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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: carvalho ks. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Pode-Shakked B, et al. Among authors: carvalho ks. Clin Genet. 2017 May;91(5):725-738. doi: 10.1111/cge.12914. Epub 2016 Dec 16. Clin Genet. 2017. PMID: 27807845
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
Imitola J, Khurana DS, Teplyuk NM, Zucker M, Jethva R, Legido A, Krichevsky AM, Frangieh M, Walsh CA, Carvalho KS. Imitola J, et al. Among authors: carvalho ks. Am J Med Genet A. 2015 Nov;167A(11):2808-16. doi: 10.1002/ajmg.a.37268. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26238961 Free PMC article.
Significance of interictal occipital epileptiform discharges in children.
Wang C, Khurana DS, Kothare SV, Legido A, Harrison G, Carvalho KS, Valencia I. Wang C, et al. Among authors: carvalho ks. Epileptic Disord. 2010 Mar;12(1):59-64. doi: 10.1684/epd.2010.0296. Epub 2010 Mar 1. Epileptic Disord. 2010. PMID: 20194082 Free article.
Early-onset childhood absence epilepsy: is it a distinct entity?
Farooque P, Goraya J, Valencia I, Carvalho KS, Hardison HH, Legido A, Khurana DS. Farooque P, et al. Among authors: carvalho ks. Epileptic Disord. 2011 Dec;13(4):411-6. doi: 10.1684/epd.2011.0465. Epileptic Disord. 2011. PMID: 22258046 Free article.
63 results