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Material Type: Artigo
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Prevalence and architecture of de novo mutations in developmental disordersMcRae, Jeremy F ; Clayton, Stephen ; Mason, Laura E ; Tivey, Adrian R ; Ahmed, Munaza ; Awada, Jana ; Balasubramanian, Meena ; Banka, Siddharth ; Bennett, Chris ; Bernhard, Birgitta ; Bevan, A. Paul ; Blair, Edward ; Blyth, Moira ; Burn, John ; Castle, Bruce ; Clasper, Susan ; Collins, Amanda ; Collinson, Morag N ; Dabir, Tabib ; Davidson, Rosemarie ; Davies, Sally ; Dean, John ; Donnai, Dian ; Ellard, Sian ; Ellis, Ian ; Everest, Sarah ; Foulds, Nicola ; Fryer, Alan ; Gaunt, Lorraine ; Goudie, David ; Gray, Emma ; Greene, Philip ; Gribble, Susan ; Henderson, Alex ; Hildyard, Lucy ; Holden, Simon ; Holder, Muriel ; Ingram, Stuart ; Jackson, Andrew ; Kaemba, Beckie ; Kazembe, Sandra ; Kinning, Esther ; Kraus, Alison ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Lam, Wayne ; Lim, Derek ; Longman, Cheryl ; Lynch, Sally A ; Maher, Eddy ; Maye, Una ; McKay, Kirsten ; McWilliam, Catherine ; Metcalfe, Kay ; Morgan, Sian ; Murday, Victoria ; Murphy, Helen ; Nemeth, Andrea ; Nevitt, Louise ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Paterson, Joan ; Payne, Stewart ; Perrett, Daniel ; Pratt, Norman ; Quarrell, Oliver ; Randall, Josh ; Rankin, Julia ; Raymond, Lucy ; Robert, Leema ; Roberts, Paul ; Saggar, Anand ; Samant, Shalaka ; Sampson, Julian ; Sandford, Richard ; Selby, Ann ; Sequeira, Cheryl ; Shearing, Emma ; Smith, Audrey ; Smith, Kath ; Splitt, Miranda ; Suri, Mohnish ; Sutton, Vivienne ; Tatton-Brown, Kate ; Temple, I. Karen ; Turner, Claire ; Varghese, Vinod ; Vasudevan, Pradeep ; Vogt, Julie ; Wakeling, Emma ; Wilcox, Sarah ; Williams, Denise ; Williams, Nicola ; Wilson, Louise ; Wright, Michael ; Yates, Laura ; Yau, Michael ; Wright, Caroline F ; FitzPatrick, David R ; Barrett, Jeffrey CNature (London), 2017-02, Vol.542 (7642), p.433-438 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney diseaseSpithoven, Edwin M. ; Kramer, Anneke ; Meijer, Esther ; Orskov, Bjarne ; Wanner, Christoph ; Caskey, Fergus ; Collart, Frederic ; Finne, Patrik ; Fogarty, Damian G. ; Groothoff, Jaap W. ; Hoitsma, Andries ; Nogier, Marie-Béatrice ; Postorino, Maurizio ; Ravani, Pietro ; Zurriaga, Oscar ; Jager, Kitty J. ; Gansevoort, Ron T. ; on behalf of the ERA-EDTA Registry, the EuroCYST consortium and the WGIKDKidney international, 2014-12, Vol.86 (6), p.1244-1252 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohortBraddon, Fiona ; Downward, Lewis ; Coward, Richard J ; Griffin, Sian ; Hall, Matt ; Karet Frankl, Fiona ; Kerecuk, Larissa ; Pinney, Jenny ; Sayer, John A ; Waters, Aoife ; Bockenhauer, Detlef ; Gale, Daniel P ; Agbonmwandolor, Joy ; Ahmad, Zubaidah ; Asgari, Ellie ; Ayers, Amanda ; Barratt, Alison ; Barratt, Jonathan ; Benyon, Sarah ; Bhandari, Sunil ; Bond, Sally ; Bramham, Kate ; Branson, Angela ; Byrne, Conor ; Campbell, Gary ; Capell, Alys ; Cathcart, Tracy ; Cheung, Chee Kay ; Chick, Katy-Jane ; Chrysochou, Tina ; Clayton, Christopher ; Cook, Wendy ; Coward, Richard J ; Drayson, Mark ; Evans, Dawn ; Flinter, Frances ; Gale, Daniel P ; Gallagher, Hugh ; Game, David ; Gavrila, Madita ; Gilchrist, Mark ; Goldsmith, Christopher ; Gray, Barry ; Griffith, Megan ; Gupta, Sanjana ; Hillman, Kate ; Htet, Zay ; Huish, Sharon ; Hull, Richard ; Hunter, Karl ; Inston, Nick ; Jayne, David ; Jenkins, Alison ; Kamesh, Lavanya ; Kanigicherla, Durga ; Karet Frankl, Fiona ; Kaur, Amrit ; King, Garry ; King, Grant ; Kislowska, Ewa ; Kokocinska, Maria ; Lawless, Laura ; Mabillard, Holly ; Mahdi, Khalid ; Masoud, Sherry ; Mayfair, Jake ; Meyrick, Simon ; Moochhala, Shabbir ; Morgan, Ann ; Muhammad, Fawad ; Murray, Shona ; Osmaston, Kate ; Padmanabhan, Neal ; Pattison, James ; Persu, Alexandre ; Petchey, William G ; Post, Frank ; Sandford, Richard ; Sarween, Nadia ; Sayer, John A ; Sebire, Neil ; Selvaskandan, Haresh ; Sharma, Asheesh ; Sheerin, Neil ; Shetty, Harish ; Simms, Roslyn ; Smith, Kerry ; Swift, Pauline ; Szklarzewicz, Justyna ; Tam, Fred ; Tan, Kay ; Tischkowitz, Marc ; Tse, Yincent ; Tyerman, Kay ; Usher, Miranda ; Wechalekar, Ashutosh ; Welsh, Gavin I ; West, Nicol ; Williams, Angharad ; Wilson, Patricia DThe Lancet (British edition), 2024-03, Vol.403 (10433), p.1279-1289 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA BankLambert, Heather J ; Stewart, Aisling ; Gullett, Ambrose M ; Cordell, Heather J ; Malcolm, Sue ; Feather, Sally A ; Goodship, Judith A ; Goodship, Timothy H J ; Woolf, Adrian SClinical journal of the American Society of Nephrology, 2011-04, Vol.6 (4), p.760-766 [Periódico revisado por pares]United States: American Society of NephrologyTexto completo disponível |
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Material Type: Artigo
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Genetic Modifiers of Lung Disease in Cystic FibrosisDrumm, Mitchell L ; Konstan, Michael W ; Schluchter, Mark D ; Handler, Allison ; Pace, Rhonda ; Zou, Fei ; Zariwala, Maimoona ; Fargo, David ; Xu, Airong ; Dunn, John M ; Darrah, Rebecca J ; Dorfman, Ruslan ; Sandford, Andrew J ; Corey, Mary ; Zielenski, Julian ; Durie, Peter ; Goddard, Katrina ; Yankaskas, James R ; Wright, Fred A ; Knowles, Michael RThe New England journal of medicine, 2005-10, Vol.353 (14), p.1443-1453 [Periódico revisado por pares]Boston, MA: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthmaAsai, Yuka ; Eslami, Aida ; van Ginkel, C. Dorien ; Akhabir, Loubna ; Wan, Ming ; Yin, David ; Ellis, George ; Ben-Shoshan, Moshe ; Marenholz, Ingo ; Martino, David ; Ferreira, Manuel A. ; Allen, Katrina ; Mazer, Bruce ; de Groot, Hans ; de Jong, Nicolette W. ; Gerth van Wijk, Roy ; Dubois, Anthony E.J. ; Grosche, Sarah ; Ashley, Sarah ; Rüschendorf, Franz ; Kalb, Birgit ; Beyer, Kirsten ; Nöthen, Markus M. ; Lee, Young-Ae ; Chin, Rick ; Cheuk, Stephen ; Hoffman, Joshua ; Jorgensen, Eric ; Witte, John S. ; Melles, Ronald B. ; Hong, Xiumei ; Wang, Xiaobin ; Hui, Jennie ; Musk, Arthur W. (Bill) ; Hunter, Michael ; James, Alan L. ; Koppelman, Gerard H. ; Sandford, Andrew J. ; Clarke, Ann E. ; Daley, DeniseJournal of allergy and clinical immunology, 2018-04, Vol.141 (4), p.1513-1516 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Asthma and genes encoding components of the vitamin D pathwayBossé, Yohan ; Lemire, Mathieu ; Poon, Audrey H ; Daley, Denise ; He, Jian-Qing ; Sandford, Andrew ; White, John H ; James, Alan L ; Musk, Arthur William ; Palmer, Lyle J ; Raby, Benjamin A ; Weiss, Scott T ; Kozyrskyj, Anita L ; Becker, Allan ; Hudson, Thomas J ; Laprise, CatherineRespiratory research, 2009-10, Vol.10 (1), p.98-98, Article 98 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infectionPark, J E ; Yung, R ; Stefanowicz, D ; Shumansky, K ; Akhabir, L ; Durie, P R ; Corey, M ; Zielenski, J ; Dorfman, R ; Daley, D ; Sandford, A JGenes and immunity, 2011-07, Vol.12 (5), p.370-377 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumCrow, Yanick J ; Marshall, Heather ; Rice, Gillian I ; Seabra, Luis ; Jenkinson, Emma M ; Baranano, Kristin ; Battini, Roberta ; Berger, Andrea ; Blair, Edward ; Blauwblomme, Thomas ; Bolduc, Francois ; Boddaert, Natalie ; Buckard, Johannes ; Burnett, Heather ; Calvert, Sophie ; Caumes, Roseline ; Ng, Andy Cheuk‐Him ; Chiang, Diana ; Clifford, David B ; Cordelli, Duccio M ; Burca, Anna ; Demic, Natasha ; Desguerre, Isabelle ; De Waele, Liesbeth ; Di Fonzo, Alessio ; Dunham, S. Richard ; Dyack, Sarah ; Elmslie, Frances ; Ferrand, Mickaël ; Fisher, Gemma ; Karimiani, Ehsan Ghayoor ; Ghoumid, Jamal ; Gibbon, Frances ; Goel, Himanshu ; Hilmarsen, Hilde T ; Hughes, Imelda ; Jacob, Anu ; Jones, Elizabeth A ; Kumar, Ram ; Leventer, Richard J ; MacDonald, Shelley ; Maroofian, Reza ; Mehta, Sarju G ; Metz, Imke ; Monfrini, Edoardo ; Neumann, Daniela ; Noetzel, Michael ; O'Driscoll, Mary ; Õunap, Katrin ; Panzer, Axel ; Parikh, Sumit ; Prabhakar, Prab ; Ramond, Francis ; Sandford, Richard ; Saneto, Russell ; Soh, Calvin ; Stutterd, Chloe A ; Subramanian, Gopinath M ; Talbot, Kevin ; Thomas, Rhys H ; Toro, Camilo ; Touraine, Renaud ; Wakeling, Emma ; Wassmer, Evangeline ; Whitney, Andrea ; Livingston, John H ; O'Keefe, Raymond T ; Badrock, Andrew PAmerican journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.15-25 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Genetic variation in immune signaling genes differentially expressed in asthmatic lung tissuesTremblay, Karine, MSc ; Daley, Denise, PhD ; Chamberland, Annie, MSc ; Lemire, Mathieu, PhD ; Montpetit, Alexandre, PhD ; Laviolette, Michel, MD ; Musk, Arthur W., MD ; James, Alan L., MD ; Chan-Yeung, Moira, PhD ; Becker, Allan, MD ; Kozyrskyj, Anita L., BScPhm, PhD ; Sandford, Andrew J., PhD ; Hudson, Thomas J., MD ; Paré, Peter D., MD ; Laprise, Catherine, PhDJournal of allergy and clinical immunology, 2008-09, Vol.122 (3), p.529-536.e17 [Periódico revisado por pares]New York, NY: Mosby, IncTexto completo disponível |