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Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault SyndromePierce, Sarah B. ; Gersak, Ksenija ; Michaelson-Cohen, Rachel ; Walsh, Tom ; Lee, Ming K. ; Malach, Daniel ; Klevit, Rachel E. ; King, Mary-Claire ; Levy-Lahad, EphratAmerican journal of human genetics, 2013-04, Vol.92 (4), p.614-620 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered ProteaseJenkinson, Emma M. ; Rehman, Atteeq U. ; Walsh, Tom ; Clayton-Smith, Jill ; Lee, Kwanghyuk ; Morell, Robert J. ; Drummond, Meghan C. ; Khan, Shaheen N. ; Naeem, Muhammad Asif ; Rauf, Bushra ; Billington, Neil ; Schultz, Julie M. ; Urquhart, Jill E. ; Lee, Ming K. ; Berry, Andrew ; Hanley, Neil A. ; Mehta, Sarju ; Cilliers, Deirdre ; Clayton, Peter E. ; Kingston, Helen ; Smith, Miriam J. ; Warner, Thomas T. ; Black, Graeme C. ; Trump, Dorothy ; Davis, Julian R.E. ; Ahmad, Wasim ; Leal, Suzanne M. ; Riazuddin, Sheikh ; King, Mary-Claire ; Friedman, Thomas B. ; Newman, William G.American journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical BlindnessPerrault, Isabelle ; Hamdan, Fadi F. ; Rio, Marlène ; Capo-Chichi, José-Mario ; Boddaert, Nathalie ; Décarie, Jean-Claude ; Maranda, Bruno ; Nabbout, Rima ; Sylvain, Michel ; Lortie, Anne ; Roux, Philippe P. ; Rossignol, Elsa ; Gérard, Xavier ; Barcia, Giulia ; Berquin, Patrick ; Munnich, Arnold ; Rouleau, Guy A. ; Kaplan, Josseline ; Rozet, Jean-Michel ; Michaud, Jacques L.American journal of human genetics, 2014-06, Vol.94 (6), p.891-897 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 MutationsPerrault, Isabelle ; Saunier, Sophie ; Hanein, Sylvain ; Filhol, Emilie ; Bizet, Albane A. ; Collins, Felicity ; Salih, Mustafa A.M. ; Gerber, Sylvie ; Delphin, Nathalie ; Bigot, Karine ; Orssaud, Christophe ; Silva, Eduardo ; Baudouin, Véronique ; Oud, Machteld M. ; Shannon, Nora ; Le Merrer, Martine ; Roche, Olivier ; Pietrement, Christine ; Goumid, Jamal ; Baumann, Clarisse ; Bole-Feysot, Christine ; Nitschke, Patrick ; Zahrate, Mohammed ; Beales, Philip ; Arts, Heleen H. ; Munnich, Arnold ; Kaplan, Josseline ; Antignac, Corinne ; Cormier-Daire, Valérie ; Rozet, Jean-MichelAmerican journal of human genetics, 2012-05, Vol.90 (5), p.864-870 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotypeSenum, Sarah R. ; Li, Ying (Sabrina) M. ; Benson, Katherine A. ; Joli, Giancarlo ; Olinger, Eric ; Lavu, Sravanthi ; Madsen, Charles D. ; Gregory, Adriana V. ; Neatu, Ruxandra ; Kline, Timothy L. ; Audrézet, Marie-Pierre ; Outeda, Patricia ; Nau, Cherie B. ; Meijer, Esther ; Ali, Hamad ; Steinman, Theodore I. ; Mrug, Michal ; Phelan, Paul J. ; Watnick, Terry J. ; Peters, Dorien J.M. ; Ong, Albert C.M. ; Conlon, Peter J. ; Perrone, Ronald D. ; Cornec-Le Gall, Emilie ; Hogan, Marie C. ; Torres, Vicente E. ; Sayer, John A. ; Harris, Peter C.American journal of human genetics, 2022-01, Vol.109 (1), p.136-156 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyCogné, Benjamin ; Latypova, Xenia ; Senaratne, Lokuliyanage Dona Samudita ; Martin, Ludovic ; Koboldt, Daniel C. ; Kellaris, Georgios ; Fievet, Lorraine ; Le Meur, Guylène ; Caldari, Dominique ; Debray, Dominique ; Nizon, Mathilde ; Frengen, Eirik ; Bowne, Sara J. ; Buckley, Reuben M. ; Aberdein, Danielle ; Alves, Paulo C. ; Barsh, Gregory S. ; Bellone, Rebecca R. ; Bergström, Tomas F. ; Boyko, Adam R. ; Brockman, Jeffrey A. ; Casal, Margret L. ; Castelhano, Marta G. ; Distl, Ottmar ; Dodman, Nicholas H. ; Ellinwood, N. Matthew ; Fogle, Jonathan E. ; Forman, Oliver P. ; Garrick, Dorian J. ; Ginns, Edward I. ; Häggström, Jens ; Harvey, Robert J. ; Hasegawa, Daisuke ; Haase, Bianca ; Helps, Christopher R. ; Hernandez, Isabel ; Hytönen, Marjo K. ; Kaukonen, Maria ; Kaelin, Christopher B. ; Kosho, Tomoki ; Leclerc, Emilie ; Lear, Teri L. ; Leeb, Tosso ; Li, Ronald H.L. ; Lohi, Hannes ; Longeri, Maria ; Magnuson, Mark A. ; Malik, Richard ; Mane, Shrinivas P. ; Munday, John S. ; Murphy, William J. ; Pedersen, Niels C. ; Rothschild, Max F. ; Rusbridge, Clare ; Shapiro, Beth ; Stern, Joshua A. ; Swanson, William F. ; Terio, Karen A. ; Todhunter, Rory J. ; Warren, Wesley C. ; Wilcox, Elizabeth A. ; Wildschutte, Julia H. ; Yu, Yoshihiko ; Cadena, Elizabeth L. ; Daiger, Stephen P. ; Bujakowska, Kinga M. ; Pierce, Eric A. ; Gorin, Michael ; Katsanis, Nicholas ; Bézieau, Stéphane ; Petersen-Jones, Simon M. ; Occelli, Laurence M. ; Lyons, Leslie A. ; Legeai-Mallet, Laurence ; Sullivan, Lori S. ; Davis, Erica E. ; Isidor, BertrandAmerican journal of human genetics, 2020-06, Vol.106 (6), p.893-904 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel SyndromeBaala, Lekbir ; Audollent, Sophie ; Martinovic, Jéléna ; Ozilou, Catherine ; Babron, Marie-Claude ; Sivanandamoorthy, Sivanthiny ; Saunier, Sophie ; Salomon, Rémi ; Gonzales, Marie ; Rattenberry, Eleanor ; Esculpavit, Chantal ; Toutain, Annick ; Moraine, Claude ; Parent, Philippe ; Marcorelles, Pascale ; Dauge, Marie-Christine ; Roume, Joëlle ; Merrer, Martine Le ; Meiner, Vardiella ; Meir, Karen ; Menez, Françoise ; Beaufrère, Anne-Marie ; Francannet, Christine ; Tantau, Julia ; Sinico, Martine ; Dumez, Yves ; MacDonald, Fiona ; Munnich, Arnold ; Lyonnet, Stanislas ; Gubler, Marie-Claire ; Génin, Emmanuelle ; Johnson, Colin A. ; Vekemans, Michel ; Encha-Razavi, Férechté ; Attié-Bitach, TaniaAmerican journal of human genetics, 2007-07, Vol.81 (1), p.170-179 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosisden Hollander, Anneke I. ; Koenekoop, Robert K. ; Yzer, Suzanne ; Lopez, Irma ; Arends, Maarten L. ; Voesenek, Krysta E.J. ; Zonneveld, Marijke N. ; Strom, Tim M. ; Meitinger, Thomas ; Brunner, Han G. ; Hoyng, Carel B. ; van den Born, L. Ingeborgh ; Rohrschneider, Klaus ; Cremers, Frans P.M.American journal of human genetics, 2006-09, Vol.79 (3), p.556-561 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis PigmentosaCollin, Rob W.J. ; Littink, Karin W. ; Klevering, B. Jeroen ; van den Born, L. Ingeborgh ; Koenekoop, Robert K. ; Zonneveld, Marijke N. ; Blokland, Ellen A.W. ; Strom, Tim M. ; Hoyng, Carel B. ; den Hollander, Anneke I. ; Cremers, Frans P.M.American journal of human genetics, 2008-11, Vol.83 (5), p.594-603 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone DystrophyWilkie, Susan E. ; Li, Yang ; Deery, Evelyne C. ; Newbold, Richard J. ; Garibaldi, Daniel ; Bateman, J. Bronwyn ; Zhang, Heidi ; Lin, Wei ; Zack, Donald J. ; Bhattacharya, Shomi S. ; Warren, Martin J. ; Hunt, David M. ; Zhang, KangAmerican journal of human genetics, 2001-09, Vol.69 (3), p.471-480 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |