Search Results - Loreto Martorell

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  1. 1
    Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

    Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients by Loreto Martorell

    Published 1998
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  2. 2
    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas by Patricia Sarrión, Anna Sangorrin, Roser Urreizti, María Andrea Delgado, Rafael Artuch, Loreto Martorell, Judith Armstrong, Jordi Antón, Ferrán Torner, Marina Vilaseca, Julián Nevado, Pablo Lapunzina, Carla Asteggiano, Susana Balcells, Daniel Grinberg

    Published 2013
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  3. 3
    Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

    Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation by Esperón-Moldes, Uxia, Ginarte-Val, Manuel, Rodríguez-Pazos, Laura, Fachal, Laura, Martín-Santiago, Ana, Vicente, Asunción, Jiménez-Gallo, David, Guillén-Navarro, Encarna, Sampol, Loreto Martorell, González-Enseñat, María Antonia, Vega, Ana

    Published 2020
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  4. 4
    AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

    AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission by Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson, Montserrat Naudó, Jordi Genovès, Alessandra Murgia, Roberta Polli, Lili Zhou, Deborah Barbouth, Abigail Rupchock, Brenda Finucane, Gary J. Latham, Andrew G. Hadd, Elizabeth Berry‐Kravis, Flora Tassone

    Published 2014
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  5. 5
    Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

    Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation by Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá-Mora, Jaume, Giorda, Roberto, Heckenlively, John R., Hufnagel, Robert B., Jacobson, Samuel G., Kellner, Ulrich, Kitsiou-Tzeli, Sofia, Matet, Alexandre, Sampol, Loreto Martorell, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne

    Published 2019
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  6. 6
    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity by Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O’Roak, Dana Knutzen, Tessa Rue, Gisele E. Ishak, Christine R. Isabella, Nicholas T. Gorden, Jonathan Adkins, E A Boyle, Nathan Lacy, Diana R. O’Day, Abdulrahman Alswaid, Radha Ramadevi A, Lokesh Lingappa, Charles Marques Lourenço, Loreto Martorell, Ángeles García‐Cazorla, Hamìt Özyürek, Göknur Haliloğlu, Beyhan Tüysüz, Meral Topçu, P. F. Chance, Melissa A. Parisi, Ian Glass, Jay Shendure, Dan Doherty

    Published 2015
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  7. 7
    Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation t... by Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo, Marta Gil, Ignacio Bernabéu, José M Díaz-Grande, Lourdes Rey‐Cordo, Gema Ariceta, Itxaso Rica, José Luis Gálvez-Nieto, Ramón Vilalta, Loreto Martorell, Jaime Vila-Cots, F. Aleixandre, Ana Fontalba, Leandro Soriano‐Guillén, José Miguel García‐Sagredo, Sixto García‐Miñaúr, Berta Rodríguez, Saioa Juaristi, Carmen García-Pardos, Antonio Martínez-Peinado, José M. Millán, Ana Medeira, Oana Moldovan, Angeles Fernandez, Lourdes Loidi

    Published 2011
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  8. 8
    Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

    Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 by Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine Le Merrer, Geneviève Guest, Karen Lambot, Marie-Frederique Tazarourte-Pinturier, Nicolas Chassaing, Olivier Roche, Ilse Feenstra, Karen J. Loechner, Charu Deshpande, Samuel J. Garber, Rashmi Chikarmane, Beat Steinmann, Tatevik Shahinyan, Loreto Martorell, Justin H. Davies, Wendy E. Smith, Stephen G. Kahler, Mignon McCulloch, Elizabeth Wraige, Lourdes Loidi, Wolfgang Höhne, Ludovic Martin, S. Hadj‐Rabia, Robert Terkeltaub, Frank Rutsch

    Published 2011
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  9. 9
    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations by Nicole Revençu, Laurence M. Boon, John B. Mulliken, O Enjolras, Maria Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulàlia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria C. Garzón, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, I. Quéré, Dawn H. Siegel, Enza Maria Valente, Annet van Hagen, Liselot van Hest, Keith K. Vaux, Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula

    Published 2008
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  10. 10
    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients by Crystel Bonnet, Zied Riahi, Sandra Chantot‐Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, G. Lefèvre, Jean‐Pierre Hardelin, A. Amraoui, Amrit Singh‐Estivalet, Saddek Mohand‐Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraitytė, Ditta Zobor, Souad Gherbi, Francesco Testa, Francesca Simonelli, Sandro Banfi, Ana Fakin, Damjan Glavač, Martina Jarc-Vidmar, Andrej Zupan, Saba Battelino, Loreto Martorell, M.A. Clavería, Jaume Catalá‐Mora, Shzeena Dad, Lisbeth Birk Møller, Jesus Rodriguez Jorge, Marko Hawlina, Alberto Auricchio, José‐Alain Sahel, Sandrine Marlin, Eberhart Zrenner, Isabelle Audo, Christine Petit

    Published 2016
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  11. 11
    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction by Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, P. V. R. SHANNON, David Chitayat, Francesca Magrinelli, Wesley Peng, Diptaman Chatterjee, Sara H. El‐Dessouky, Júlia Baptista, Tamás Marton, Julie Vogt, Juan Darío Ortigoza‐Escobar, Loreto Martorell, Marta Gómez‐Chiari, Ingrid M. Wentzensen, Erik‐Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair N. Al‐Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

    Published 2025
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  12. 12
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling by Mustapha Amyere, Nicole Revençu, Raphaël Helaers, Eleonore Pairet, Eulàlia Baselga, Maria Cordisco, Wendy K. Chung, Josée Dubois, J.‐P. Lacour, Loreto Martorell, J. Mazereeuw‐Hautier, Reed E. Pyeritz, David J. Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, A. Dompmartin, David G. Brooks, Juliette Dupont, María Antonia González-Enseñat, Ilona J. Frieden, Marion Gérard, Malin Kvarnung, Andrea Hanson‐Kahn, Louanne Hudgins, C. Léauté‐Labrèze, Catherine McCuaïg, Denise W. Metry, P. Parent, C. Paul, Florence Petit, Alice Phan, I. Quéré, Aïcha Salhi, Anne Turner, P. Vabres, Asunción Vicente, Orli Wargon, Shôji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B. Mulliken, Laurence M. Boon, Miikka Vikkula

    Published 2017
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  13. 13
    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia

    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia by Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andréasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David G. Birch, Pierre Bitoun, Delphine Blain, Béatrice Bocquet, Kari Branham, Jaume Catalá‐Mora, Elfride De Baere, Hélène Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irène Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Webb-Jones, Herbert Jägle, Andreas Janecke, Ulrich Kellner, Petra Lišková, Birgit Lorenz, Loreto Martorell, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy de Ravel, Charlotte Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, R. Salati, Emin Cumhur Şener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsányi, Richard G. Weleber, Ditta Zobor, Katarína Štingl, Bernd Wissinger, Susanne Kohl

    Published 2022
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  14. 14
    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation by Nicole Revençu, Laurence M. Boon, Antonella Mendola, Maria Cordisco, Josée Dubois, Philippe Clapuyt, Frank Hammer, David J. Amor, Alan D. Irvine, Eulàlia Baselga, A. Dompmartin, Samira Syed, A. Martín‐Santiago, Lesley C. Adès, Felicity Collins, Janine Smith, Sarah A. Sandaradura, Victoria R. Barrio, Patricia E. Burrows, Francine Blei, Mariarosaria Cozzolino, Nicola Brunetti‐Pierri, Asunción Vicente, Marc Abramowicz, Julie Désir, Catheline Vilain, Wendy K. Chung, Ashley Wilson, Carol Gardiner, Yim Dwight, David Lord, Leona Fishman, Cheryl Cytrynbaum, Sarah L. Chamlin, Fred Ghali, Yolanda Gilaberte, Shelagh Joss, María del Carmen Boente, C. Léauté‐Labrèze, Marie-Ange Delrue, Susan Bayliss, Loreto Martorell, Maria-Antonia González-Enseñat, J. Mazereeuw‐Hautier, Brid O’Donnell, D. Bessis, Reed E. Pyeritz, Aïcha Salhi, Oon Tian Tan, Orli Wargon, John B. Mulliken, Miikka Vikkula

    Published 2013
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  15. 15
    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder by W. G. Leen, Jörg Klepper, Marcel M. Verbeek, Maike Leferink, Tom Hofste, Baziel G.M. van Engelen, Ron A. Wevers, Todd M. Arthur, Nadia Bahi‐Buisson, Diana Ballhausen, Jolita Bekhof, Patrick Van Bogaert, Inês Carrilho, B. Chabrol, Mike Champion, James G. Coldwell, Peter T. Clayton, Elizabeth Donner, Athanasios Evangeliou, Friedrich Ebinger, K Farrell, Rob Forsyth, Christian G E L De Goede, S. Groß, Stephanie Grünewald, Hans Holthausen, Sandeep Jayawant, Katherine Lachlan, Vincent Laugel, Kathleen A. Leppig, Ming Lim, G.M.S. Mancini, Adela Della Marina, Loreto Martorell, Joe McMenamin, Marije Meuwissen, Helen Mundy, Nils‐Otto Nilsson, Axel Panzer, Bwee Tien Poll‐The, C. Rauscher, C. M. R. Rouselle, Inger Sandvig, T Scheffner, E. Sheridan, N. B. Simpson, Peter Sýkora, RJ Tomlinson, J Q Trounce, David Webb, Bernhard Weschke, Hans Scheffer, Michèl A.A.P. Willemsen

    Published 2010
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  16. 16
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients by Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    Published 2010
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  17. 17
    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu, Marta Del Pozo‐Valero, Berta Almoguera, Fiona Blanco‐Kelly, Ester Carreño, Belén Jimenez‐Rolando, Rosario López‐Rodríguez, Isabel Lorda‐Sánchez, Inmaculada Martín-Mérida, Lucía Pérez de Ayala, Rosa Riveiro-Álvarez, Elvira Rodríguez‐Pinilla, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Ana Bustamante‐Aragonés, Rocio Cardero‐Merlo, Ruth Fernández‐Sánchez, J. Gallego‐Merlo, Ines Garcia-Vara, Ascensión Gimenez-Pardo, Laura Horcajada-Burgos, Fernando Infantes‐Barbero, Esther Lantero, Miguel Ángel López-Martínez, Andrea Martínez‐Ramas, Lorena Ondo, Marta Rodríguez de Alba, C. Sánchez-Jimeno, C. Vélez-Monsalve, Cristina Villaverde, Olga Zurita, Domingo Aguilera‐Garcia, Jana Aguirre-Lambán, Ana Arteche‐López, Diego Cantalapiedra, Patrícia José, Liliana Galbis-Martinez, Maria García‐Hoyos, Carlos Lombardia, María Isabel López-Molina, Raquel Pérez-Carro, Luciana Rodrigues Jacy da Silva, Carmen Ramos, Rocío Sánchez-Alcudia, Iker Sánchez‐Navarro, Sorina D. Tatu, Elena Vallespín, Elena Aller, Sara Bernal, Maria J. Gamundi, Gema García‐García, Inmaculada Hernan, Teresa Jaijo, Guillermo Antiñolo, Montserrat Baiget, Miguel Carballo, José M. Millán, Diana Valverde, Rando Allikmets, Sandro Banfi, Frans P.M. Cremers, Rob W.J. Collin, Elfride De Baere, Hákon Hákonarson, Susanne Kohl, Carlo Rivolta, Dror Sharon, María Concepción Alonso‐Cerezo, María Juliana Ballesta‐Martínez, Sergi Beltrán, Carmen Benito López, Jaume Catalá‐Mora, Claudio Catalli, Carmen Cotarelo-Pérez, Miguel Fernández‐Burriel, Ana Fontalba-Romero, Enrique Galán‐Gómez, María García‐Barcina, Loida M. Garcia-Cruz, Blanca Gener, Belén Gil-Fournier, Nancy Govea, Encarna Guillén‐Navarro, I. Hernando Acero, Cristina Irigoyen, Silvia Izquierdo Álvarez, Isabel Llano‐Rivas, Maria A. López-Ariztegui, Vanesa López‐González, Fermina Lopez-Grondona, Loreto Martorell, Pilar Mendez-Perez, María Moreno‐Igoa, Raluca Oancea-Ionescu, Francesc Palau, Guiomar Pérez de Nanclares, Feliciano J. Ramos-Fuentes, Raquel Rodríguez‐López

    Published 2021
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