Zobrazeno 1 - 10
of 605
pro vyhledávání: '"Pierre, Wolkenstein"'
Autor:
Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, Eric Pasmant
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-7 (2024)
Abstract We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Amon
Externí odkaz:
https://doaj.org/article/fb86ff8596a34c3cb3123f177fde1632
Autor:
Britt A. E. Dhaenens, Sarah A. van Dijk, Laura Fertitta, Walter Taal, Pierre Wolkenstein, Rianne Oostenbrink
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-8 (2024)
Abstract Background Almost all patients with Neurofibromatosis type 1 (NF1) develop cutaneous neurofibroma (cNF), benign dermal tumours that have a large impact on the patient’s Quality of Life (QoL). The French cNF-Skindex is the first questionnai
Externí odkaz:
https://doaj.org/article/8912a6f65d6845b6a78130fc214d3faf
Autor:
Kévin Muret, Vincent Le Goff, Claire Dandine-Roulland, Claire Hotz, Francette Jean-Louis, Bertrand Boisson, Lilia Mesrob, Florian Sandron, Delphine Daian, Robert Olaso, Edith Le Floch, Vincent Meyer, Pierre Wolkenstein, Jean-Laurent Casanova, Yves Lévy, Eric Bonnet, Jean-François Deleuze, Sophie Hüe
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10374 (2024)
Hidradenitis suppurativa (HS) is a chronic skin disease characterized by painful, recurrent abscesses, nodules, and scarring, primarily in skin folds. The exact causes of HS are multifactorial, involving genetic, hormonal, and environmental factors.
Externí odkaz:
https://doaj.org/article/f1aa4492718146ca81b822bc1aed3e8f
Autor:
Franz Koenig, Cécile Spiertz, Daniel Millar, Sarai Rodríguez-Navarro, Núria Machín, Ann Van Dessel, Joan Genescà, Juan M. Pericàs, Martin Posch, Adrian Sánchez-Montalva, Ana Belén Estevez, Àlex Sánchez, Anna Sanjuan, Elena Sena, Emma Granados, Esther Arévalo de Andrés, Fátima Nuñez, Gara Arteaga, Gabriela Perez Fuentes Ruiz, Guillermo Fernández, Jesus Rivera-Esteban, Joan Comella, Josep Antoni Ramos-Quiroga, Juan Espinosa, Juan Manuel Pericàs, Lada Murcia, Lucinda Cash-Gibson, Maria de Valles Silvosa, María Fernanda Barroso de Sousa, Olga Sánchez-Maroto Carrizo, Pol Ibañez-Jiménez, Salvador Augustin, Santiago Perez-Hoyos, Sergio Muñoz-Martínez, Silvia Serres, Susana Kalko, Amelie Michon, Anton Ussi, Ben Lydall, Edwin van de Ketterij, Ignacio Quiles, Tamara Carapina, Constantin Kumaus, Dariga Ramazanova, Elias Laurin Meyer, Marta Bofill Roig, Martin Brunner, Pavla Krotka, Sonja Zehetmayer, Charlotte Carton, Eric Legius, Amina Begum, Carmine Pariante, Courtney Worrell, Giulia Lombardo, Luca Sforzini, Mollie Brown, Nancy Gullet, Nare Amasi-Hartoonian, Rosalie Ferner, Melisa Kose, Andrea Spitaleri, Arash Ghodousi, Clelia Di Serio, Daniela Cirillo, Federica Cugnata, Francesca Saluzzo, Francesco Benedetti, Maria Giovanna Scarale, Michela Zini, Paola Maria Rancoita, Riccardo Alagna, Sara Poletti, Britt Dhaenens, Johan Van Der Lei, Jurriaan de Steenwinkel, Maxim Moinat, Rianne Oostenbrink, Witte Hoogendijk, Michael Hölscher, Norbert Heinrich, Christian Otte, Cornelia Potratz, Dario Zocholl, Eugenia Kulakova, Frank Tacke, Jelena Brasanac, Jonas Leubner, Maja Krajewska, Michaela Maria Freitag, Stefan Gold, Thomas Zoller, Woo Ri Chae, Christel Daniel, Leila Kara, Morgan Vaterkowski, Nicolas Griffon, Pierre Wolkenstein, Raluca Pais, Vlad Ratziu, David Voets, Christophe Maes, Dipak Kalra, Geert Thienpoint, Jens Deckerck, Nathan Lea, Peter Singleton, Kert Viele, Peter Jacko, Scott Berry, Tom Parke, Burç Aydin, Christine Kubiak, Jacques Demotes, Keiko Ueda, Mihaela Matei, Sergio Contrino, Claas Röhl, Estefania Cordero, Fiona Greenhalgh, Hannes Jarke, Juliana Angelova, Mathieu Boudes, Stephan Dressler, Valentina Strammiello, Quentin Anstee, Iñaki Gutierrez-Ibarluzea, Maximilian Otte, Natalie Heimbach, Benjamin Hofner, Cora Burgwinkel, Hue Kaestel, Katharina Hees, Quynh Nguyen, Daniel Prieto-Alhambra, Eng Hooi (Cheryl) Tan, Mario Raviglione, Pierpaolo de Colombani, Simone Villa, Eduard Maron, Gareth Evans, Adam J. Savitz, Anna Duca, Anne Kaminski, Bie Wouters, Brandon Porter, Catherine Charron, Cecile Spiertz, Christopher Zizzamia, Danny Hasselbaink, David Orr, Divya Kesters, Ellen Hubin, Emma Davies, Eva-Maria Didden, Gabriela Guz, Evelyn Verstraete, Gary Mao, George Capuano, Heddie Martynowicz, Heidi De Smedt, Ingela Larsson, Ines Bruegelmans, Isabelle Coste, Jesus Maria Gonzalez Moreno, Julia Niewczas, Jiajun Xu, Karin Rombouts, Katherine Woo, Kathleen Wuyts, Kathryn Hersh, Khrista Oldenburg, Lingjiao Zhang, Mark Schmidt, Mark Szuch, Marija Todorovic, Maartje Mangelaars, Melissa Grewal, Molli Sandor, Nick Di Prospero, Pamela Van Houten, Pansy Minnick, Polyana Bastos, Robert Patrizi, Salvatore Morello, Severijn De Wilde, Tao Sun, Timothy Kline, Tine de Marez, Tobias Mielke, Tom Reijns, Vanina Popova, Yanina Flossbach, Yevgen Tymofyeyev, Zeger De Groote, Alex Sverdlov, Alexandra Bobirca, Annekatrin Krause, Catalin Bobrica, Daniela Heintz, Dominic Magirr, Ekkehard Glimm, Fabienne Baffert, Federica Castiglione, Franca Caruso, Francesco Patalano, Frank Bretz, Guenter Heimann, Ian Carbarns, Ignacio Rodríguez, Ioana Ratescu, Lisa Hampson, Marcos Pedrosa, Mareile Hark, Peter Mesenbrink, Sabina Hernandez Penna, Sarah Bergues-Lang, Susanne Baltes-Engler, Tasneem Arsiwala, Valeria Jordan Mondragon, Hua Guo, Jose Leite Da Costa, Carl-Fredrik Burman, George Kirk, Anders Aaes-Jørgensen, Jorgen Dirach, Mette Skalshøi Kjær, Alexandra Martin, Diyan Hristov, Florent Rousseaux, Norbert Hittel, Robert Dornheim, Daniel Evans, Nick Sykes, Camille Couvert, Catherine Leuven, Loïc Notelet, Madhavi Gidh-Jain, Mathieu Jouannin, Nadir Ammour, Suzanne Pierre, Volker Haufe, Yingwen Dong, Catherine Dubanchet, Nathalie de Préville, Tania Baltauss, Zhu Jian, Sara Shnider, Tal Bar-El, Annette Bakker, Marco Nievo, Uche Iloeje, Almari Conradie, Ece Auffarrth, Leandra Lombard, Majda Benhayoun, Morounfolu Olugbosi, Stephanie S. Seidel, Berta Gumí, Claudia García Guzmán, Eva Molero, Gisela Pairó, Núria Machin, Raimon Cardelús, Saira Ramasastry, Saskia Pelzer, Andreas Kremer, Erno Lindfors, Chris Lynch
Publikováno v:
EClinicalMedicine, Vol 67, Iss , Pp 102384- (2024)
Summary: Platform trials bring the promise of making clinical research more efficient and more patient centric. While their use has become more widespread, including their prominent role during the COVID-19 pandemic response, broader adoption of plat
Externí odkaz:
https://doaj.org/article/f59c23359d8f43f08f6d61eafda30803
Autor:
Léa Hoisnard, Bénédicte Lebrun-Vignes, Sébastien Maury, Matthieu Mahevas, Khalil El Karoui, Lydia Roy, Anissa Zarour, Marc Michel, José L. Cohen, Aurélien Amiot, Pascal Claudepierre, Pierre Wolkenstein, Philippe Grimbert, Emilie Sbidian
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Increasing number of Janus kinase (JAK) inhibitors have been approved for chronic haematopoietic neoplasms and inflammatory/autoimmune diseases. We aimed to assess safety of the first three approved JAK inhibitors: ruxolitinib, tofacitinib a
Externí odkaz:
https://doaj.org/article/2ca98a65657442a48f5704f32414808b
Autor:
Jordane Chaix, Marie Karanian, Nadège Corradini, Maria Merched, Frédérique Larousserie, Louise Galmiche, Brigitte Lacour, Aude Marie-Cardine, Anne-Sophie Defachelles, Pablo Berlanga, Angélique Rome, Estelle Thébaud, Valérie Bernier-Chastagner, Hervé J. Brisse, Frédéric Hameury, Pierre Wolkenstein, Stéphane Ducassou, Daniel Orbach, Cécile Vérité
Publikováno v:
EJC Paediatric Oncology, Vol 1, Iss , Pp 100013- (2023)
Introduction: Malignant Peripheral Nerve Sheath Tumors (MPNST) are very rare and aggressive tumors, which can affect children, adolescents, and young adults. These tumors are frequently associated with type 1 neurofibromatosis (NF1). This study aims
Externí odkaz:
https://doaj.org/article/f3151756ad4b4376942cc0267aae768d
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
Abstract Neurofibromatosis 1 (NF1) is an inherited, autosomal-dominant, tumor predisposition syndrome with a birth incidence as high as 1:2000. A patient with NF1 is four to five times more likely to develop a malignancy as compared to the general po
Externí odkaz:
https://doaj.org/article/af92d7c4cd8842b0a1f8c5f2a9d90b0a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-4 (2020)
Abstract Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofibromin, a regulator of neurona
Externí odkaz:
https://doaj.org/article/0383e77cd42241fc86c9240c6873a748
Autor:
Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale, Pierre Wolkenstein, NF France Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-23 (2020)
Abstract Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations wh
Externí odkaz:
https://doaj.org/article/5661b04f6557471e84beafbe5ef11e9c
Autor:
Marlene Guiraud, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Jean-Marc Grégoire, Isabelle Rauly-Lestienne, Ignacio Blanco, Pierre Wolkenstein, Anne-Marie Schmitt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden. The objectives of this patient survey were to better understand the real-world experiences of patients li
Externí odkaz:
https://doaj.org/article/d66d2cf1a4c74bed92a3ce2b1f743acb