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收藏Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
Capri, Yline; Kwon, Theresa; Boyer, Olivia; Bourmance, Lucas; Testa, Noe; Baudouin, Veronique; Bonnefoy, Ronan; Couderc, Anne; Meziane, Chakib; Tournier-Lasserve, Elisabeth; Heidet, Laurence; Melki, Judith 分享 收藏 New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathwaysCharvet, Claude; Houbron, Christophe; Parlakian, Ara; Giordani, Julien; Lahoute, Charlotte; Bertrand, Anne; Sotiropoulos, Athanassia; Renou, Laure; Schmitt, Alain; Melki, Judith; Li, Zhenlin; Daegelen, Dorninique; Tuil, David 分享 收藏 The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersSaffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza 分享 收藏 Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita未诊断的多发性先天性关节畸形的表型谱和基因组学Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith 分享 收藏 De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypesSCN1A的从头突变是关节软化扩大SCN1A-related表型的原因Jaber, Dana; Gitiaux, Cyril; Blesson, Sophie; Marguet, Florent; Buard, David; Salgado, Maritzaida Varela; Kaminska, Anna; Saada, Julien; Fallet-Bianco, Catherine; Martinovic, Jelena; Laquerriere, Annie; Melki, Judith 分享 收藏 Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Habes, Dalila; Jardel, Claude; Labarthe, Francois; Levy, Jonathan; Lombes, Anne; Mehler-Jacob, Claire; Melki, Judith; Menvielle, Laura; Munnich, Arnold; Mussini, Charlotte; Pichard, Samia; Rio, Marlene; Rotig, Agnes; Sissaoui, Samira; Slama, Abdelhamid; Miethke, Alexander G.; Schiff, Manuel 分享 收藏 A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingKrahn, Martin; Biancalana, Valerie; Cerino, Mathieu; Perrin, Aurelien; Michel-Calemard, Laurence; Nectoux, Juliette; Leturcq, France; Bouchet-Seraphin, Celine; Acquaviva-Bourdain, Cecile; Campana-Salort, Emmanuelle; Molon, Annamaria; Urtizberea, Jon Andoni; Audic, Frederique; Chabrol, Brigitte; Pouget, Jean; Froissart, Roseline; Melki, Judith; Rendu, John; Petit, Francois; Metay, Corinne; Seta, Nathalie; Sternberg, Damien; Faure, Julien; Cossee, Mireille 分享 收藏 A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formationKauskot, Alexandre; Pascreau, Tiffany; Adam, Frederic; Bruneel, Arnaud; Reperant, Christelle; Lourenco-Rodrigues, Marc-Damien; Rosa, Jean-Philippe; Petermann, Rachel; Maurey, Helene; Auditeau, Claire; Lasne, Dominique; Denis, Cecile V.; Bryckaert, Marijke; de Lonlay, Pascale; Lavenu-Bombled, Cecile; Melki, Judith; Borgel, Delphine 分享 收藏 Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformationVivanti, Alexandre; Ozanne, Augustin; Grondin, Cynthia; Saliou, Guillaume; Quevarec, Loic; Maurey, Helene; Aubourg, Patrick; Benachi, Alexandra; Gut, Marta; Gut, Ivo; Martinovic, Jelena; Senat, Marie Victoire; Tawk, Marcel; Melki, Judith 分享 收藏 CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysLegendre, Marine; Rodriguez-Ballesteros, Montserrat; Rossi, Massimiliano; Abadie, Veronique; Amiel, Jeanne; Revencu, Nicole; Blanchet, Patricia; Brioude, Frederic; Delrue, Marie-Ange; Doubaj, Yassamine; Sefiani, Abdelaziz; Francannet, Christine; Holder-Espinasse, Muriel; Jouk, Pierre-Simon; Julia, Sophie; Melki, Judith; Mur, Sebastien; Naudion, Sophie; Fabre-Teste, Jennifer; Busa, Tiffany; Stamm, Stephen; Lyonnet, Stanislas; Attie-Bitach, Tania; Kitzis, Alain; Gilbert-Dussardier, Brigitte; Bilan, Frederic 分享 收藏 Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposisAbiusi, Emanuela; D'Alessandro, Manuela; Dieterich, Klaus; Quevarec, Loic; Turczynski, Sandrina; Valfort, Aurore-Cecile; Mezin, Paulette; Jouk, Pierre Simon; Gut, Marta; Gut, Ivo; Bessereau, Jean Louis; Melki, Judith 分享 收藏 Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaXue, Shifeng; Maluenda, Jerome; Marguet, Florent; Shboul, Mohammad; Quevarec, Loic; Bonnard, Carine; Ng, Alvin Yu Jin; Tohari, Sumanty; Thong Teck Tan; Kong, Mung Kei; Monaghan, Kristin G.; Cho, Megan T.; Siskind, Carly E.; Sampson, Jacinda B.; Rocha, Carolina Tesi; Alkazaleh, Fawaz; Gonzales, Marie; Rigonnot, Luc; Whalen, Sandra; Gut, Marta; Gut, Ivo; Bucourt, Martine; Venkatesh, Byrappa; Laquerriere, Annie; Reversade, Bruno; Melki, Judith 分享 收藏 Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal ArthrogryposisMaluenda, Jerome; Manso, Constance; Quevarec, Loic; Vivanti, Alexandre; Marguet, Florent; Gonzales, Marie; Guimiot, Fabien; Petit, Florence; Toutain, Annick; Whalen, Sandra; Grigorescu, Romulus; Coeslier, Anne Dieux; Gut, Marta; Gut, Ivo; Laquerriere, Annie; Devaux, Jerome; Melki, Judith 分享 收藏 Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe ArthrogryposisMejlachowicz, Dan; Nolent, Flora; Maluenda, Jerome; Ranjatoelina-Randrianaivo, Hanitra; Giuliano, Fabienne; Gut, Ivo; Sternberg, Damien; Laquerriere, Annie; Melki, Judith 分享 收藏 Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex CongenitaGPR126的突变是造成严重的先天性多发性关节病的原因Ravenscroft, Gianina; Nolent, Flora; Rajagopalan, Sulekha; Meireles, Ana M.; Paavola, Kevin J.; Gaillard, Dominique; Alanio, Elisabeth; Buckland, Michael; Arbuckle, Susan; Krivanek, Michael; Maluenda, Jerome; Pannell, Stephen; Gooding, Rebecca; Ong, Royston W.; Allcock, Richard J.; Carvalho, Ellaine D. F.; Carvalho, Maria D. F.; Kok, Fernando; Talbot, William S.; Melki, Judith; Laing, Nigel G. 分享 收藏 Early-onset chronic axonal neuropathy, strokes, and hemolysis Inherited CD59 deficiencyHaliloglu, Goknur; Maluenda, Jerome; Sayinbatur, Bahattin; Aumont, Cedric; Temucin, Cagri; Tavil, Betul; Cetin, Mualla; Oguz, Kader K.; Gut, Ivo; Picard, Veronique; Melki, Judith; Topaloglu, Haluk 分享 收藏 An Atypical Human Induced Pluripotent Stem Cell Line With a Complex, Stable, and Balanced Genomic Rearrangement Including a Large De Novo 1q Uniparental DisomySteichen, Clara; Maluenda, Jerome; Tosca, Lucie; Luce, Eleanor; Pineau, Dominique; Dianat, Noushin; Hannoun, Zara; Tachdjian, Gerard; Melki, Judith; Dubart-Kupperschmitt, Anne 分享 收藏 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy (vol 124, pg 4693, 2014)Yuen, Michaela; Sandaradura, Sarah A.; Dowling, James J.; Kostyukova, Alla S.; Moroz, Natalia; Quinlan, Kate G.; Lehtokari, Vilma-Lotta; Ravenscroft, Gianina; Todd, Emily J.; Ceyhan-Birsoy, Ozge; Gokhin, David S.; Maluenda, Jerome; Lek, Monkol; Nolent, Flora; Pappas, Christopher T.; Novak, Stefanie M.; D'Amico, Adele; Malfatti, Edoardo; Thomas, Brett P.; Gabriel, Stacey B.; Gupta, Namrata; Daly, Mark J.; Ilkovski, Biljana; Houweling, Peter J.; Davidson, Ann E.; Swanson, Lindsay C.; Brownstein, Catherine A.; Gupta, Vandana A.; Medne, Livija; Shannon, Patrick; Martin, Nicole; Bick, David P.; Flisberg, Anders; Holmberg, Eva; Van den Bergh, Peter; Lapunzina, Pablo; Waddell, Leigh B.; Sloboda, Darcee D.; Bertini, Enrico; Chitayat, David; Telfer, William R.; Laquerriere, Annie; Gregorio, Carol C.; Ottenheijm, Coen A. C.; Boennemann, Carsten G.; Pelin, Katarina; Beggs, Alan H.; Hayashi, Yukiko K.; Romero, Norma B.; Laing, Nigel G.; Nishino, Ichizo; Wallgren-Pettersson, Carina; Melki, Judith; Fowler, Velia M.; MacArthur, Daniel G.; North, Kathryn N.; Clarke, Nigel F. 分享 收藏 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyYuen, Michaele; Sandaradura, Sarah A.; Dowling, James J.; Kostyukova, Alla S.; Moroz, Natalia; Quinlan, Kate G.; Lehtokari, Vilma-Lotta; Ravenscroft, Gianina; Todd, Emily J.; Ceyhan-Birsoy, Ozge; Gokhin, David S.; Maluenda, Jerome; Lek, Monkol; Nolent, Flora; Pappas, Christopher T.; Novak, Stefanie M.; D'Amico, Adele; Malfatti, Edoardo; Thomas, Brett P.; Gabriel, Stacey B.; Gupta, Namrata; Daly, Mark J.; Ilkovski, Biljana; Houweling, Peter J.; Davidson, Ann E.; Swanson, Lindsay C.; Brownstein, Catherine A.; Gupta, Vandana A.; Medne, Livija; Shannon, Patrick; Martin, Nicole; Bick, David P.; Flisberg, Anders; Holmberg, Eva; Van den Bergh, Peter; Lapunzina, Pablo; Waddell, Leigh B.; Sioboda, Darcee D.; Bertini, Enrico; Chitayat, David; Telfer, William R.; Laquerriere, Annie; Gregorio, Carol C.; Ottenheijm, Coen A. C.; Boennemann, Carsten G.; Pelin, Katarina; Beggs, Alan H.; Hayashi, Yukiko K.; Romero, Norma B.; Laing, Nigel G.; Nishino, Ichizo; Wallgren-Pettersson, Carina; Melki, Judith; Fowler, Velia M.; MacArthur, Daniel G.; North, Kathryn N.; Clarke, Nigel F. 分享 收藏 
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