Результаты поиска - Manuela Morleo

  • Отображение 1 - 12 результаты of 12
Отмена результатов
  1. 1
    Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

    Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders по Manuela Morleo, Brunella Franco

    Опубликовано 2008
    Полный текст Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  2. 2
    Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

    Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome по Isabella Wimplinger, Manuela Morleo, Georg Rosenberger, Daniela Iaconis, Ulrike Orth, Peter Meinecke, Israela Lerer, Andrea Ballabio, Andreas Gal, Brunella Franco, Kerstin Kutsche

    Опубликовано 2006
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  3. 3
    Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

    Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators по Yangfan P. Liu, I-Chun Tsai, Manuela Morleo, Edwin C. Oh, Carmen C. Leitch, Filomena Massa, Byung‐Hoon Lee, D. S. Parker, Daniel Finley, Norann A. Zaghloul, Brunella Franco, Nicholas Katsanis

    Опубликовано 2014
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  4. 4
    Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

    Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease по Alessia Indrieri, Vanessa A. van Rahden, Valeria Tiranti, Manuela Morleo, Daniela Iaconis, Roberta Tammaro, Ilaria D’Amato, Iván Conte, Isabelle Maystadt, Stephanie Demuth, Alex Zvulunov, Kerstin Kutsche, Massimo Zeviani, Brunella Franco

    Опубликовано 2012
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  5. 5
    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations по Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, Øyvind L. Busk, Philippe M. Campeau, Valeria Capra, Colleen M. Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton‐Smith, Michael J. Bamshad, Dawn Earl, Laurence Faivre, Christophe Philippe, Patrick Ferreira, Luitgard Graul‐Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Kalinauskiene, Catherine Melver, Kimberly S. McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda Openshaw, Janice C. Palumbos, Aditi Shah Parikh, Yezmin Perilla‐Young, Cynthia M. Powell, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey‐Gaut, Deborah Shears, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Tzung‐Chien Hsieh, Keri Ramsey, Angela Peron, Andrea Accogli, Valeria Capra, Manuela Morleo, Marcello Scala, Marcella Zollino, Bert B.A. de Vries, François Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

    Опубликовано 2024
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  6. 6
    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes по German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez-Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, Rita Horváth, Michele Pinelli, Nienke J.H. van Os, Bart P.C. van de Warrenburg, Anne‐Sophie Denommé‐Pichon, Marco Savarese, Mridul Johari, Bruno Dallapiccola, Marco Tartaglia, Martje G. Pauly, Anna Katharina Sommer, Tobias B. Haack, Ana Töpf, Didier Lacombe, Chiara Fallerini, Alessandra Renieri, Patrick F. Chinnery, Daniel Natera‐de Benito, A. Nascimento, Aurélien Trimouille, Francina Munell, Anna Marcé‐Grau, Ben Yaou Rabah, Gisèle Bonne, Liedewei Van de Vondel, Katja Lohmann, Stephan Ossowski

    Опубликовано 2024
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  7. 7
    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes по Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thévenon, Laurence Jego, Estelle Lopez, Jean‐François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Bürglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert‐Dussardier, Bruno Reversade, Elisabeth Steichen‐Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie M.H.F. Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St‐Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier‐Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz‐Pérez, Jaclyn S. Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attié‐Bitach, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    Опубликовано 2017
    Полный текст Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  8. 8
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis по Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    Опубликовано 2023
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  9. 9
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data по Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    Опубликовано 2021
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  10. 10
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms по Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson

    Опубликовано 2016
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  11. 11
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome по Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Опубликовано 2022
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  12. 12
    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features по Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi

    Опубликовано 2023
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:

Инструменты поиска: