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Page 1
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. Persani L, et al. Among authors: gheldof a. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36228316 Free PMC article.
A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.
Van Der Kelen A, Okutman Ö, Javey E, Serdarogullari M, Janssens C, Ghosh MS, Dequeker BJH, Perold F, Kastner C, Kieffer E, Segers I, Gheldof A, Hes FJ, Sermon K, Verpoest W, Viville S. Van Der Kelen A, et al. Among authors: gheldof a. Hum Reprod Update. 2023 Mar 1;29(2):218-232. doi: 10.1093/humupd/dmac044. Hum Reprod Update. 2023. PMID: 36571510
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
Smeets N, Gheldof A, Dequeker B, Poleur M, Maldonado Slootjes S, Van Parijs V, Deconinck N, Dontaine P, Alonso-Jimenez A, De Bleecker J, De Ridder W, Herdewyn S, Paquay S, Vanlander A, De Waele L, Peirens G, Beysen D, Claeys KG, Dubuisson N, Hansen I, Remiche G, Seneca S, Bissay V, Régal L. Smeets N, et al. Among authors: gheldof a. Pediatr Neurol. 2024 Sep;158:57-65. doi: 10.1016/j.pediatrneurol.2024.06.002. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38964204
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome.
Stouffs K, Daelemans S, Santos-Ribeiro S, Seneca S, Gheldof A, Gürbüz AS, De Vos M, Tournaye H, Blockeel C. Stouffs K, et al. Among authors: gheldof a. J Assist Reprod Genet. 2019 Mar;36(3):491-497. doi: 10.1007/s10815-018-1372-5. Epub 2018 Nov 27. J Assist Reprod Genet. 2019. PMID: 30483911 Free PMC article.
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
Stouffs K, Gheldof A, Tournaye H, Vandermaelen D, Bonduelle M, Lissens W, Seneca S. Stouffs K, et al. Among authors: gheldof a. Biomed Res Int. 2016;2016:6191307. doi: 10.1155/2016/6191307. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925412 Free PMC article.
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
Vandervore L, Stouffs K, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC. Vandervore L, et al. Among authors: gheldof a. J Med Genet. 2017 Jun;54(6):432-440. doi: 10.1136/jmedgenet-2016-104421. Epub 2017 Mar 3. J Med Genet. 2017. PMID: 28258187
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A, Seneca S, Stouffs K, Lissens W, Jansen A, Laeremans H, Verloo P, Schoonjans AS, Meuwissen M, Barca D, Martens G, De Meirleir L. Gheldof A, et al. Mol Genet Genomic Med. 2019 Feb;7(2):e00527. doi: 10.1002/mgg3.527. Epub 2018 Dec 11. Mol Genet Genomic Med. 2019. PMID: 30548430 Free PMC article.
31 results