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Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.
Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G. Reis AF, et al. Among authors: kok f. Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7. Pediatr Diabetes. 2011. PMID: 21518408
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.
Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF. Della Manna T, et al. Among authors: kok f. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1350-5. doi: 10.1590/s0004-27302008000800024. Arq Bras Endocrinol Metabol. 2008. PMID: 19169493
Cockayne syndrome type A: novel mutations in eight typical patients.
Bertola DR, Cao H, Albano LMJ, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA. Bertola DR, et al. Among authors: kok f. J Hum Genet. 2006;51(8):701-705. doi: 10.1007/s10038-006-0011-7. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865293
Autosomal recessive ataxias: 20 types, and counting.
Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Embiruçu EK, et al. Among authors: kok f. Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. doi: 10.1590/s0004-282x2009000600036. Arq Neuropsiquiatr. 2009. PMID: 20069237 Free article. Review.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: kok f. Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523599 Free PMC article.
One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.
Abrahao A, Abath Neto O, Kok F, Zanoteli E, Santos B, Pinto WB, Barsottini OG, Oliveira AS, Pedroso JL. Abrahao A, et al. Among authors: kok f. J Neurol Sci. 2016 Sep 15;368:352-8. doi: 10.1016/j.jns.2016.07.048. Epub 2016 Jul 21. J Neurol Sci. 2016. PMID: 27538664
613 results