Zobrazeno 1 - 10
of 527
pro vyhledávání: '"Gheldof, A"'
Autor:
Elise Nauwynck, Michel De Vos, Alexander Gheldof, Bart JH Dequeker, Annelore Van Der Kelen, Frederik Hes, Stephanie Verheyden, Jesse Vanbesien, Inge Gies, Jean De Schepper, Willem Staels
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2024)
Delayed puberty in girls is often related to late maturation but is occasionally the first sign of premature ovarian insufficiency (POI). POI is a condition that affects ovarian function and fertility, and its etiology is unknown in most cases. Genet
Externí odkaz:
https://doaj.org/article/0898069277994d15a01015a8a598ea76
Autor:
Sofie Joris, Philippe Giron, Catharina Olsen, Sara Seneca, Alexander Gheldof, Shula Staessens, Rajendra Bahadur Shahi, Sylvia De Brakeleer, Erik Teugels, Jacques De Grève, Frederik J. Hes
Publikováno v:
BMC Cancer, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Among the 10% of pancreatic cancers that occur in a familial context, around a third carry a pathogenic variant in a cancer predisposition gene. Genetic studies of pancreatic cancer predisposition are limited by high mortality rat
Externí odkaz:
https://doaj.org/article/0e890e7144ad45c5a4373146724f97bc
Autor:
Smeets, Nathalie, Gheldof, Alexander, Dequeker, Bart, Poleur, Margaux, Maldonado Slootjes, Sofia, Van Parijs, Vinciane, Deconinck, Nicolas, Dontaine, Pauline, Alonso-Jimenez, Alicia, De Bleecker, Jan, De Ridder, Willem, Herdewyn, Sarah, Paquay, Stéphanie, Vanlander, Arnaud, De Waele, Liesbeth, Peirens, Geertrui, Beysen, Diane, Claeys, Kristl G., Dubuisson, Nicolas, Hansen, Isabelle, Remiche, Gauthier, Seneca, Sara, Bissay, Véronique, Régal, Luc
Publikováno v:
In Pediatric Neurology September 2024 158:57-65
Autor:
Rockenberger, Annika, Gilbert, Sofie, Tiemann, Juliane, Pierfederici, Elisa, Baunvig, Katrine F., Nielbo, Kristoffer, Achmann, Michael, Wolff, Christian, Matsson, Arild, Kriström,Olov, Felsing, Ulrike, Fornaro, Peter, Frischknecht, Max, Raemy, Julien Antoine, Poso, Venla, Välisalo, Tanja, Toivanen, Ida, Holmila, Antero, Ojala, Jari, Kāle, Maija, Jain, Ramesh, Brodén, Daniel, Olsson, Leif-Jöran, Fridlund, Mats, Ängsal, Magnus P., Öhberg, Patrik, Michael, Azar, Michael, McGuire, Gangopadhyay, Nivedita, Grève, Sebastian Sunday, Pichler, Alois, Magin, Elisabeth Maria, Smith, Marcus, Aadland, Emma Josefin Ölander, Jauhiainen, Heidi, Jauhiainen, Tommi, Fernández, Elena Fernández, Savcisens, Germans, Nelhans, Gustaf, Ludvigsen, Louise, Perner, Mads, Pedersen, Bjørn-Richard, Cañadas, Rafael Nozal, Sildnes, Anders, Shvetsov, Nikita, Andersen, Trygve, Bongo, Lars Ailo, Sommerseth, Hilde Leikny, Fagerving, Alicia, Rasmussen, Krista S. G., Vad, Kristen, Møldrup-Dalum, Per, Drobac, Senka, Enqvist, Johanna, Leskinen, Petri, Wahjoe, Muhammad Faiz, Rantala, Heikki, Koho, Mikko, Pikkanen, Ilona, Jauhiainen, Iida, Tuominen, Jouni, Paloposki, Hanna-Leena, Mela, Matti La, Hyvönen, Eero, Gasparini, Andrea Alessandro, Gheldof, Tom, Martin, Benjamin, Norén, Fredrik Mohammadi, Sinikallio, Laura, Liimatta, Aatu, Ryan, Yann, Säily, Tanja, Tolonen, Mikko, Rikters, Matīss, Baklāne, Anda, Saulespurēns, Valdis, Tinits, Peeter
Externí odkaz:
http://hdl.handle.net/10852/106269
Autor:
Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
Publikováno v:
Endocrine Connections, Vol 11, Iss 22, Pp 1-7 (2022)
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions,
Externí odkaz:
https://doaj.org/article/2d8fa80d5d96414aaaa8f97a72aee4ac
Autor:
Kaoutar Tazi, Vanessa Guy‐Viterbo, Alexander Gheldof, Aurélie Empain, Anne Paternoster, Corinne De Laet
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 316-321 (2022)
Abstract Sialidosis is a rare autosomal‐recessive lysosomal storage disease due to mutations in the NEU1 gene leading to a deficit of alpha‐n‐acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins/peptides and oligos
Externí odkaz:
https://doaj.org/article/3eddfc09a27d4de09dbdb253f57db9a9
Autor:
Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François
Publikováno v:
In The American Journal of Human Genetics 3 February 2022 109(2):345-360
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Autor:
Ann Cordenier, Anja Flamez, Thomy de Ravel, Alexander Gheldof, Luigi Pannone, Carlo De Asmundis, Gudrun Pappaert, Véronique Bissay
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac m
Externí odkaz:
https://doaj.org/article/f09725c899704f50b6309cd3fccdbe39
Autor:
C. Markouli, E. Couvreu De Deckersberg, D. Dziedzicka, M. Regin, S. Franck, A. Keller, A. Gheldof, M. Geens, K. Sermon, C. Spits
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract We identified a human embryonic stem cell subline that fails to respond to the differentiation cues needed to obtain endoderm derivatives, differentiating instead into extra-embryonic mesoderm. RNA-sequencing analysis showed that the subline
Externí odkaz:
https://doaj.org/article/5397d68c03954269819a8af9ebc46823