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Chambers ; J. S. Kooner ; D. P. Strachan ; H. Campbell ; J. N. Hirschhorn ; M. Perola ; O. Polasek ; J. F. Wilson
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2G. B. Ehret ; P. B. Munroe ; K. M. Rice ; M. Bochud ; A. D. Johnson ; D. I. Chasman ; A. V. Smith ; M. D. Tobin ; G. C. Verwoert ; S. J. Hwang ; V. Pihur ; P. Vollenweider ; P. F. O'Reilly ; N. Amin ; J. L. Bragg-Gresham ; A. Teumer ; N. L. Glazer ; L. Launer ; J. H. Zhao ; Y. Aulchenko ; S. Heath ; S. Sober ; A. Parsa ; J. Luan ; P. Arora ; A. Dehghan ; F. Zhang ; G. Lucas ; A. A. Hicks ; A. U. Jackson ; J. F. Peden ; T. Tanaka ; S. H. Wild ; I. Rudan ; W. Igl ; Y. Milaneschi ; A. N. Parker ; C. Fava ; J. C. Chambers ; E. R. Fox ; M. Kumari ; M. J. Go ; P. van der Harst ; W. H. Kao ; M. Sjogren ; D. G. Vinay ; M. Alexander ; Y. Tabara ; S. Shaw-Hawkins ; P. H. Whincup ; Y. Liu ; G. Shi ; J. Kuusisto ; B. Tayo ; M. Seielstad ; X. Sim ; K. D. Nguyen ; T. Lehtimaki ; G. Matullo ; Y. Wu ; T. R. Gaunt ; N. C. Onland-Moret ; M. N. Cooper ; C. G. Platou ; E. Org ; R. Hardy ; S. Dahgam ; J. Palmen ; V. Vitart ; P. S. Braund ; T. Kuznetsova ; C. S. Uiterwaal ; A. Adeyemo ; W. Palmas ; H. Campbell ; B. Ludwig ; M. Tomaszewski ; I. Tzoulaki ; N. D. Palmer ; T. Aspelund ; M. Garcia ; Y. P. Chang ; J. R. O'Connell ; N. I. Steinle ; D. E. Grobbee ; D. E. Arking ; S. L. Kardia ; A. C. Morrison ; D. Hernandez ; S. Najjar ; W. L. McArdle ; D. Hadley ; M. J. Brown ; J. M. Connell ; A. D. Hingorani ; I. N. Day ; D. A. Lawlor ; J. P. Beilby ; R. W. Lawrence ; R. Clarke ; J. C. Hopewell ; H. Ongen ; A. W. Dreisbach ; Y. Li ; J. H. Young ; J. C. Bis ; M. Kahonen ; J. Viikari ; L. S. Adair ; N. R. Lee ; M. H. Chen ; M. Olden ; C. Pattaro ; J. A. Bolton ; A. Kottgen ; S. Bergmann ; V. Mooser ; N. Chaturvedi ; T. M. Frayling ; M. Islam ; T. H. Jafar ; J. Erdmann ; S. R. Kulkarni ; S. R. Bornstein ; J. Grassler ; L. Groop ; B. F. Voight ; J. Kettunen ; P. Howard ; A. Taylor ; S. Guarrera ; F. Ricceri ; V. Emilsson ; A. Plump ; I. Barroso ; K. T. Khaw ; A. B. Weder ; S. C. Hunt ; Y. V. Sun ; R. N. Bergman ; F. S. Collins ; L. L. Bonnycastle ; L. J. Scott ; H. M. Stringham ; L. Peltonen ; M. Perola ; E. Vartiainen ; S. M. Brand ; J. A. Staessen ; T. J. Wang ; P. R. Burton ; M. Soler Artigas ; Y. Dong ; H. Snieder ; X. Wang ; H. Zhu ; K. K. Lohman ; M. E. Rudock ; S. R. Heckbert ; N. L. Smith ; K. L. Wiggins ; A. Doumatey ; D. Shriner ; G. Veldre ; M. Viigimaa ; S. Kinra ; D. Prabhakaran ; V. Tripathy ; C. D. Langefeld ; A. Rosengren ; D. S. Thelle ; A. M. Corsi ; A. Singleton ; T. Forrester ; G. Hilton ; C. A. McKenzie ; T. Salako ; N. Iwai ; Y. Kita ; T. Ogihara ; T. Ohkubo ; T. Okamura ; H. Ueshima ; S. Umemura ; S. Eyheramendy ; T. Meitinger ; H. E. Wichmann ; Y. S. Cho ; H. L. Kim ; J. Y. Lee ; J. Scott ; J. S. Sehmi ; W. Zhang ; B. Hedblad ; P. Nilsson ; G. D. Smith ; A. Wong ; N. Narisu ; A. Stancakova ; L. J. Raffel ; J. Yao ; S. Kathiresan ; C. J. O'Donnell ; S. M. Schwartz ; M. A. Ikram ; W. T. Longstreth, Jr. ; T. H. Mosley ; S. Seshadri ; N. R. Shrine ; L. V. Wain ; M. A. Morken ; A. J. Swift ; J. Laitinen ; I. Prokopenko ; P. Zitting ; J. A. Cooper ; S. E. Humphries ; J. Danesh ; A. Rasheed ; A. Goel ; A. Hamsten ; H. Watkins ; S. J. Bakker ; W. H. van Gilst ; C. S. Janipalli ; K. R. Mani ; C. S. Yajnik ; A. Hofman ; F. U. Mattace-Raso ; B. A. Oostra ; A. Demirkan ; A. Isaacs ; F. Rivadeneira ; E. G. Lakatta ; M. Orru ; A. Scuteri ; M. Ala-Korpela ; A. J. Kangas ; L. P. Lyytikainen ; P. Soininen ; T. Tukiainen ; P. Wurtz ; R. T. Ong ; M. Dorr ; H. K. Kroemer ; U. Volker ; H. Volzke ; P. Galan ; S. Hercberg ; M. Lathrop ; D. Zelenika ; P. Deloukas ; M. Mangino ; T. D. Spector ; G. Zhai ; J. F. Meschia ; M. A. Nalls ; P. Sharma ; J. Terzic ; M. V. Kumar ; M. Denniff ; E. Zukowska-Szczechowska ; L. E. Wagenknecht ; F. G. Fowkes ; F. J. Charchar ; P. E. Schwarz ; C. Hayward ; X. Guo ; C. Rotimi ; M. L. Bots ; E. Brand ; N. J. Samani ; O. Polasek ; P. J. Talmud ; F. Nyberg ; D. Kuh ; M. Laan ; K. Hveem ; L. J. Palmer ; Y. T. van der Schouw ; J. P. Casas ; K. L. Mohlke ; P. Vineis ; O. Raitakari ; S. K. Ganesh ; T. Y. Wong ; E. S. Tai ; R. S. Cooper ; M. Laakso ; D. C. Rao ; T. B. Harris ; R. W. Morris ; A. F. Dominiczak ; M. Kivimaki ; M. G. Marmot ; T. Miki ; D. Saleheen ; G. R. Chandak ; J. Coresh ; G. Navis ; V. Salomaa ; B. G. Han ; X. Zhu ; J. S. Kooner ; O. Melander ; P. M. Ridker ; S. Bandinelli ; U. B. Gyllensten ; A. F. Wright ; J. F. Wilson ; L. Ferrucci ; M. Farrall ; J. Tuomilehto ; P. P. Pramstaller ; R. Elosua ; N. Soranzo ; E. J. Sijbrands ; D. Altshuler ; R. J. Loos ; A. R. Shuldiner ; C. Gieger ; P. Meneton ; A. G. Uitterlinden ; N. J. Wareham ; V. Gudnason ; J. I. Rotter ; R. Rettig ; M. Uda ; D. P. Strachan ; J. C. Witteman ; A. L. Hartikainen ; J. S. Beckmann ; E. Boerwinkle ; R. S. Vasan ; M. Boehnke ; M. G. Larson ; M. R. Jarvelin ; B. M. Psaty ; G. R. Abecasis ; A. Chakravarti ; P. Elliott ; C. M. van Duijn ; C. Newton-Cheh ; D. Levy ; M. J. Caulfield ; T. Johnson
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Published 2011Staff ViewPublication Date: 2011-09-13Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Africa/ethnology ; Asia/ethnology ; Blood Pressure/*genetics/physiology ; Cardiovascular Diseases/*genetics ; Coronary Artery Disease/genetics ; Europe/ethnology ; Genetic Predisposition to Disease/*genetics ; Genome-Wide Association Study ; Humans ; Hypertension/genetics ; Kidney Diseases/genetics ; Polymorphism, Single Nucleotide/*genetics ; Stroke/geneticsPublished by: -
3A. 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
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Published 2016Staff ViewPublication Date: 2016-05-27Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsPublished by: -
4S. Jacquemont ; A. Reymond ; F. Zufferey ; L. Harewood ; R. G. Walters ; Z. Kutalik ; D. Martinet ; Y. Shen ; A. Valsesia ; N. D. Beckmann ; G. Thorleifsson ; M. Belfiore ; S. Bouquillon ; D. Campion ; N. de Leeuw ; B. B. de Vries ; T. Esko ; B. A. Fernandez ; F. Fernandez-Aranda ; J. M. Fernandez-Real ; M. Gratacos ; A. Guilmatre ; J. Hoyer ; M. R. Jarvelin ; R. F. Kooy ; A. Kurg ; C. Le Caignec ; K. Mannik ; O. S. Platt ; D. Sanlaville ; M. M. Van Haelst ; S. Villatoro Gomez ; F. Walha ; B. L. Wu ; Y. Yu ; A. Aboura ; M. C. Addor ; Y. Alembik ; S. E. Antonarakis ; B. Arveiler ; M. Barth ; N. Bednarek ; F. Bena ; S. Bergmann ; M. Beri ; L. Bernardini ; B. Blaumeiser ; D. Bonneau ; A. Bottani ; O. Boute ; H. G. Brunner ; D. Cailley ; P. Callier ; J. Chiesa ; J. Chrast ; L. Coin ; C. Coutton ; J. M. Cuisset ; J. C. Cuvellier ; A. David ; B. de Freminville ; B. Delobel ; M. A. Delrue ; B. Demeer ; D. Descamps ; G. Didelot ; K. Dieterich ; V. Disciglio ; M. Doco-Fenzy ; S. Drunat ; B. Duban-Bedu ; C. Dubourg ; J. S. El-Sayed Moustafa ; P. Elliott ; B. H. Faas ; L. Faivre ; A. Faudet ; F. Fellmann ; A. Ferrarini ; R. Fisher ; E. Flori ; L. Forer ; D. Gaillard ; M. Gerard ; C. Gieger ; S. Gimelli ; G. Gimelli ; H. J. Grabe ; A. Guichet ; O. Guillin ; A. L. Hartikainen ; D. Heron ; L. Hippolyte ; M. Holder ; G. Homuth ; B. Isidor ; S. Jaillard ; Z. Jaros ; S. Jimenez-Murcia ; G. J. Helas ; P. Jonveaux ; S. Kaksonen ; B. Keren ; A. Kloss-Brandstatter ; N. V. Knoers ; D. A. Koolen ; P. M. Kroisel ; F. Kronenberg ; A. Labalme ; E. Landais ; E. Lapi ; V. Layet ; S. Legallic ; B. Leheup ; B. Leube ; S. Lewis ; J. Lucas ; K. D. MacDermot ; P. Magnusson ; C. Marshall ; M. Mathieu-Dramard ; M. I. McCarthy ; T. Meitinger ; M. A. Mencarelli ; G. Merla ; A. Moerman ; V. Mooser ; F. Morice-Picard ; M. Mucciolo ; M. Nauck ; N. C. Ndiaye ; A. Nordgren ; L. Pasquier ; F. Petit ; R. Pfundt ; G. Plessis ; E. Rajcan-Separovic ; G. P. Ramelli ; A. Rauch ; R. Ravazzolo ; A. Reis ; A. Renieri ; C. Richart ; J. S. Ried ; C. Rieubland ; W. Roberts ; K. M. Roetzer ; C. Rooryck ; M. Rossi ; E. Saemundsen ; V. Satre ; C. Schurmann ; E. Sigurdsson ; D. J. Stavropoulos ; H. Stefansson ; C. Tengstrom ; U. Thorsteinsdottir ; F. J. Tinahones ; R. Touraine ; L. Vallee ; E. van Binsbergen ; N. Van der Aa ; C. Vincent-Delorme ; S. Visvikis-Siest ; P. Vollenweider ; H. Volzke ; A. T. Vulto-van Silfhout ; G. Waeber ; C. Wallgren-Pettersson ; R. M. Witwicki ; S. Zwolinksi ; J. Andrieux ; X. Estivill ; J. F. Gusella ; O. Gustafsson ; A. Metspalu ; S. W. Scherer ; K. Stefansson ; A. I. Blakemore ; J. S. Beckmann ; P. Froguel
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Published 2011Staff ViewPublication Date: 2011-09-02Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adolescent ; Adult ; Aged ; Aging ; Body Height/genetics ; *Body Mass Index ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/*genetics ; Cohort Studies ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Energy Metabolism/genetics ; Europe ; Female ; Gene Dosage/*genetics ; Gene Duplication/genetics ; Gene Expression Profiling ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Head/anatomy & histology ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Disorders/genetics ; Middle Aged ; Mutation/genetics ; North America ; Obesity/*genetics ; *Phenotype ; RNA, Messenger/analysis/genetics ; Sequence Deletion/genetics ; Thinness/*genetics ; Transcription, Genetic ; Young AdultPublished by: -
5K. Suhre ; S. Y. Shin ; A. K. Petersen ; R. P. Mohney ; D. Meredith ; B. Wagele ; E. Altmaier ; P. Deloukas ; J. Erdmann ; E. Grundberg ; C. J. Hammond ; M. H. de Angelis ; G. Kastenmuller ; A. Kottgen ; F. Kronenberg ; M. Mangino ; C. Meisinger ; T. Meitinger ; H. W. Mewes ; M. V. Milburn ; C. Prehn ; J. Raffler ; J. S. Ried ; W. Romisch-Margl ; N. J. Samani ; K. S. Small ; H. E. Wichmann ; G. Zhai ; T. Illig ; T. D. Spector ; J. Adamski ; N. Soranzo ; C. Gieger
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Published 2011Staff ViewPublication Date: 2011-09-03Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adolescent ; Adult ; Aged ; Aged, 80 and over ; *Biomedical Research ; Blood/metabolism ; Child ; Chronic Disease ; Coronary Artery Disease/genetics ; Diabetes Mellitus/genetics ; *Drug Industry ; Female ; Genetic Loci/genetics ; *Genetic Variation ; *Genome-Wide Association Study ; Genotype ; Humans ; Male ; Metabolism/*genetics ; Metabolomics ; Middle Aged ; Pharmacogenetics ; Renal Insufficiency/genetics ; Risk Factors ; Venous Thromboembolism/genetics ; Young AdultPublished by: -
6T. Lappalainen ; M. Sammeth ; M. R. Friedlander ; P. A. t Hoen ; J. Monlong ; M. A. Rivas ; M. Gonzalez-Porta ; N. Kurbatova ; T. Griebel ; P. G. Ferreira ; M. Barann ; T. Wieland ; L. Greger ; M. van Iterson ; J. Almlof ; P. Ribeca ; I. Pulyakhina ; D. Esser ; T. Giger ; A. Tikhonov ; M. Sultan ; G. Bertier ; D. G. MacArthur ; M. Lek ; E. Lizano ; H. P. Buermans ; I. Padioleau ; T. Schwarzmayr ; O. Karlberg ; H. Ongen ; H. Kilpinen ; S. Beltran ; M. Gut ; K. Kahlem ; V. Amstislavskiy ; O. Stegle ; M. Pirinen ; S. B. Montgomery ; P. Donnelly ; M. I. McCarthy ; P. Flicek ; T. M. Strom ; H. Lehrach ; S. Schreiber ; R. Sudbrak ; A. Carracedo ; S. E. Antonarakis ; R. Hasler ; A. C. Syvanen ; G. J. van Ommen ; A. Brazma ; T. Meitinger ; P. Rosenstiel ; R. Guigo ; I. G. Gut ; X. Estivill ; E. T. Dermitzakis
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-09-17Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Alleles ; Cell Line, Transformed ; Exons/genetics ; Gene Expression Profiling ; Genetic Variation/*genetics ; Genome, Human/*genetics ; *High-Throughput Nucleotide Sequencing ; Humans ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/genetics ; RNA, Messenger/analysis/genetics ; *Sequence Analysis, RNA ; Transcriptome/*geneticsPublished by: -
7J. Erdmann ; K. Stark ; U. B. Esslinger ; P. M. Rumpf ; D. Koesling ; C. de Wit ; F. J. Kaiser ; D. Braunholz ; A. Medack ; M. Fischer ; M. E. Zimmermann ; S. Tennstedt ; E. Graf ; S. Eck ; Z. Aherrahrou ; J. Nahrstaedt ; C. Willenborg ; P. Bruse ; I. Braenne ; M. M. Nothen ; P. Hofmann ; P. S. Braund ; E. Mergia ; W. Reinhard ; C. Burgdorf ; S. Schreiber ; A. J. Balmforth ; A. S. Hall ; L. Bertram ; E. Steinhagen-Thiessen ; S. C. Li ; W. Marz ; M. Reilly ; S. Kathiresan ; R. McPherson ; U. Walter ; J. Ott ; N. J. Samani ; T. M. Strom ; T. Meitinger ; C. Hengstenberg ; H. Schunkert
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-11-12Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Chaperonin Containing TCP-1/genetics/metabolism ; Cyclic GMP/metabolism ; Disease Susceptibility/*metabolism ; Exome/genetics ; Female ; Genetic Predisposition to Disease ; Guanylate Cyclase/deficiency/genetics/metabolism ; HEK293 Cells ; Humans ; Male ; Mice ; Mutation/genetics ; Myocardial Infarction/genetics/*metabolism/physiopathology ; Nitric Oxide/*metabolism ; Pedigree ; Platelet Activation ; Receptors, Cytoplasmic and Nuclear/deficiency/genetics/metabolism ; Reproducibility of Results ; *Signal Transduction ; Solubility ; Thrombosis/metabolism ; VasodilationPublished by: -
8Meindl, A. ; Dry, K. ; Herrmann, K. ; Manson, E. ; Ciccodicola, A. ; Edgar, A. ; Carvalho, M.R.S. ; Achatz, H. ; Hellebrand, H. ; Lennon, A. ; Migliaccio, C. ; Porter, K. ; Zrenner, E. ; Bird, A. ; Jay, M. ; Lorenz, B. ; Wittwer, B. ; D'Urso, M. ; Meitinger, T. ; Wright, A.
[s.l.] : Nature Publishing Group
Published 1996Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xIRR RP3, has been localised to the interval between CYBB and OTC in Xp21.1 by linkage analysis and deletion mapping. Identification of ...Type of Medium: Electronic ResourceURL: -
9Staff View
ISSN: 0888-7543Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyMedicineType of Medium: Electronic ResourceURL: -
10Berger, W. ; Meindl, A. ; van de Pol, T.J.R. ; Cremers, F.P.M. ; Ropers, H.H. ; Döerner, C. ; Monaco, A. ; Bergen, A.A.B. ; Lebo, R. ; Warburg, M. ; Zergollern, L. ; Lorenz, B. ; Gal, A. ; Bleeker-Wagemakers, E.M. ; Meitinger, T.
[s.l.] : Nature Publishing Group
Published 1992Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] The gene for Norrie disease, an X–linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the ...Type of Medium: Electronic ResourceURL: -
11Berger, W. ; Meindl, A. ; Leeuw, B. ; Roos, A. ; Pol, T. J. R. ; Meitinger, T. ; Velde-Visser, S. D. ; Achatz, H. ; Kessel, A. Geurts ; Cremers, F. P. M. ; Ropers, H. -H.
Springer
Published 1992Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlapping fragments of the Xcen-Xp11.4 interval. This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. These hybrid cell lines were employed to isolate 17 new DNA probes by making use of the Alu polymerase chain reaction (PCR) method and subsequent cloning of the PCR products in a plasmid vector. With these probes, we have characterized two previously described microdeletions spanning the Norrie locus; these deletions have enabled us to subdivide the Xp11.4-p11.3 region into three defined intervals.Type of Medium: Electronic ResourceURL: -
12Tümmler, B. ; Storrs, T. ; Dziadek, V. ; Dörk, T. ; Meitinger, T. ; Golla, A. ; Bertele-Harms, R. M. ; Harms, H. K. ; Schröder, E. ; Claaß, A. ; Rutjes, J. ; Schneppenheim, R. ; Bauer, I. ; Breuel, K. ; Stuhrmann, M. ; Schmidtke, J. ; Lindner, M. ; Eigel, A. ; Horst, J. ; Kaiser, R. ; Lentze, M. J. ; Schmidt, K. ; von der Hardt, H. ; Estivill, X.
Springer
Published 1996Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents’ birthplace, 74% of CF chromosomes had their origin in Germany; the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today’s Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.Type of Medium: Electronic ResourceURL: -
13Tümmler, B. ; Storrs, T. ; Dziadek, V. ; Dörk, T. ; Hardt, H. ; Meitinger, T. ; Golla, A. ; Bertele-Harms, R. M. ; Harms, H. K. ; Schröder, E. ; Claaß, A. ; Rutjes, J. ; Scheppenheim, R. ; Bauer, I. ; Breuel, K. ; Stuhrmann, M. ; Schmidke, J. ; Linder, M. ; Eigel, A. ; Horst, J. ; Kaiser, R. ; Lentze, M. J. ; Schmidt, K. ; Estivill, X.
Springer
Published 1996Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.Type of Medium: Electronic ResourceURL: -
14Deufel, T. ; Rabe, H. ; Wieser, T. ; Meitinger, T. ; Rosenecker, J. ; Bertele-Harms, R. ; Harms, K. ; Hadorn, H. -B. ; Roscher, A. A.
Springer
Published 1993Staff ViewISSN: 1432-1076Keywords: Cystic fibrosis ; Mutation frequency ; Polymerase chain reaction ; Molecular geneticsSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract Since the characterization of the gene encoding the cystic fibrosis transmembrane conductance regulator protein and identification of its main mutation, ΔF508, causing cystic fibrosis (CF), more than 150 mutations in this gene have been reported, most of them only in a few or even single CF patients. Attempts to use mutation analysis in genetic counselling or for the diagnosis of CF depends on prevalence data of certain mutations in the respective population, and considerable ethnic differences have been reported. In this study we determined the prevalence of the mutations ΔF508, G551D, R553X, and G542X and of genotypes defined by these mutations in 239 CF patients (444 independent CF chromosomes) seen in our clinic. The analysis for those four mutations alone now permits identification of approximately 75% of all mutations in our CF patients. The complete genotype can be resolved in approximately 63% of patients. This represents the diagnostic sensitivity which can be achieved by mutation analysis in patients without a family history of CF. We conclude that in situations where conventional diagnostic tests are not feasible or difficult to interpret, mutation analysis using a limited set of mutations can contribute significantly to an early and specific diagnosis of CF.Type of Medium: Electronic ResourceURL: -
15Staff View
ISSN: 1435-1285Keywords: Schlüsselwörter Apikale ; hypertrophe Kardiomyopathie ; βMHC-de novo-Mutation ; Plötzlicher Herztod ; Key words Apical hypertrophic ; cardiomyopathy ; β-myosin heavy chain de novo mutation ; codon 719 ; sudden deathSource: Springer Online Journal Archives 1860-2000Topics: MedicineDescription / Table of Contents: Summary Hypertrophic cardiomyopathy (HCM) is a myocardial disease with variable phenotpye and genotype. To demonstrate that the mutation Arg719Trp in the cardiac β-myosin heavy chain (βMHC) gene is a high risk factor for sudden death and can be associated with an unusual apical non-obstructive HCM, we report the case of a 61/2 year old boy, who suffered cardiac arrest. The proband had a de novo mutation of the βMHC gene (Arg719Trp) on the paternal βMHC allele and a second maternally transmitted mutation (Met349Thr), as was shown previously (Jeschke et al. 1998 (11)). Here we report the clinical phenotype of the proband and of his relatives in detail. The proband had a marked apical and midventricular hypertrophy of the left and right ventricle without obstruction. There was an abnormal relaxation of both ventricles. Holter monitoring detected no arrhythmia. Ventricular fibrillation was inducible only by aggressive programmed stimulation. The boy died 31/2years later after another cardiac arrest due to arrhythmia. Five carriers of the Met349Thr mutation in the family were asymptomatic and had no echocardiographic changes in the heart, suggesting a neutral inherited polymorphism or a recessive mutation. It is concluded that there is an association of the mutation Arg719Trp in the β-myosin heavy chain with sudden cardiac death in a young child. Disease history in conjunction with the genetic analysis suggests that the implantation of a defibrillator converter would have been a beneficial and probably life saving measure.Notes: Zusammenfassung Die hypertrophe Kardiomyopathie (HCM) ist eine Erkrankung des Myokards mit variablem Geno- und Phänotyp. Um zu zeigen, dass die Mutation Arg719Trp ein Risikofaktor bedeutet und mit einer apikalen HCM (AHCM) einhergehen kann, berichten wir über einen Jungen, der im Alter von 61/2 Jahren als Erstmanifestation eine reanimationsbedürftige tachycarde Syncope erlitt und 31/2 Jahre später an einem zweiten Anfall verstarb. Bei diesem Jungen war eine denovo Mutation im β-Myosingen (βMHC) (Arg719Trp) auf den paternalen sowie eine Met349Thr-Mutation auf dem maternalen Allel identifiziert worden (11). Die vorliegende Studie beschreibt den Phänotyp des Patienten, seine Familie und den weiteren klinischen Verlauf. Doppler-echocardiographisch zeigt sich eine nicht obstruktive apikale HCM mit abnormer Relaxation des linken und rechten Ventrikels. Elektrophysiologisch ließ sich nur unter aggressivem Stimulationsprotokoll und Suprarenin Kammerflimmern auslösen. In den 31/2 Jahren waren in den Langzeit-EKG‘s Arrythmien nicht nachweisbar, bis der Junge im zweiten Anfall verstarb. Die fünf Träger der Mutation Met349Thr hatten keine Symptome der HCM. Schlussfolgerung: Assoziation der Arg719Trp-Mutation im β-Myosin-Gen mit plötzlichem Herztod bei einem Kind.Type of Medium: Electronic ResourceURL: -
16Staff View
Publication Date: 2018-01-12Publisher: American Heart Association (AHA)Print ISSN: 1942-325XElectronic ISSN: 1942-3268Topics: MedicineKeywords: Electrophysiology, Genetic, Association StudiesPublished by: -
17Staff View
Publication Date: 2018-05-11Publisher: American Heart Association (AHA)Print ISSN: 1942-325XElectronic ISSN: 1942-3268Topics: MedicineKeywords: Electrophysiology, Epidemiology, Genetic, Association StudiesPublished by: