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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Malfait F, et al. Among authors: goemans n. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. Orphanet J Rare Dis. 2013. PMID: 23692737 Free PMC article.
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
Brison N, Storms J, Villela D, Claeys KG, Dehaspe L, de Ravel T, De Waele L, Goemans N, Legius E, Peeters H, Van Esch H, Race V, Robert Vermeesch J, Devriendt K, Van Den Bogaert K. Brison N, et al. Among authors: goemans n. Genet Med. 2019 Dec;21(12):2774-2780. doi: 10.1038/s41436-019-0564-4. Epub 2019 Jun 14. Genet Med. 2019. PMID: 31197268 Free article.
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
Cances C, Vlodavets D, Comi GP, Masson R, Mazurkiewicz-Bełdzińska M, Saito K, Zanoteli E, Dodman A, El-Khairi M, Gorni K, Gravestock I, Hoffart J, Scalco RS, Darras BT; ANCHOVY Working Group. Cances C, et al. Orphanet J Rare Dis. 2022 Jul 29;17(1):300. doi: 10.1186/s13023-022-02455-x. Orphanet J Rare Dis. 2022. PMID: 35906608 Free PMC article.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: goemans n. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
163 results