Eliecer Coto

Eliecer Coto

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Eliecer Coto

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Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 Aug 15. Epub 2019 Aug 15.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0495-7DOI Listing
August 2019

NFKBIZ and CW6 in Adalimumab Response Among Psoriasis Patients: Genetic Association and Alternative Transcript Analysis.

Mol Diagn Ther 2019 Jul 2. Epub 2019 Jul 2.

Genética Molecular, Hospital Universitario Central Asturias, 33011, Oviedo, Spain.

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http://dx.doi.org/10.1007/s40291-019-00409-xDOI Listing
July 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Insights Into Hypertrophic Cardiomyopathy Evaluation Through Follow-up of a Founder Pathogenic Variant.

Rev Esp Cardiol (Engl Ed) 2019 Feb 6;72(2):138-144. Epub 2018 Apr 6.

Unidad de Cardiopatías Familiares, Departamento de Cardiología y Genética Molecular, Hospital Universitario Central de Asturias (HUCA), Oviedo, Asturias, Spain; Instituto de Investigación Sanitaria del Principado de Asturias (IISPA), Oviedo, Asturias, Spain.

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http://dx.doi.org/10.1016/j.rec.2018.02.009DOI Listing
February 2019

Variants in cardiac GATA genes associated with bicuspid aortic valve.

Eur J Clin Invest 2018 Dec 8;48(12):e13027. Epub 2018 Oct 8.

Bone and Mineral Research Unit, REDinREN-ISCIII, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1111/eci.13027DOI Listing
December 2018

Familial hyperuricaemic nephropathy: New mutation in uromodulin gen.

Nefrologia 2019 May - Jun;39(3):309-311. Epub 2018 Nov 22.

Departamento de Anatomía Patológica, Hospital San Cecilio, Granada, España.

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http://dx.doi.org/10.1016/j.nefro.2018.09.001DOI Listing
November 2018

Salt-losing tubulopathy and chronic dermatitis.

Kidney Int 2018 08;94(2):433

Pediatric Nephrology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias and University of Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.kint.2017.12.007DOI Listing
August 2018

Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy.

Epigenomics 2018 07 2;10(7):865-873. Epub 2018 Jul 2.

Unidad de Referencia de Cardiopatías Familiares-HUCA, Genética Molecular y Cardiología, Hospital Universitario Central Asturias, Oviedo, Spain.

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http://dx.doi.org/10.2217/epi-2017-0175DOI Listing
July 2018

Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and their association with type 2 diabetes and impaired renal function.

Hum Immunol 2018 Jun 27;79(6):494-498. Epub 2018 Mar 27.

Dermatología, HUCA, Oviedo, Spain; Universidad de Oviedo, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias-ISPA, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.humimm.2018.03.008DOI Listing
June 2018

NFKBIZ in Psoriasis: Assessing the association with gene polymorphisms and report of a new transcript variant.

Hum Immunol 2017 May - Jun;78(5-6):435-440. Epub 2017 Mar 1.

Genética Molecular, Hospital Universitario Central Asturias, Oviedo, Spain; Dept Medicine, Universidad Oviedo, Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.humimm.2017.02.008DOI Listing
February 2018

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ng.3916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669039PMC
September 2017

Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.

Epigenomics 2017 08 27;9(8):1049-1057. Epub 2017 Jul 27.

Genética Molecular, Hospital Universitario Central Asturias, Oviedo, Spain.

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http://dx.doi.org/10.2217/epi-2017-0024DOI Listing
August 2017

Rare genetic variants in GATA transcription factors in patients with hypertrophic cardiomyopathy.

J Investig Med 2017 06 5;65(5):926-934. Epub 2017 Apr 5.

Bone and Mineral Research Unit, Instituto Reina Sofía de Investigación, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1136/jim-2016-000364DOI Listing
June 2017

Screening of the Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Circ Cardiovasc Genet 2017 Apr;10(2)

From the Unidad de Referencia de Cardiopatías Familiares-HUCA, Genética Molecular y Cardiología, Hospital Universitario Central Asturias, Oviedo, Spain (J.G., R.L., J.R.R., C.M., M.M., B.A., S.I., V.A., B.D.-M., P.A., E.C.); Fundación Asturcor, Spain (J.R.R., C.M.); Departamento de Medicina, Universidad de Oviedo, Spain (C.M., E.C.); Centro Salud El Cristo, Oviedo, Spain (S.T.); and Red de Investigación Renal (REDINREN), Madrid, Spain (E.C.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001584DOI Listing
April 2017

An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.

Am J Med Genet A 2017 Mar 21;173(3):749-752. Epub 2016 Nov 21.

Genética Molecular and Cardiología, HUCA, Oviedo, Spain.

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http://dx.doi.org/10.1002/ajmg.a.38062DOI Listing
March 2017

Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.

Genet Test Mol Biomarkers 2016 Nov 30;20(11):674-679. Epub 2016 Aug 30.

2 Unidad de Referencia de Cardiopatías Familiares-HUCA, Genética Molecular y Cardiología, Hospital Universitario Central Asturias , Oviedo, Spain .

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http://dx.doi.org/10.1089/gtmb.2016.0187DOI Listing
November 2016

KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort.

Mol Cell Endocrinol 2016 May 9;427:86-91. Epub 2016 Mar 9.

Genética Molecular-Laboratorio Medicina, HUCA, Oviedo, Spain; Universidad de Oviedo, Oviedo, Spain; Red investigacion renal (REDINREN), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2016.03.007DOI Listing
May 2016

Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients.

Int J Cardiol 2016 Apr 3;209:149-50. Epub 2016 Feb 3.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central Asturias, Oviedo, Spain; Departamento de Medicina, Universidad de Oviedo, Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.02.024DOI Listing
April 2016

Hypertrophic cardiomyopathy and left ventricular non-compaction: Different manifestations of the same cardiomyopathy spectrum?

Int J Cardiol 2015 17;190:26-8. Epub 2015 Apr 17.

Hospital Universitario Central de Asturias, Department of Cardiology, Avd. Roma sn, 33011 Oviedo, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2015.04.138DOI Listing
February 2016

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Neurobiol Aging 2016 Feb 5;38:215.e13-215.e14. Epub 2015 Nov 5.

Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.030DOI Listing
February 2016

Diagnostic impact of genetic testing in hypertrophic cardiomyopathy: The story of two families.

Int J Cardiol 2016 Feb 14;205:161-162. Epub 2015 Dec 14.

Cardiología, Hospital Universitario Central de Asturias (HUCA), Avd. Roma sn, Oviedo, 33011, Spain; Genética Molecular-Laboratorio Medicina, Hospital Universitario Central de Asturias (HUCA), 33011, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2015.12.025DOI Listing
February 2016

The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy.

Rev Esp Cardiol (Engl Ed) 2016 Jan 5;69(1):61-8. Epub 2015 Dec 5.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain; Departamento de Medicina, Universidad de Oviedo, Oviedo, Asturias, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.rec.2015.10.001DOI Listing
January 2016

Influence of Fcγ Receptor Polymorphisms on Response to Anti-Tumor Necrosis Factor Treatment in Psoriasis.

JAMA Dermatol 2015 Dec;151(12):1376-1378

Department of Dermatology II, Hospital Universitario Central Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1001/jamadermatol.2015.2818DOI Listing
December 2015

CDKAL1 gene variants affect the anti-TNF response among Psoriasis patients.

Int Immunopharmacol 2015 Dec 10;29(2):947-949. Epub 2015 Nov 10.

Genética Molecular, Hospital Universitario Central Asturias, Oviedo, Spain; Departamento Medicina, Universidad Oviedo, Oviedo; Spain. Electronic address:

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http://dx.doi.org/10.1016/j.intimp.2015.11.008DOI Listing
December 2015

Association between single nucleotide polymorphisms IL17RA rs4819554 and IL17E rs79877597 and Psoriasis in a Spanish cohort.

J Dermatol Sci 2015 Nov 27;80(2):111-5. Epub 2015 Jun 27.

Department of Dermatology II, Hospital Universitario Central Asturias, Calle Carretera de Rubín, s/n, 33011 Oviedo, Spain; Department of Medicine, Universidad de Oviedo, Calle San Francisco, 1, 33003 Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.06.011DOI Listing
November 2015

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 2015

Next generation sequencing search for uromodulin gene variants related with impaired renal function.

Mol Biol Rep 2015 Sep 4;42(9):1353-8. Epub 2015 Jun 4.

Genética Molecular-Laboratorio Medicina, Hospital Universitario Central de Asturias (HUCA), 33011, Oviedo, Spain.

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http://dx.doi.org/10.1007/s11033-015-3883-9DOI Listing
September 2015

A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes.

Lung 2015 Aug 28;193(4):571-4. Epub 2015 Apr 28.

Genética Molecular-Laboratorio de Medicina-Fundación Renal (IRSIN-FRIAT), Hospital Universitario Central Asturias, 33011, Oviedo, Spain.

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http://link.springer.com/10.1007/s00408-015-9736-4
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http://dx.doi.org/10.1007/s00408-015-9736-4DOI Listing
August 2015

Cardiovascular risk factors influence response to biological therapies in psoriasis.

J Am Acad Dermatol 2015 Aug;73(2):327-9

Dermatology II, Hospital Universitario Central de Asturias, Oviedo, Spain; Medicine Department, University of Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2015.04.041DOI Listing
August 2015

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Circ J 2014 22;78(12):2963-71. Epub 2014 Oct 22.

Molecular Genetics Dept-Laboratory of Medicine-Renal Foundation (IRSIN-FRIAT), Hospital Central Asturias.

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http://dx.doi.org/10.1253/circj.cj-14-0628DOI Listing
July 2015

The TNFRSF1B rs1061622 polymorphism (p.M196R) is associated with biological drug outcome in Psoriasis patients.

Arch Dermatol Res 2015 Jul 24;307(5):405-12. Epub 2014 Dec 24.

Unit of Psoriasis, Dermatology II Department, Hospital Universitario Central de Asturias, University of Oviedo, 33006, Oviedo, Spain,

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http://dx.doi.org/10.1007/s00403-014-1533-zDOI Listing
July 2015

A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.

J Mol Neurosci 2015 Jul 1;56(3):613-6. Epub 2015 May 1.

Genética-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33011, Oviedo, Spain.

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http://dx.doi.org/10.1007/s12031-015-0560-3DOI Listing
July 2015

The Cw6 and late-cornified envelope genotype plays a significant role in anti-tumor necrosis factor response among psoriatic patients.

Pharmacogenet Genomics 2015 Jun;25(6):313-6

aDermatology II bMolecular Genetics cRheumatology, Hospital Universitario Central Asturias dDepartment of Medicine, University of Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1097/FPC.0000000000000136DOI Listing
June 2015

The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients.

J Hum Genet 2015 May 12;60(5):273-6. Epub 2015 Feb 12.

1] Genética Molecular- Fundación Renal I. Alvarez de Toledo, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain [2] Departamento de Medicina, Universidad de Oviedo, Oviedo, Spain [3] Red de Investigación Renal-REDINREN, Madrid, Spain.

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http://dx.doi.org/10.1038/jhg.2015.12DOI Listing
May 2015

A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.

Gene 2015 Apr 17;561(1):165-9. Epub 2015 Feb 17.

Genética-Laboratorio de Medicina, Hospital Universitario Central Asturias, Oviedo, Spain; Departamento de Medicina, Universidad de Oviedo, Oviedo, Spain; Red de Investigación Renal (REDINREN), Madrid, Spain; Fundación Renal I. Alvarez de Toledo, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.02.040DOI Listing
April 2015

Association between the IL17RA rs4819554 polymorphism and reduced renal filtration rate in the Spanish RENASTUR cohort.

Hum Immunol 2015 Mar 27;76(2-3):75-8. Epub 2015 Jan 27.

Inmunología, HUCA, Oviedo, Spain; Red de Investigación Renal - Instituto Salud Carlo III, Madrid, Spain; Fundación Renal I. Alvarez de Toledo, Madrid, Spain.

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http://dx.doi.org/10.1016/j.humimm.2015.01.027DOI Listing
March 2015

MiRNA profile in the substantia nigra of Parkinson's disease and healthy subjects.

J Mol Neurosci 2014 Dec 5;54(4):830-6. Epub 2014 Oct 5.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://link.springer.com/content/pdf/10.1007/s12031-014-0428
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http://link.springer.com/10.1007/s12031-014-0428-y
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http://dx.doi.org/10.1007/s12031-014-0428-yDOI Listing
December 2014

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Nat Commun 2014 Oct 29;5:5326. Epub 2014 Oct 29.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain.

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http://dx.doi.org/10.1038/ncomms6326DOI Listing
October 2014

Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthritis and type 2 diabetes mellitus.

J Dermatol Sci 2014 Sep 11;75(3):167-72. Epub 2014 Jun 11.

Dermatology Department, Hospital Universitario Central de Asturias, Oviedo, Spain; Psoriasis Unit, Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2014.05.010DOI Listing
September 2014

Effect of the FTO rs9930506 Polymorphism on the Main Comorbidities of the Cardiorenal Metabolic Syndrome in an Elderly Spanish Cohort.

Cardiorenal Med 2014 Aug 23;4(2):82-7. Epub 2014 Apr 23.

Nefrología, Hospital Universitario Central de Asturias, Oviedo, Spain ; Departamento de Medicina, Universidad Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1159/000361054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164085PMC
August 2014

Effect of mitochondrial, APOE, ACE and NOS3 gene polymorphisms on cardiovascular risk factors among the Vaqueiros de Alzada, a Northern Spain human isolate.

Ann Hum Biol 2014 Jan-Feb;41(1):94-7. Epub 2013 Sep 11.

Departamento Biología Organismos y Sistemas, Universidad Oviedo , Oviedo , Spain .

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http://dx.doi.org/10.3109/03014460.2013.827738DOI Listing
July 2014

A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.

J Hum Genet 2014 Jul 15;59(7):376-80. Epub 2014 May 15.

1] Genética Molecular-Laboratorio de Medicina-Fundación Renal (IRSIN-FRIAT), Hospital Universitario Central Asturias, Oviedo, Spain [2] Departamento de Medicina, Universidad de Oviedo, Oviedo, Spain [3] Red de Investigación Renal (REDINREN), Madrid, Spain.

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http://dx.doi.org/10.1038/jhg.2014.37DOI Listing
July 2014

The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.

J Hum Genet 2014 Jun 24;59(6):346-8. Epub 2014 Apr 24.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1038/jhg.2014.26DOI Listing
June 2014

Alpha-synuclein transcript isoforms in three different brain regions from Parkinson's disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms.

Neurosci Lett 2014 Mar 10;562:45-9. Epub 2014 Jan 10.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2014.01.009DOI Listing
March 2014

Mitochondrial DNA haplogroups and risk of new-onset diabetes among tacrolimus-treated renal transplanted patients.

Gene 2014 Mar 18;538(1):195-8. Epub 2014 Jan 18.

Genética Molecular, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain; Fundación Renal I. Alvarez de Toledo, Madrid, Spain; Universidad de Oviedo, Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.036DOI Listing
March 2014

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

Kidney Int 2014 Feb 12;85(2):383-92. Epub 2013 Jun 12.

1] Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA [2] Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/ki.2013.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883953PMC
February 2014

Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.

J Cardiovasc Transl Res 2014 Feb 5;7(1):133-7. Epub 2013 Nov 5.

Genética Molecular-Laboratorio de Medicina-Fundación Renal (IRSIN-FRIAT), Hospital Universitario Central Asturias, 33006, Oviedo, Spain.

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February 2014

No differential DNA methylation of PARK2 in brain of Parkinson's disease patients and healthy controls.

Mov Disord 2013 Dec 18;28(14):2032-3. Epub 2013 Jul 18.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1002/mds.25593DOI Listing
December 2013

The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain).

Int J Cardiol 2013 Oct 17;168(4):4555-6. Epub 2013 Jul 17.

Cardiología-Fundación Asturcor, Hospital Universitario Central Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2013.06.085DOI Listing
October 2013

SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort.

DNA Cell Biol 2013 Oct 1;32(10):601-4. Epub 2013 Aug 1.

1 Department of Dermatología II, Hospital Universitario Central Asturias , Oviedo, Spain .

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http://dx.doi.org/10.1089/dna.2013.2109DOI Listing
October 2013

A search for new CYP3A4 variants as determinants of tacrolimus dose requirements in renal-transplanted patients.

Pharmacogenet Genomics 2013 Aug;23(8):445-8

Molecular Genetics-Laboratory of Medicine, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain.

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http://dx.doi.org/10.1097/FPC.0b013e3283636856DOI Listing
August 2013

A Common Polymorphism Is an Independent Risk Factor for Reduced Glomerular Filtration Rate in the Spanish RENASTUR Cohort.

Cardiorenal Med 2013 Jul 16;3(2):113-119. Epub 2013 May 16.

Genética Molecular-Laboratorio Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain ; Fundación Renal and Red de Investigación Renal (REDinREN), Madrid, Spain.

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http://dx.doi.org/10.1159/000351158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721126PMC
July 2013

New polymorphisms in human MEF2C gene as potential modifier of hypertrophic cardiomyopathy.

Mol Biol Rep 2012 Sep 21;39(9):8777-85. Epub 2012 Jun 21.

Bone and Mineral Research Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://link.springer.com/10.1007/s11033-012-1740-7
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September 2012

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

J Mol Diagn 2012 Sep 2;14(5):518-24. Epub 2012 Jul 2.

Molecular Genetics-Laboratory of Medicine-Renal Foundation (IRSIN-FRIAT), University Central Hospital Asturias (HUCA), Oviedo, Spain.

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http://dx.doi.org/10.1016/j.jmoldx.2012.04.001DOI Listing
September 2012

A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

J Mol Neurosci 2012 Jul 11;47(3):425-30. Epub 2011 Nov 11.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1007/s12031-011-9669-1DOI Listing
July 2012

Common European mitochondrial haplogroups in the risk for psoriasis and psoriatic arthritis.

Genet Test Mol Biomarkers 2012 Jun 22;16(6):621-3. Epub 2011 Dec 22.

Dermatología II, Hospital Universitario Central Asturias (HUCA), Oviedo, Spain.

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http://dx.doi.org/10.1089/gtmb.2011.0266DOI Listing
June 2012

Psoriasis and type 2 diabetes risk among psoriatic patients in a Spanish population.

Australas J Dermatol 2012 May 18;53(2):128-30. Epub 2011 Aug 18.

Dermatology Unit, Hospital Marqués de Valdecilla, Santander, Spain.

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http://dx.doi.org/10.1111/j.1440-0960.2011.00802.xDOI Listing
May 2012

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.

J Neurol 2012 Feb 2;259(2):246-50. Epub 2011 Jul 2.

Laboratory of Molecular Genetics, Laboratory of Medicine, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1007/s00415-011-6155-1DOI Listing
February 2012

IL-15 preferentially enhances functional properties and antigen-specific responses of CD4+CD28(null) compared to CD4+CD28+ T cells.

Aging Cell 2011 Oct 27;10(5):844-52. Epub 2011 Jun 27.

Department of Immunology, Hospital Universitario Central de Asturias, C ⁄ Julián Clavería s ⁄ n,Oviedo, Spain.

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http://dx.doi.org/10.1111/j.1474-9726.2011.00725.xDOI Listing
October 2011

Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter.

Epigenetics 2011 Oct 1;6(10):1236-41. Epub 2011 Oct 1.

Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain.

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http://dx.doi.org/10.4161/epi.6.10.17654DOI Listing
October 2011

IL-15 preferentially enhances functional properties and antigen-specific responses of CD4+CD28(null) compared to CD4+CD28+ T cells.

Aging Cell 2011 Oct 27;10(5):844-52. Epub 2011 Jun 27.

Department of Immunology, Hospital Universitario Central de Asturias, C ⁄ Julián Clavería s ⁄ n,Oviedo, Spain.

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http://dx.doi.org/10.1111/j.1474-9726.2011.00725.xDOI Listing
October 2011

NKG2D and its ligands: active factors in the outcome of solid organ transplantation?

Kidney Int Suppl (2011) 2011 Aug;1(2):52-57

Department of Immunology, Hospital Universitario Central de Asturias , Oviedo, Spain ; Fundación Renal 'Iñigo Alvarez de Toledo' , Madrid, Spain.

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http://dx.doi.org/10.1038/kisup.2011.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4089716PMC
August 2011

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

Authors:
Paul Hollingworth Denise Harold Rebecca Sims Amy Gerrish Jean-Charles Lambert Minerva M Carrasquillo Richard Abraham Marian L Hamshere Jaspreet Singh Pahwa Valentina Moskvina Kimberley Dowzell Nicola Jones Alexandra Stretton Charlene Thomas Alex Richards Dobril Ivanov Caroline Widdowson Jade Chapman Simon Lovestone John Powell Petroula Proitsi Michelle K Lupton Carol Brayne David C Rubinsztein Michael Gill Brian Lawlor Aoibhinn Lynch Kristelle S Brown Peter A Passmore David Craig Bernadette McGuinness Stephen Todd Clive Holmes David Mann A David Smith Helen Beaumont Donald Warden Gordon Wilcock Seth Love Patrick G Kehoe Nigel M Hooper Emma R L C Vardy John Hardy Simon Mead Nick C Fox Martin Rossor John Collinge Wolfgang Maier Frank Jessen Eckart Rüther Britta Schürmann Reiner Heun Heike Kölsch Hendrik van den Bussche Isabella Heuser Johannes Kornhuber Jens Wiltfang Martin Dichgans Lutz Frölich Harald Hampel John Gallacher Michael Hüll Dan Rujescu Ina Giegling Alison M Goate John S K Kauwe Carlos Cruchaga Petra Nowotny John C Morris Kevin Mayo Kristel Sleegers Karolien Bettens Sebastiaan Engelborghs Peter P De Deyn Christine Van Broeckhoven Gill Livingston Nicholas J Bass Hugh Gurling Andrew McQuillin Rhian Gwilliam Panagiotis Deloukas Ammar Al-Chalabi Christopher E Shaw Magda Tsolaki Andrew B Singleton Rita Guerreiro Thomas W Mühleisen Markus M Nöthen Susanne Moebus Karl-Heinz Jöckel Norman Klopp H-Erich Wichmann V Shane Pankratz Sigrid B Sando Jan O Aasly Maria Barcikowska Zbigniew K Wszolek Dennis W Dickson Neill R Graff-Radford Ronald C Petersen Cornelia M van Duijn Monique M B Breteler M Arfan Ikram Anita L DeStefano Annette L Fitzpatrick Oscar Lopez Lenore J Launer Sudha Seshadri Claudine Berr Dominique Campion Jacques Epelbaum Jean-François Dartigues Christophe Tzourio Annick Alpérovitch Mark Lathrop Thomas M Feulner Patricia Friedrich Caterina Riehle Michael Krawczak Stefan Schreiber Manuel Mayhaus S Nicolhaus Stefan Wagenpfeil Stacy Steinberg Hreinn Stefansson Kari Stefansson Jon Snaedal Sigurbjörn Björnsson Palmi V Jonsson Vincent Chouraki Benjamin Genier-Boley Mikko Hiltunen Hilkka Soininen Onofre Combarros Diana Zelenika Marc Delepine Maria J Bullido Florence Pasquier Ignacio Mateo Ana Frank-Garcia Elisa Porcellini Olivier Hanon Eliecer Coto Victoria Alvarez Paolo Bosco Gabriele Siciliano Michelangelo Mancuso Francesco Panza Vincenzo Solfrizzi Benedetta Nacmias Sandro Sorbi Paola Bossù Paola Piccardi Beatrice Arosio Giorgio Annoni Davide Seripa Alberto Pilotto Elio Scarpini Daniela Galimberti Alexis Brice Didier Hannequin Federico Licastro Lesley Jones Peter A Holmans Thorlakur Jonsson Matthias Riemenschneider Kevin Morgan Steven G Younkin Michael J Owen Michael O'Donovan Philippe Amouyel Julie Williams

Nat Genet 2011 May 3;43(5):429-35. Epub 2011 Apr 3.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/ng.803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084173PMC
May 2011

New psoriasis susceptibility genes: momentum for skin-barrier disruption.

J Invest Dermatol 2011 May;131(5):1003-5

Genética Molecular, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1038/jid.2011.14DOI Listing
May 2011