastu ; P. P. Pramstaller ; R. Ramirez-Solis ; E. Schadt ; J. Scott ; A. R. Shuldiner ; G. D. Smith ; J. G. Smith ; H. Snieder ; R. Sorice ; T. D. Spector ; K. Stefansson ; M. Stumvoll ; W. H. Tang ; D. Toniolo ; A. Tonjes ; P. M. Visscher ; P. Vollenweider ; N. J. Wareham ; B. H. Wolffenbuttel ; D. I. Boomsma ; J. S. Beckmann ; G. V. Dedoussis ; P. Deloukas ; M. A. Ferreira ; S. Sanna ; M. Uda ; A. A. Hicks ; J. M. Penninger ; C. Gieger ; J. S. Kooner ; W. H. Ouwehand ; N. Soranzo ; J. C. Chambers
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    Published 2012
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    Publication Date:
    2012-12-12
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    0028-0836
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    Topics:
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    Chemistry and Pharmacology
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    Natural Sciences in General
    Physics
    Keywords:
    Animals ; Cell Cycle/genetics ; Cytokines/metabolism ; Drosophila melanogaster/genetics ; Erythrocytes/cytology/*metabolism ; Female ; Gene Expression Regulation/genetics ; *Genetic Loci ; *Genome-Wide Association Study ; Hematopoiesis/genetics ; Hemoglobins/genetics ; Humans ; Male ; Mice ; Organ Specificity ; *Phenotype ; Polymorphism, Single Nucleotide/genetics ; RNA Interference ; Signal Transduction/genetics
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  5. 5
    PIRASTU, M. ; RISTALDI, M. S. ; LOUDIANOS, G. ; MURRU, S. ; SCIARRATTA, G. V. ; PARODI, M. I. ; LEONE, D. ; AGOSTI, S. ; CAO, A.

    Oxford, UK : Blackwell Publishing Ltd
    Published 1990
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    ISSN:
    1749-6632
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
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    Natural Sciences in General
    Type of Medium:
    Electronic Resource
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    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    1546-1718
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Medicine
    Notes:
    [Auszug] Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype ...
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    Electronic Resource
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    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    1546-1718
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Medicine
    Notes:
    [Auszug] Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker ...
    Type of Medium:
    Electronic Resource
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    Articles: DFG German National Licenses
  8. 8
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  9. 9
    Murru, S. ; Casula, L. ; Pecorara, M. ; Mori, P. ; Cao, A. ; Pirastu, M.

    Amsterdam : Elsevier
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    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
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    Articles: DFG German National Licenses
  10. 10
    CAO, A. ; COSSU, P. ; FALCHI, A. M. ; MONNI, G. ; PIRASTU, M. ; ROSATELLI, C. ; SCALAS, M. T. ; TUVERI, T.

    Oxford, UK : Blackwell Publishing Ltd
    Published 1985
    Staff View
    ISSN:
    1749-6632
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Natural Sciences in General
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary We have determined the spectrum of mutations producing β-thalassemia (β-thal) in Tunisia by direct DNA analysis using hybridization with allele-specific oligonucleotide probes and restriction endonuclease assay. In all, 34 unrelated β-thal patients originating from different parts of the country were available for study. The β-globin gene cluster of each was subjected to haplotype analysis, and on the basis of this analysis, we tested each patient's DNA for one or more mutations previously shown to be linked to that haplotype. We identified four previously unreported haplotypes and found that this population differs from others in Mediterranean areas in the frequency of the β-thal haplotypes, the unexpected observation being the high frequency of haplotype IX. Six different point mutations were found, accounting for 62% of β-thal genes in this Tunisian population. The molecular defects known to be the most frequent in Mediterraneans (nonsense codon 39, IVS1 nt 110, IVS1 nt 6) only make up 37% of the mutant genes. One as yet undescribed mutation (IVS1 nt 2 T → G) was identified by molecular cloning and sequencing. Our results should help the implementation of a prenatal diagnosis program for β-thal in Tunisia.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Key words Wilson disease ; Molecular pathology ; Neurological features
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We describe a patient with Wilson disease who presented at 11 years of age with neurological symptoms and subsequent rapid progression of neurological impairment but absent hepatic manifestations. Molecular analysis showed compound heterozygosity for two frameshift mutations, 2299insC and 214delAT, which most likely result in an absent or inactive protein product. Mutation-phenotypic analysis indicates that this genotype does not explain the severe phenotype, suggesting the presence of modifying factors. Conclusion Wilson disease may present even in childhood or adolescence with neurological abnormalities in the absence of hepatic manifestations.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  13. 13
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary A survey of hemoglobinopathies in northern Sardinia revealed a high frequency (0.3%) of carriers of a hematologic condition characterized by increased expression of fetal hemoglobin during adult life (hereditary persistence of fetal hemoglobin or HPFH). In spite of a normal hematologic phenotype, the heterozygous carriers for this condition display about 12% HbF, almost exclusively of the Aγ type; compound heterozygotes with β-thalassemia have 20%–26% HbF and run a very mild clinical course. The sequence analysis of the cloned Aγ gene linked to the HPFH determinant revealed the presence of a G→A substitution at position-117 of the Aγ- gene promoter; the same mutation occurs also in Greek HPFH, although associated with different restriction polymorphisms. Another hereditary condition characterized by increased HbF (α2 Aγ2) level and a mild thalassemic phenotype in Sardinia is associated with the-196 C→T substitution in the Aγ-globin gene promoter (Sardinian δβ-thalassemia). Population studies using oligonucleotides complementary both to the-117 G→A and-196 C→T mutations and the corresponding normal sequences confirm the presence of these mutations only in HPFH and δβ-thalassemia chromosomes and exclude these changes being common DNA polymorphisms.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  14. 14
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary In this study we have carried out haplotype analysis on the β-globin gene cluster and characterized the β-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/β-thalassemia originating from southern Portugal. We found that three mutations, namely the β°-39, β° IVS-1 nt 1 and β+ IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the β-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the β° mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  15. 15
    Staff View
    ISSN:
    1433-0350
    Keywords:
    Neurofibromatosis ; Genetic linkage ; DNA markers
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  16. 16
    Staff View
    ISSN:
    1618-2650
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Chemistry and Pharmacology
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses