Hakutulokset - Emmanuelle Ranza

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  1. 1
    Focal cortical malformations in children with early infantile epilepsy and <i><scp>PCDH</scp>19</i> mutations: case report

    Focal cortical malformations in children with early infantile epilepsy and <i><scp>PCDH</scp>19</i> mutations: case report Tekijä Mary Kurian, Christian Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R. Nordli, Thomas Bast

    Julkaistu 2017
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  2. 2
    Growth Arrest Specific Gene 6 Protein Concentration in Cerebrospinal Fluid Correlates with Relapse Severity in Multiple Sclerosis

    Growth Arrest Specific Gene 6 Protein Concentration in Cerebrospinal Fluid Correlates with Relapse Severity in Multiple Sclerosis Tekijä Pier Paolo Sainaghi, Laura Collimedaglia, Federica Alciato, R Molinari, Daniele Sola, Emmanuelle Ranza, Paola Naldi, Francesco Monaco, Maurizio Leone, Mario Pirisi, Gian Carlo Avanzi

    Julkaistu 2013
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  3. 3
    Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

    Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Tekijä Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail Aziz Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J. Pournaras, Ariane Malclès, Mateusz Kecik, Carlo Rivolta, Waqar Muzaffar, Aziz Qurban, Liaqat Ali, Yacine Aggoun, Federico Santoni, Periklis Makrythanasis, Jawad Ahmed, Raheel Qamar, Muhammad Tahir Sarwar, L. Keith Henry, Stylianos E. Antonarakis

    Julkaistu 2019
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  4. 4
    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Tekijä Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Samia A. Temtamy, G. Cara Romeo, Leo P. ten Kate, Robin L. Bennett, Alison Shaw, André Mégarbané, Cornelia M. van Duijn, Heli Bathija, Siv Fokstuen, Eric Engel, Joël Zlotogora, Emmanouil T. Dermitzakis, Armand Bottani, Sophie Dahoun, Michael A. Morris, Steve Arsenault, Mona Aglan, Mubasshir Ajaz, Ayad Alkalamchi, Dhekra Alnaqeb, Mohamed K. Alwasiyah, Nawfal Anwer, Rawan I. Awwad, Melissa Bonnefin, Michael Corry, Lorraine Gwanmesia, Gulshan Karbani, Maryam Mostafavi, Tommaso Pippucci, Emmanuelle Ranza-Boscardin, Bruno Reversade, Saghira Malik Sharif, Marieke Teeuw, A.H. Bittles

    Julkaistu 2011
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  5. 5
    FOXI3 pathogenic variants cause one form of craniofacial microsomia

    FOXI3 pathogenic variants cause one form of craniofacial microsomia Tekijä Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci‐Sparascio, Daniela Melis, Bruno Dallapiccola, M. Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong‐Biao Zhang, Stylianos E. Antonarakis

    Julkaistu 2023
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  6. 6
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Tekijä Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Julkaistu 2017
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  7. 7
    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Tekijä Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

    Julkaistu 2020
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  8. 8
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Tekijä Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Julkaistu 2020
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  9. 9
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Tekijä Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Barbara Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, A.A. Kattentidt-Mouravieva, Fernando Kok, Urania Kotzaeridou, V. Krishnamurthy, Vaidutis Kučinskas, A. Kuechler, Alinoë Lavillaureix, P. Liu, Linda Manwaring, Naomichi Matsumoto, B. Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, C. Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Julkaistu 2020
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  10. 10
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Tekijä Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Benjamin Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, Anja A. Kattentidt‐Mouravieva, Fernando Kok, Urania Kotzaeridou, Vidya Krishnamurthy, Vaidutis Kučinskas, Alma Kuechler, Alinoë Lavillaureix, Pengfei Liu, Linda Manwaring, Naomichi Matsumoto, Benoît Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, Caitlin Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Julkaistu 2021
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  11. 11
    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Tekijä Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar‐Yosef, Frédéric Bilan, Kathrine Bjørgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean‐Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma R. Ortiz‐González, Marta Pacio‐Míguez, María Palomares‐Bralo, Loren D.M. Peña, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet‐Perez, Avni Santani, Fernando Santos‐Simarro, Ben Pode‐Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti‐Furga, Isabelle Thiffault, Richard H. van Jaarsveld, Marie Vincent, Hong‐Gang Wang, Pia Zacher, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith

    Julkaistu 2021
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  12. 12
    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes Tekijä Lindsay C. Burrage, John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, Audrey E. Christiansen, Denise G. Lanza, John R. Seavitt, Mahim Jain, Xiaohui Li, David Parry, Vandana Raman, David Chitayat, Iván K. Chinn, Alison A. Bertuch, Lefkothea Karaviti, Alan E Schlesinger, Dawn Earl, Michael J. Bamshad, Ravi Savarirayan, HarshaVardhan Doddapaneni, Donna M. Muzny, Shalini N. Jhangiani, Christine M. Eng, Richard A. Gibbs, Weimin Bi, Lisa Emrick, Jill A. Rosenfeld, John H. Postlethwait, Monte Westerfield, Mary E. Dickinson, Arthur L. Beaudet, Emmanuelle Ranza, Céline Huber, Valérie Cormier‐Daire, Wei Shen, Rong Mao, Jason D. Heaney, Jordan S. Orange, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Wagner Antonio da Rosa Baratela, Merlin G. Butler, Asim Ali, Mehdi Adeli, Daniel H. Cohn, Deborah Krakow, Andrew P. Jackson, Melissa Lees, Amaka C Offiah, Colleen M. Carlston, John C. Carey, Grant S. Stewart, Carlos A. Bacino, Philippe M. Campeau, Brendan Lee, David R. Adams, Aaron W. Aday, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Eva H. Baker, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jean M. Davidson, Jyoti G. Dayal, Esteban C. Dell’Angelica

    Julkaistu 2019
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