Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract von Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile

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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect von Lemmers, Richard J L F, van der Vliet, Patrick J, Granado, David San Leon, van der Stoep, Nienke, Buermans, Henk, van Schendel, Robin, Schimmel, Joost, de Visser, Marianne, van Coster, Rudy, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C, Rogers, Mark, van der Maarel, Silvère M

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds von Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc'h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank M, Cerf-Bensussan, Nadine

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Permanent muscle weakness in MCArdle disease von Nadaj-Pakleza, Aleksandra A., Vincitorio, Carlo M., Laforêt, Pascal, Eymard, Bruno, Dion, Elisabeth, Teijeira, Susana, Vietez, Irene, Jeanpierre, Marc, Navarro, Carmen, Stojkovic, Tanya

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Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy von Van Overveld, Petra G. M., Enthoven, Leo, Ricci, Enzo, Rossi, Monica, Felicetti, Luciano, Jeanpierre, Marc, Winokur, Sara T., Frants, Rune R., Padberg, George W., Van Der Maarel, Silvère M.

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy von Roberds, Steven L., Leturcq, France, Allamand, Valérie, Piccolo, Federica, Jeanpierre, Marc, Anderson, Richard D., Lim, Leland E., Lee, Jane C., Tomé, Fernando M.S., Romero, Norma B., Fardeau, Michel, Beckmann, Jacques S., Kaplan, Jean-Claude, Campbell, Kevin P.

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Involvement of the modifier gene of a human Mendelian disorder in a negative selection process von Jéru, Isabelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Cochet, Emmanuelle, Serre, Jean-Louis, Feingold, Josué, Grateau, Gilles, Sarkisian, Tamara, Jeanpierre, Marc, Amselem, Serge

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FSHD1 and FSHD2 form a disease continuum von Sacconi, Sabrina, Briand-Suleau, Audrey, Gros, Marilyn, Baudoin, Christian, Lemmers, Richard J.L.F, Rondeau, Sophie, Lagha, Nadira, Nigumann, Pilvi, Cambieri, Chiara, Puma, Angela, Chapon, Françoise, Stojkovic, Tanya, Vial, Christophe, Bouhour, Françoise, Cao, Michelangelo, Pegoraro, Elena, Petiot, Philippe, Behin, Anthony, Marc, Bras, Eymard, Bruno, Echaniz-Laguna, Andoni, Laforet, Pascal, Salviati, Leonardo, Jeanpierre, Marc, Cristofari, Gaël, van der Maarel, Silvère M

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TAC3 and TACR3 Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans von Young, Jacques, Bouligand, Jérôme, Francou, Bruno, Raffin-Sanson, Marie-Laure, Gaillez, Stéphanie, Jeanpierre, Marc, Grynberg, Michael, Kamenicky, Peter, Chanson, Philippe, Brailly-Tabard, Sylvie, Guiochon-Mantel, Anne

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Chapter 1 The Inspection Paradox and Whole-Genome Analysis von Jeanpierre, Marc

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The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition von GERBER, Sylvie, ROZET, Jean-Michel, JEANPIERRE, Marc, ROMANA, Serge, FREZAL, Jean, FERRAZ, Fernando, YU-UMESONO, Ruth, MUNNICH, Arnold, KAPLAN, Josseline, TAKEZAWAN, Shin-Ichiro, DOS SANTOS, Luisa Coutinho, LOPES, Lucilia, GRIBOUVAL, Olivier, PENET, Clotilde, PERRAULT, Isabelle, DUCROQ, Dominique, SOUIED, Eric

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Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients von Miniou, Pierre, Jeanpierre, Marc, Blanquet, Véronique, Sibella, Valé rie, Bonneau, Dominique, Herbelin, Catherine, Fischer, Alain, Niveleau, Alain, Viegas-Péquignot, Evani

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A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey von Dincer, Pervin, Leturcq, France, Richard, Isabelle, Piccolo, Federica, Yalnizoàlu, Dilek, De Toma, Claudia, Akçören, Zuhal, Broux, Odile, Deburgrave, Nathalie, Brenguier, Lydie, Roudaut, Carinne, Urtizberea, J. Andoni, Jung, Daniel, Tan, Ersin, Jeanpierre, Marc, Campbell, Kevin P., Kaplan, Jean-Claude, Beckmann, Jacques S., Topaloàlu, Haluk

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Copy number variations and founder effect underlying complete IL-10R[beta] deficiency in Portuguese kindreds von Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc'h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank M, Cerf-Bensussan, Nadine

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds von Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jeremie, Bustamante, Jacinta, Le Lorc'H, Marc, Pigneur, Benedicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank, Cerf-Bensussan, Nadine

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Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy von Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, Sacconi, Sabrina

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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia von Michot, Caroline, Hubert, Laurence, Romero, Norma B., Gouda, Amr, Mamoune, Asmaa, Mathew, Suja, Kirk, Edwin, Viollet, Louis, Rahman, Shamima, Bekri, Soumeya, Peters, Heidi, McGill, James, Glamuzina, Emma, Farrar, Michelle, von der Hagen, Maya, Alexander, Ian E., Kirmse, Brian, Barth, Magalie, Laforet, Pascal, Benlian, Pascale, Munnich, Arnold, JeanPierre, Marc, Elpeleg, Orly, Pines, Ophry, Delahodde, Agnès, de Keyzer, Yves, de Lonlay, Pascale

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Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island von Moulard, Bruno, Darcel, Françoise, Mignard, Didier, Jeanpierre, Marc, Genton, Pierre, Cartault, François, Yaouanq, Jacqueline, Roubertie, Agathe, Biraben, Arnaud, Buresi, Catherine, Malafosse, Alain

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Mutation History of the Roma/Gypsies von Morar, Bharti, Gresham, David, Angelicheva, Dora, Tournev, Ivailo, Gooding, Rebecca, Guergueltcheva, Velina, Schmidt, Carolin, Abicht, Angela, Lochmüller, Hanns, Tordai, Attila, Kalmár, Lajos, Nagy, Melinda, Karcagi, Veronika, Jeanpierre, Marc, Herczegfalvi, Agnes, Beeson, David, Venkataraman, Viswanathan, Warwick Carter, Kim, Reeve, Jeff, de Pablo, Rosario, Kučinskas, Vaidutis, Kalaydjieva, Luba

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An ancient founder mutation in PROKR2 impairs human reproduction von AVBELJ STEFANIJA, Magdalena, JEANPIERRE, Marc, FLOREZ, Jose C, CHEETHAM, Timothy, PEARCE, Simon H, PURUSHOTHAMAN, Radhika, SCHINZEL, Albert, PUGEAT, Michel, JACOBSON-DICKMAN, Elka E, TEN, Svetlana, CLAUDIA LATRONICO, Ana, GUSELLA, James F, SYKIOTIS, Gerasimos P, DODE, Catherine, CROWLEY, William F, PITTELOUD, Nelly, YOUNG, Jacques, QUINTON, Richard, PAULA ABREU, Ana, PLUMMER, Lacey, AU, Margaret G, BALASUBRAMANIAN, Ravikumar, DWYER, Andrew A

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