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LAD-1/variant syndrome is caused by mutations in FERMT3.
Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F. Kuijpers TW, et al. Among authors: baas f. Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8. Blood. 2009. PMID: 19064721 Free article.
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.
Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG. Kuijpers TW, et al. Among authors: baas f. Blood. 2004 May 15;103(10):3915-23. doi: 10.1182/blood-2003-11-3940. Epub 2004 Feb 5. Blood. 2004. PMID: 14764526 Free article.
Genetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathy.
Kuitwaard K, van Doorn PA, Bengrine T, van Rijs W, Baas F, Nagelkerke SQ, Kuijpers TW, Fokkink WR, Bunschoten C, Broers MC, Willemsen SP, Jacobs BC, Huizinga R. Kuitwaard K, et al. Among authors: baas f. Eur J Neurol. 2021 May;28(5):1677-1683. doi: 10.1111/ene.14742. Epub 2021 Feb 6. Eur J Neurol. 2021. PMID: 33460483 Free PMC article.
RELN rare variants in myoclonus-dystonia.
Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
408 results