Zobrazeno 1 - 10
of 41
pro vyhledávání: '"ALEXANDER GH"'
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:
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
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
SSc-ILD (scleroderma associated interstitial lung disease) is a complex rheumatic disease characterized in part by immune dysregulation leading to the progressive fibrotic replacement of normal lung architecture. Because improved treatment options ar
Externí odkaz:
https://doaj.org/article/053f6a7f7b7e432fb8adde6c7d032ead
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:
Laura Empl, Alexandra Chovsepian, Maryam Chahin, Wing Yin Vanessa Kan, Julie Fourneau, Valérie Van Steenbergen, Sanofer Weidinger, Maite Marcantoni, Alexander Ghanem, Peter Bradley, Karl Klaus Conzelmann, Ruiyao Cai, Alireza Ghasemigharagoz, Ali Ertürk, Ingrid Wagner, Mario Kreutzfeldt, Doron Merkler, Sabine Liebscher, Florence M. Bareyre
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Which contralesional circuits adapt after traumatic brain injury (TBI) is unclear. Here the authors used in vivo imaging, retrograde labeling, rabies tracing, clearing and functional imaging to demonstrate that callosal neurons selectively adapt afte
Externí odkaz:
https://doaj.org/article/1ae8af63caf147c5851d208a6526975f
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:
Asma Sassi, M.D., Julie Désir, M.D., Ph.D., Véronique Janssens, B.Sc., Martina Marangoni, M.Sc., Dorien Daneels, M.Sc., Alexander Gheldof, Ph.D., Maryse Bonduelle, M.D., Ph.D., Sonia Van Dooren, Ph.D., Sabine Costagliola, Ph.D., Anne Delbaere, M.D., Ph.D.
Publikováno v:
F&S Reports, Vol 1, Iss 3, Pp 193-201 (2020)
Objective: To find the genetic etiology of premature ovarian insufficiency (POI) in a patient with primary amenorrhea and hypergonadotropic hypogonadism. Design: Case report. Setting: University hospital. Patient(s): A Belgian woman aged 32 years wit
Externí odkaz:
https://doaj.org/article/760d46662238443abf2179ae573c4120
Autor:
Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L. Bubenik, Christina Markouli, Lise Barbé, Joke Allemeersch, Pierre Hilven, Geoffrey Duqué, Maurice S. Swanson, Alexander Gheldof, Claudia Spits, D. Karen
Publikováno v:
Biology Open, Vol 11, Iss 1 (2022)
Skeletal muscle tissue is severely affected in myotonic dystrophy type 1 (DM1) patients, characterised by muscle weakness, myotonia and muscle immaturity in the most severe congenital form of the disease. Previously, it was not known at what stage du
Externí odkaz:
https://doaj.org/article/18c90ea6abe240b6b187510af8fdf853
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Indications and administration of intra‐amniotic infusions of L‐thyroxine in the context of non‐immune fetal hypothyroidism with goiter lack of standardization. Systematic follow‐up of clinical features related to thyroid hormonal ho
Externí odkaz:
https://doaj.org/article/314e409dd8a04a3c8453d229cfcbc175