부산대학교 도서관

Mandic, M; Lundberg, TR; Frippiat, J-P; Mcdonnell, AC; Mekjavic, IB; Bareille, M-P; Billette, de Villemeur R; Fernandez-gonzalo, R

EXPERIMENTAL PHYSIOLOGY. 111(3):1181-1190

Vissers, L.E.L.M.; Kalvakuri, S.; de Boer, E.; Geuer, S.; Oud, M.M.; van Outersterp, I.; Kwint, M.P.; Witmond, M.; Kersten, S.; Polla, D.L.; Weijers, D.; Begtrup, A.; McWalter, K.; Ruiz, A.; Gabau, E.; Morton, J.E.; Griffith, C.; Weiss, K.; Gamble, C.; Bartley, J.; Vernon, H.J.; Brunet, K.; Ruivenkamp, C.; Kant, S.G.; Kruszka, P.; Larson, A.; Afenjar, A.; Billette de Villemeur, T.; Nugent, K.; Raymond, F.L.; Venselaar, H.; Demurger, F.; Soler-Alfonso, C.; Li, D.; Bhoj, E.; Hayes, I.; Hamilton, N.P.; Ahmad, A.; Fisher, R.; van den Born, M.; Willems, M.; Sorlin, A.; Delanne, J.; Moutton, S.; Christophe, P.; Mau-Them, F.T.; Vitobello, A.; Goel, H.; Massingham, L.; Phornphutkul, C.; Schwab, J.; Keren, B.; Charles, P.; Vreeburg, M.; De Simone, L.; Hoganson, G.; Iascone, M.; Milani, D.; Evenepoel, L.; Revencu, N.; Ward, D.I.; Burns, K.; Krantz, I.; Raible, S.E.; Murrell, J.R.; Wood, K.; Cho, M.T.; van Bokhoven, H.; Muenke, M.; Kleefstra, T.; Bodmer, R.; de Brouwer, A.P.M.

AMERICAN JOURNAL OF HUMAN GENETICS
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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American Journal of Human Genetics, 107, 1, pp. 164-172
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
The American Journal of Human Genetics

T. Stead; A. P. Blaber; D. N. Divsalar; D. Xu; K. Tavakolian; J. Evans; R. Billette de Villemeur; M-P Bareille; A. Saloň; B. Steuber; N. Goswami

Front Physiol
Frontiers in Physiology, Vol 16 (2025)

Helbig, Katherine; Lauerer, Robert; Bahr, Jacqueline; Souza, Ivana; Myers, Candace; Uysal, Betül; Schwarz, Niklas; Gandini, Maria; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina; Soerensen, Kristina; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan; Klee, Eric; Tillema, Jan-Mendelt; Payne, Eric; Cousin, Margot; Kruisselbrink, Teresa; Wick, Myra; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica; Katsanis, Nicholas; Corbett, Mark; Maclennan, Alastair; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly; Asamoah, Alexander; Dimmock, David; Mccarrier, Julie; Botto, Lorenzo; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie; Nolan, Melinda; Snell, Russell; Lehnert, Klaus; Sadleir, Lynette; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael; Lyons, Michael; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle; Smith, Lacey; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren; Rankin, Julia; Zeman, Adam; Raymond, F Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike; Scheffer, Ingrid; Helbig, Ingo; Zamponi, Gerald; Lerche, Holger; Mefford, Heather; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; Mcdonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Smith, Edward; Wiener, John

American Journal of Human Genetics, 103, 5, pp. 666-678
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
Deciphering Developmental Disorders Study, Task Force for Neonatal Genomics, Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, Billette, D V T, Héron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, C R, Soerensen, K P, Kibaek, M, Kamsteeg, E-J, Koolen, D A, Gunning, B, Schelhaas, H J, Kruer, M C, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, S C, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, Q, Zhu, C, Boysen, K, Vairo, F, Lanpher, B C, Klee, E W, Tillema, J-M, Payne, E T, Cousin, M A, Kruisselbrink, T M, Wick, M J, Baker, J, Haan, E, Kerr, B, Hughes, I & Banka, S 2019, 'Correction : De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 104, no. 3, pp. P562. https://doi.org/10.1016/j.ajhg.2019.02.015
Deciphering Developmental Disorders Study 2018, 'De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678. https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, vol 103, iss 5

Tolou, C. ; Mahieu-Durringer, L. ; Cassagne, M. ; Hamid, S. ; Billette de Villemeur, R. ; Gualino, V. ; Susini, A. ; Pagot Mathis, V. ; Gallini, A. ; Soler, V.

In Journal Francais d'Ophtalmologie January 2016 39(1):90-97

Durizot, Meghane ; Burglen, Lydie ; Garel, Catherine ; Blondiaux, Eléonore ; Riquet, Audrey ; Floret, Valentine ; Desportes, Vincent ; Häänpaa, Maria ; Valenzuela, Maria Irene ; Pinto, Anna Maria ; Renieri, Alessandra ; Vanneste, Michiel ; Devriendt, Koen ; de Waele, Liesbeth ; Guilbaud, Lucie ; Jouannic, Jean-Marie ; Harion, Madeleine ; Billette de Villemeur, Thierry ; Rodriguez, Diana ; Lacaze, Emmanuelle ; Milh, Mathieu ; Cloarec, Robin ; Afenjar, Alexandra ; Héron, Delphine ; Mignot, Cyril ; Valence, Stéphanie

In Pediatric Neurology September 2025 170:49-57

Billette de Villemeur, Etienne ; Scannell, Jack W. ; Versaevel, Bruno

In Drug Discovery Today November 2022 27(11)

Billette de Villemeur, Etienne ; Versaevel, Bruno

In Journal of Health Economics May 2019 65:260-283

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Giabicani E; INSERM, Sorbonne Université, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris F-75012, France.; Billette de Villemeur R; APHP, Sorbonne Université, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris F-75012, France.; Acher M; APHP, Sorbonne Université, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris F-75012, France.; Cochet M; INSERM, Sorbonne Université, Centre de Recherche Saint Antoine, Paris F-75012, France.; Perrière A; APHP, Sorbonne Université, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris F-75012, France.; Dubern B; INSERM U1269, Sorbonne Université, Nutriomics, APHP, Hôpital Armand Trousseau, Service de Nutrition et de Gastroentérologie Pédiatriques, Paris F-75012, France.; Netchine I; INSERM, Sorbonne Université, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris F-75012, France.; INSERM, Sorbonne Université, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Endocrinologie moléculaire et Pathologies d'empreinte, Paris F-75012, France.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

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In European Journal of Paediatric Neurology May 2018 22(3):369-379

Agathe Billette de Villemeur; Pierre Tattevin; Louis-Rachid Salmi; S. Alain; D. Antona; Y. Aujard; A. Bégué; T. Barjat; E. Billaud; A. de Villemeur Billette; S. Colson; V. Dufour; D. Jean; J. F. Gehanno; V. des Fontaines Halley; L. Mandelbrot; S. Matheron; P. Minodier; M. Marseille Roussey; D. Royère; L. R. Salmi; O. Scemama; P. Tattevin; F. Teurnier; C. Trastour; C. Vauloup-Fellous

BMC Infect Dis
BMC Infectious Diseases, Vol 20, Iss 1, Pp 1-15 (2020)

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, de Villemeur, T B, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Corcoles, C S, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, de Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J P S M, Linnankivi, T, Mackay, M T, Marom, D R, Lourenco, C M, McKee, S A, Moroni, I, Morton, J E V, Moutard, M L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Perez-Duenas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Knaap, M, Orcesi, S & Rice, G I 2015, 'Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics Part A, vol. 167, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, G I & D Arrigo, S 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.', American Journal of Medical Genetics. Part A, vol. 167A, no. 2. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, G I 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics-Part A, vol. 167A, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
American Journal of Medical Genetics, Part A

Harmatz P1, Hendriksz CJ2; Lampe C3, McGill JJ4; Parini R5, Leão Teles E6; Valayannopoulos V7, Cole TJ8; Matousek R9, Graham S9; Guffon N10, Quartel A9; he MPS VI Study Group co investigators were Yasmina Amraoui; Md, Children's Hospital; University of Mainz, Germany; Laila Arash; Children's Hospital, University of Mainz; Germany; Javier Arroyo, Md; Hospital San Pedro de Alcantara, Hospital de día de Pediatría; Caceres, Spain; Ana CecliaíAzevedo; Md, Serviço de Genética Médica/HCPA; Department of Genetics/UFRGS; Porto Alegre, Brazil; BARONE, RITA MARIA ELISA; Md, Department of Pediatrics; University of Catania, Catania; Italy; Michael Beck, Md; D. N. Bennett Jones, Md; Consultant General Renal Physician, Whitehaven; Philippe Bernard, Md; Centre Hospitalier d'Arras, Arras; France; Thierry Billette de Villemeur, Hôpital Trousseau; Paris, France; Raquel Boy; Md, Hospital Universitário Pedro Ernesto; Rio de Janeiro, Brazil; Susan Conrad; Research Center Oakland; Oakland, Ca; USA; Eduardo Coopman, Md; Hospital del Cobre D.e. Salvador, Calama; Chile; Agata Fiumara, Md; Department of Pediatrics, University of Catania; Catania, Italy; William Frischman; Md, The Townsville Hospital; Townsville, Australia; Roberto Giugliani; Md, Phd; Serviço de Genética Médica/HCPA; Department of Genetics/UFRGS, Porto Alegre; Brazil; Elio Gizzi, Md; Children's Hospital Research Center Oakland, Oakland; Ca, USA; Paul Harmatz; John J. Hopwood, Department of Genetic Medicine; Women's; Children's Hospital Adelaide, North Adelaide; Australia; Simon Jones, Md; Royal Manchester Children's Hospital, Manchester; Paige Kaplan, Children's Hospital of Philadelphia; Philadelphia, Pa; Laura Keppen, Md; Department of Pediatrics, University of South Dakota School of Medicine; Sioux Falls, Sd; David Ketteridge, Department of Genetic Medicine; Prof Rudolf Korinthenberg, Universitätsklinikum Freiburg; Zentrum für Kinderheilkunde und Jugendmedizin, Klinik II Neuropädiatrie und Muskelerkrankungen; Freiburg, Germany; Michel Kretz; Md, Hôpital Civil de Colmar; Le Parc Centre de la Mère et de l'Enfant, Colmar; Elisa Leão Teles, Md; Unidade de Doenças Metabólicas, Departamento Pediatria; Hospital de Sao João, Porto; Portugal; Claudia Lee, Mph; Shuan Pei Lin; Md, MacKay Memorial Hospital; Department of Genetics, Taipei; Taiwan; Lionel Lubitz, Md; Royal Children's Hospital, Melbourne; Ana Maria Martins, Md; Unifesp, Instituto de Oncologia Pediátrica; Graacc/unifesp, Departamento de Pediatria; São Paulo, Brazil; M. Clara Sá Miranda; Md, Unidade de Biologia do Lisossoma e. Peroxisoma; Instituto de Biologia Molecular e. Celular, Porto; Stephanie Oates, RN Department of Genetic Medicine; Anne O'Meara, Md; Our Lady's Hospital for Sick Children, Dublin; Ireland; Ans van der Ploeg, Md; Erasmus MC University Medical Center, Rotterdam; The Netherlands; Isabel Cristina Neves de Souza, Md; Universidade Federal do Pará, Centro de Ciências Biológicas; Hospital Universitário João de Barros Barreto, Belém; Ray Pais, Md; Pediatric Hematology/Oncology, East Tennessee Children's Hospital; Knoxville, Tn; Gregory Pastores, Md; Phd, NYU Medical Center; Rusk Institute, New York; Ny, USA; Lorenzo Pavone; Barbara Plecko, U.n.i.v. Klinik fur Kinder und Jugendheilkunde; Graz, Austria; Silvio Pozzi; Md, Ospedale Vito Fazzi; UO Pediatria, Lecce; Uwe Preiss, Md; Universitaetsklinik und Poliklinik fuer Kinder, Halle; Emerson Santana Santos, Md; Fundação Universidade de Ciências da Saúde de Alagoas Governador, Departamento de Pediatria; Maceió, Brazil; Maurizio Scarpa; Department of Pediatrics, University of Padova; Padova, Italy; Ida Vanessa D. Schwartz; David Sillence; Westmead, Australia; Luiz Carlos Santana da Silva; Phd, Universidade Federal do Pará; Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto; Belém, Brazil; Julie Simon; Rn, Children's Hospital; Prof Giovanni Sorge, Department of Pediatrics; Robert Steiner, Departments of Pediatrics; Molecular; Medical Genetics; Oregon Health Science University, Portland; Or, USA; Eugênia R. Valadares; Hospital das Clínicas, Faculdade de Medicina da Universidade Federal de Minas Gerais UFMG; Avenida Professor Alfredo Balena, Belo Horizonte Minas Gerais; Bonito Victor, Md; Lewis Waber, Md; Phd, Pediatric Genetics; Metabolism; University of Texas Southwest Medical Center, Dallas; Tx, USA; John Waterson; Chester B. Whitley; University of Minnesota Medical School, Minneapolis; Mn, USA; J. Edmond Wraith; Md, Royal Manchester Children's Hospital; Manchester, U.k.

Molecular Genetics and Metabolism. 122:107-112

Rice, Gillian; Park, Sehoon; Gavazzi, Francesco; Adang, Laura; Ayuk, Loveline; van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Rodero, Mathieu P; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette; Blumkin, Lubov; Boespflug‐tanguy, Odile; Briggs, Tracy; Brimble, Elise; Dale, Russell; Darin, Niklas; Debray, François‐guillaume; de Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Drake af Hagelsrum, Gunilla; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre; Lev, Dorit; Levrat, Virginie; Livingston, John; Marti, Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie‐christine; Oppermann, Ilena; Pérez‐dueñas, Belén; Popp, Bernt; Rodero, Mathieu; Rodriguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; van Haren, Keith; Tomas Vila, Miguel; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer; Orcesi, Simona; Vanderver, Adeline; Hur, Sun; Crow, Yanick

Hum Mutat
Addi. Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
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Universitat Autònoma de Barcelona
Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billette de Villemeur, T, Bley, A E, Blumkin, L, Boespflug-Tanguy, O, Briggs, T A, Brimble, E, Dale, R C, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, Drake Af Hagelsrum, G, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, D A, Lev, D, Levrat, V, Livingston, J H, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Pérez-Dueñas, B, Popp, B, Rodero, M P, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Tomas Vila, M, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, C J, Zerem, A, Zweier, C, Zuberi, S M, Orcesi, S, Vanderver, A L, Hur, S & Crow, Y J 2020, ' Genetic and phenotypic spectrum associated with IFIH1 gain-of-function ', Human Mutation: Variation, Informatics and Disease . https://doi.org/10.1002/humu.23975
Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billette de Villemeur, T, Bley, A E, Blumkin, L, Boespflug-Tanguy, O, Briggs, T A, Brimble, E, Dale, R C, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, Drake Af Hagelsrum, G, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, D A, Lev, D, Levrat, V, Livingston, J H, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Pérez-Dueñas, B, Popp, B, Rodero, M P, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Tomas Vila, M, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, C J, Zerem, A, Zweier, C, Zuberi, S M, Orcesi, S, Vanderver, A L, Hur, S & Crow, Y J 2020, 'Genetic and phenotypic spectrum associated with IFIH1 gain-of-function', Human Mutation. https://doi.org/10.1002/humu.23975
Human Mutation

Blau, Nenad; Bélanger-Quintana, Amaya; Demirkol, Mübeccel; Feillet, François; Giovannini, Marcello; MacDonald, Anita; Trefz, Friedrich K.; Van Spronsen, Francjan; Karall, D.; Scholl-Bürgi, S.; Tahirovic, H.; Toromanovic, A.; Baric, I.; Sarnavka, V.; Prochazkova, D.; Pazdirkova, R.; Güttler, F.; Niinikoski, H.; Bonnemains, C.; Marioli, S.; Barat, P.; De Parscau, L.; Meyer, M.; Bedu, A.; Fouilhoux, A.; Chabrol, B.; Wagner, K.; Billette De Villemeur, T.; De Lonlay-Debeney, P.; Ogier De Baulny, H.; Odent, S.; Eyer, D.; Labarthe, F.; Hennermann, J. B.; Mönch, E.; Stolz, S.; Spiekerkötter, U.; Knerr, I.; Schwab, K. O.; Kreuder, J.; Ullrich, K.; Das, A. M.; Burgard, P.; Kon-Stantopoulou, V.; Lindner, M.; Müller, E.; Haase, C.; Beblo, S.; Weigel, J.; Plötzch, S.; Muntau, A.; Weglage, J.; Marquardt, J.; Scheible, D.; Clemens, P.; Schulpis, K. H.; Papadia, F.; Salardi, S.; Meli, C.; Donati, M. A.; Procopio, E.; Cerone, R.; Riva, E.; Paci, S.; Carbone, M. T.; Burlina, A.; Lapichino, L.; Cotugno, G.; Leuzzi, V.; Rubio-Gozalbo, E.; De Vries, M.; De Klerk, J. B.C.; Iversen, K.; Wiig, I.; Jørgensen, J.; Milanowski, A.; Nowacka, M.; Djordjevic, M.; Laketa, C.; Gutiérrez-Junquera, C.; Márquez-Armenteros, A.; Vilaseca Busca, M. A.; Campistol Plana, J.; Peña Quintana, Luis; Gil-Ortega, D.; Gomez, A. R.; Valverde, F. S.; Gonzalez-Lamuno, D.; Couce-Pico, M. L.; Dalmau Serra, J.; Baldellou-Vazquez, A.; Garcia-Jimenez, M. C.; Papadopoulou, D.; Almm, J.; Halldin Stenlid, M.; Nuoffer, J. M.; Rohrbach, M.

Molecular Genetics and Metabolism [ISSN 1096-7192], v. 99(2), p. 109-115, (Febrero 2010)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
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Marsh, Ashley P. L.; Héron, Delphine; Edwards, Timothy J.; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A.; Mcgillivray, George; Mcilroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R.; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A.; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah E. M.; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attie-Bitach, Tania; Delatycki, Martin B.; Mandel, Jean-Louis; Amor, David J.; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette de Villemeur, Thierry; Sherr, Elliott H.; Leventer, Richard J.; Richards, Linda J.; Lockhart, Paul J.; Depienne, Christel

Nature Genetics, vol 49, iss 4

Vasquez, N. Pérez ; Crosnier de bellaistre-Bonose, M. ; Lévêque, N. ; Thioulouse, E. ; Doummar, D. ; Billette de Villemeur, T. ; Rodriguez, D. ; Couderc, R. ; Robin, S. ; Courderot-Masuyer, C. ; Moussa, F.

In Journal of Chromatography B 1 October 2015 1002:130-138