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540 results
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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.
Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Varela MC, et al. Among authors: kok f. Clin Genet. 2005 Jan;67(1):47-52. doi: 10.1111/j.1399-0004.2005.00377.x. Clin Genet. 2005. PMID: 15617548
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
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Macedo-Souza LI, et al. Among authors: kok f. Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4. Ann Hum Genet. 2009. PMID: 19344448
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Among authors: kok f. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
Fagali C, Kok F, Nicola P, Kim C, Bertola D, Albano L, Koiffmann CP. Fagali C, et al. Among authors: kok f. Eur J Med Genet. 2009 Sep-Oct;52(5):333-6. doi: 10.1016/j.ejmg.2009.07.001. Epub 2009 Jul 9. Eur J Med Genet. 2009. PMID: 19596467
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M. Mitne-Neto M, et al. Among authors: kok f. Eur J Hum Genet. 2007 Dec;15(12):1276-9. doi: 10.1038/sj.ejhg.5201924. Epub 2007 Sep 26. Eur J Hum Genet. 2007. PMID: 17895902
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. Starling A, et al. Among authors: kok f. Eur J Hum Genet. 2004 Dec;12(12):1033-40. doi: 10.1038/sj.ejhg.5201289. Eur J Hum Genet. 2004. PMID: 15367920
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M. Nishimura AL, et al. Among authors: kok f. Am J Hum Genet. 2004 Nov;75(5):822-31. doi: 10.1086/425287. Epub 2004 Sep 15. Am J Hum Genet. 2004. PMID: 15372378 Free PMC article.
Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.
Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F. Pedroso JL, et al. Among authors: kok f. Neurol Genet. 2015 Oct 22;1(4):e30. doi: 10.1212/NXG.0000000000000030. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066567 Free PMC article.
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW, Chavan V, Elias AF, Hudson C, Schwanke C, Styren K, Shoof J, Kok F, Srivastava S, Mukherjee K. LaConte LEW, et al. Among authors: kok f. Hum Genet. 2018 Mar;137(3):231-246. doi: 10.1007/s00439-018-1874-3. Epub 2018 Feb 9. Hum Genet. 2018. PMID: 29426960 Free PMC article.
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