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Page 1
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy.
Vulto-van Silfhout AT, Jazet IM, Yzer S, Pas J, Demirdas S, van Rossum EFC, Thiadens AAHJ, van Beek R, Haer-Wigman L, Barge-Schaapveld DQCM, Brasch-Andersen C, Frost S, Bauwens M, De Baere E, Balikova I, Van den Broeck F, Weisz-Hubshman M, Joset P, Miny P, Filges I, Kohl S, De Angeli P, Kühlewein L, Bodenbender JP, Haack T, Poths K, Fernandez-Caballero L, Corton M, Kelly FB, Ayuso C, Martínez-Esteban P, Vissing J, Díaz-Manera J, Straub V, Töpf A, Lin S, Arno G, Macken WL, Spillane J, Ramachandran R, de Vrieze E, van Ham T, Roosing S, Oud MM. Vulto-van Silfhout AT, et al. Among authors: demirdas s. Genet Med. 2025 Jun 28:101513. doi: 10.1016/j.gim.2025.101513. Online ahead of print. Genet Med. 2025. PMID: 40590205
Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.
van den Bersselaar LM, van de Laar IMBH, Baars MJH, Baas A, Dulfer E, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kauling RM, Kempers MJE, Oudijk MA, Maugeri A, Brüggenwirth HT, Houweling AC, Demirdas S. van den Bersselaar LM, et al. Among authors: demirdas s. BJOG. 2025 Mar 19. doi: 10.1111/1471-0528.18142. Online ahead of print. BJOG. 2025. PMID: 40104886
Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures.
van Gurp JE, Lechner RL, Micha D, Maugeri A, Dulfer E, van Dijk FS, Keszthelyi D, Malfatti E, Kubo A, Voermans NC, Demirdas S. van Gurp JE, et al. Among authors: demirdas s. Clin Transl Gastroenterol. 2025 Mar 1;16(3):e00821. doi: 10.14309/ctg.0000000000000821. Clin Transl Gastroenterol. 2025. PMID: 39807789 Free PMC article.
Genetic diagnosis of the Ehlers-Danlos syndromes.
Zschocke J, Demirdas S, van Dijk FS. Zschocke J, et al. Among authors: demirdas s. Med Genet. 2024 Dec 3;36(4):235-245. doi: 10.1515/medgen-2024-2061. eCollection 2024 Dec. Med Genet. 2024. PMID: 39629471 Free PMC article.
Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.
van Dijk FS, Angwin C, Demirdas S, Ghali N, Zschocke J. van Dijk FS, et al. Among authors: demirdas s. Med Genet. 2024 Dec 3;36(4):225-234. doi: 10.1515/medgen-2024-2060. eCollection 2024 Dec. Med Genet. 2024. PMID: 39629459 Free PMC article.
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Zerella JR, et al. Among authors: demirdas s. Blood. 2024 Oct 24;144(17):1765-1780. doi: 10.1182/blood.2024024607. Blood. 2024. PMID: 38991192 Free PMC article.
Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines.
Pezaro S, Brock I, Buckley M, Callaway S, Demirdas S, Hakim A, Harris C, High Gross C, Karanfil M, Le Ray I, McGillis L, Nasar B, Russo M, Ryan L, Blagowidow N. Pezaro S, et al. Among authors: demirdas s. PLoS One. 2024 May 15;19(5):e0302401. doi: 10.1371/journal.pone.0302401. eCollection 2024. PLoS One. 2024. PMID: 38748660 Free PMC article.
43 results