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Items: 1 to 50 of 497

1.

A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F.

Brain. 2018 Jul 13. doi: 10.1093/brain/awy172. [Epub ahead of print]

PMID:
30010796
2.

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.

Paiva ARB, Melo US, Freua F, Dória D, Cabral KSS, Macedo-Souza LI, Lucato LT, Kok F.

Arq Neuropsiquiatr. 2018 Apr;76(4):283. doi: 10.1590/0004-282x20180024. No abstract available.

3.

When multiple sclerosis and X-linked adrenoleukodystrophy are tangled: A challenging case.

Brandão de Paiva AR, Pucci Filho CR, Porto AM, Feltrin FS, Kok F, Camargo CHF.

Neurol Clin Pract. 2018 Apr;8(2):156-158. doi: 10.1212/CPJ.0000000000000431. No abstract available.

PMID:
29708222
4.

The effect of vitamin B12 and folic acid supplementation on routine haematological parameters in older people: an individual participant data meta-analysis.

Smelt AF, Gussekloo J, Bermingham LW, Allen E, Dangour AD, Eussen SJ, Favrat B, De Groot LC, Kok FJ, Kwok T, Mangoni AA, Ntaios G, Van De Rest O, Seal E, Vaucher P, Verhoef P, Stijnen T, Den Elzen WP.

Eur J Clin Nutr. 2018 Jun;72(6):785-795. doi: 10.1038/s41430-018-0118-x. Epub 2018 Mar 8. Review.

PMID:
29520083
5.

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

D'Angelo CS, Varela MC, de Castro CIE, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP.

Mol Cytogenet. 2018 Feb 5;11:14. doi: 10.1186/s13039-018-0363-7. eCollection 2018.

6.

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.

Hum Genet. 2018 Mar;137(3):231-246. doi: 10.1007/s00439-018-1874-3. Epub 2018 Feb 9.

PMID:
29426960
7.

Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation.

Fernandes JF, Bonfim C, Kerbauy FR, Rodrigues M, Esteves I, Silva NH, Azambuja AP, Mantovani LF, Kutner JM, Loth G, Kuwahara CC, Bueno C, Kondo AT, Ribeiro AAF, Kok F, Hamerschlak N.

Bone Marrow Transplant. 2018 Apr;53(4):392-399. doi: 10.1038/s41409-017-0015-2. Epub 2018 Jan 12.

PMID:
29330393
8.

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy.

Calhoun JD, Vanoye CG, Kok F, George AL Jr, Kearney JA.

Neurol Genet. 2017 Dec 11;3(6):e198. doi: 10.1212/NXG.0000000000000198. eCollection 2017 Dec.

9.

Quartz crystal microbalance with dissipation as a biosensing platform to evaluate cell-surface interactions of osteoblast cells.

Kılıç A, Kok FN.

Biointerphases. 2017 Dec 12;13(1):011001. doi: 10.1116/1.5000752.

PMID:
29232957
10.

Teaching NeuroImages: Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype.

Rocha E, Vale TC, Kok F, Pedroso JL, Barsottini OG.

Neurology. 2017 Oct 10;89(15):e192. doi: 10.1212/WNL.0000000000004497. Epub 2017 Oct 9. No abstract available.

PMID:
28993536
11.

The potential contribution of yellow cassava to dietary nutrient adequacy of primary-school children in Eastern Kenya; the use of linear programming.

Talsma EF, Borgonjen-van den Berg KJ, Melse-Boonstra A, Mayer EV, Verhoef H, Demir AY, Ferguson EL, Kok FJ, Brouwer ID.

Public Health Nutr. 2018 Feb;21(2):365-376. doi: 10.1017/S1368980017002506. Epub 2017 Oct 2.

PMID:
28965533
12.

The effect of thiolated phospholipids on formation of supported lipid bilayers on gold substrates investigated by surface-sensitive methods.

Kılıç A, Fazeli Jadidi M, Özer HÖ, Kök FN.

Colloids Surf B Biointerfaces. 2017 Dec 1;160:117-125. doi: 10.1016/j.colsurfb.2017.09.016. Epub 2017 Sep 8.

PMID:
28918188
13.

Associations between dietary factors and markers of NAFLD in a general Dutch adult population.

Rietman A, Sluik D, Feskens EJM, Kok FJ, Mensink M.

Eur J Clin Nutr. 2018 Jan;72(1):117-123. doi: 10.1038/ejcn.2017.148. Epub 2017 Sep 13.

PMID:
28901337
14.

Santos syndrome is caused by mutation in the WNT7A gene.

Alves LU, Santos S, Musso CM, Ezquina SA, Opitz JM, Kok F, Otto PA, Mingroni-Netto RC.

J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31.

PMID:
28855715
15.

CRISPR/Cas9 editing reveals novel mechanisms of clustered microRNA regulation and function.

Lataniotis L, Albrecht A, Kok FO, Monfries CAL, Benedetti L, Lawson ND, Hughes SM, Steinhofel K, Mayr M, Zampetaki A.

Sci Rep. 2017 Aug 17;7(1):8585. doi: 10.1038/s41598-017-09268-0.

16.

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease.

Smid J, Studart A Neto, Landemberger MC, Machado CF, Nóbrega PR, Canedo NHS, Schultz RR, Naslavsky MS, Rosemberg S, Kok F, Chimelli L, Martins VR, Nitrini R.

Arq Neuropsiquiatr. 2017 Jun;75(6):331-338. doi: 10.1590/0004-282X20170049.

17.

Role of STRO-1 sorting of porcine dental germ stem cells in dental stem cell-mediated bone tissue engineering.

Gurel Pekozer G, Ramazanoglu M, Schlegel KA, Kok FN, Torun Kose G.

Artif Cells Nanomed Biotechnol. 2018 May;46(3):607-618. doi: 10.1080/21691401.2017.1332637. Epub 2017 May 31.

PMID:
28562085
18.

Severe hypovitaminosis D in active tuberculosis patients and its predictors.

Wang Q, Liu Y, Ma Y, Han L, Dou M, Zou Y, Sun L, Tian H, Li T, Jiang G, Du B, Kou T, Song J, Kok FJ, Schouten EG.

Clin Nutr. 2018 Jun;37(3):1034-1040. doi: 10.1016/j.clnu.2017.04.018. Epub 2017 Apr 30.

PMID:
28514999
19.

Perception in attention deficit hyperactivity disorder.

Fuermaier ABM, Hüpen P, De Vries SM, Müller M, Kok FM, Koerts J, Heutink J, Tucha L, Gerlach M, Tucha O.

Atten Defic Hyperact Disord. 2018 Mar;10(1):21-47. doi: 10.1007/s12402-017-0230-0. Epub 2017 Apr 11. Review.

PMID:
28401487
20.

Clinical and genetic characterization of leukoencephalopathies in adults.

Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H.

Brain. 2017 May 1;140(5):1204-1211. doi: 10.1093/brain/awx045.

21.

Association between body mass index and diabetes mellitus in tuberculosis patients in China: a community based cross-sectional study.

Cai J, Ma A, Wang Q, Han X, Zhao S, Wang Y, Schouten EG, Kok FJ.

BMC Public Health. 2017 Feb 28;17(1):228. doi: 10.1186/s12889-017-4101-6.

22.

Is low serum 25-hydroxyvitamin D a possible link between pulmonary tuberculosis and type 2 diabetes?

Wang Q, Ma A, Han X, Zhang H, Zhao S, Liang H, Cai J, Kok FJ, Schouten EG.

Asia Pac J Clin Nutr. 2017 Mar;26(2):241-246. doi: 10.6133/apjcn.032016.02.

23.

Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.

Vaisbich MH, Braga A, Gabrielle M, Bueno C, Piazzon F, Kok F.

Pediatr Nephrol. 2017 Jun;32(6):1089-1092. doi: 10.1007/s00467-017-3615-6. Epub 2017 Feb 16.

PMID:
28210839
24.

Correction: Vegfc acts through ERK to induce sprouting and differentiation of trunk lymphatic progenitors.

Shin M, Male I, Beane TJ, Villefranc JA, Kok FO, Zhu LJ, Lawson ND.

Development. 2017 Feb 1;144(3):531. doi: 10.1242/dev.148569. No abstract available.

25.

A review of total & added sugar intakes and dietary sources in Europe.

Azaïs-Braesco V, Sluik D, Maillot M, Kok F, Moreno LA.

Nutr J. 2017 Jan 21;16(1):6. doi: 10.1186/s12937-016-0225-2. Review.

26.

Folate and Vitamin B12-Related Biomarkers in Relation to Brain Volumes.

van der Zwaluw NL, Brouwer-Brolsma EM, van de Rest O, van Wijngaarden JP, In 't Veld PH, Kourie DI, Swart KM, Enneman AW, van Dijk SC, van der Velde N, Kessels RP, Smeets PA, Kok FJ, Dhonukshe-Rutten RA, de Groot LC.

Nutrients. 2016 Dec 24;9(1). pii: E8. doi: 10.3390/nu9010008.

27.

Problematic Peer Functioning in Girls with ADHD: A Systematic Literature Review.

Kok FM, Groen Y, Fuermaier AB, Tucha O.

PLoS One. 2016 Nov 21;11(11):e0165119. doi: 10.1371/journal.pone.0165119. eCollection 2016. Review.

28.

Vegfc acts through ERK to induce sprouting and differentiation of trunk lymphatic progenitors.

Shin M, Male I, Beane TJ, Villefranc JA, Kok FO, Zhu LJ, Lawson ND.

Development. 2016 Oct 15;143(20):3785-3795. Epub 2016 Sep 12. Erratum in: Development. 2017 Feb 1;144(3):531.

29.

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, Coban Akdemir ZH, 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.

Am J Hum Genet. 2016 Sep 1;99(3):786. doi: 10.1016/j.ajhg.2016.08.011. Epub 2016 Sep 1. No abstract available.

30.

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.

J Neurol Sci. 2016 Sep 15;368:352-8. doi: 10.1016/j.jns.2016.07.048. Epub 2016 Jul 21.

PMID:
27538664
31.

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.

Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Erratum in: Am J Hum Genet. 2016 Sep 1;99(3):786.

32.

Hyperglycemia is associated with increased risk of patient delay in pulmonary tuberculosis in rural areas.

Wang Q, Ma A, Han X, Zhao S, Cai J, Kok FJ, Schouten EG.

J Diabetes. 2017 Jul;9(7):648-655. doi: 10.1111/1753-0407.12459. Epub 2016 Sep 20.

PMID:
27508345
33.

SCA23 and prodynorphin: is it time for gene retraction?

Pedroso JL, Vale TC, Freua F, Barsottini OG, Kok F.

Brain. 2016 Aug;139(Pt 8):e42. doi: 10.1093/brain/aww093. Epub 2016 May 1. No abstract available.

PMID:
27190015
34.

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.

de Gusmao CM, Kok F, Casella EB, Waugh JL.

Neurol Genet. 2015 Dec 22;2(1):e40. doi: 10.1212/NXG.0000000000000040. eCollection 2016 Feb.

35.

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.

Neurol Genet. 2015 Oct 22;1(4):e30. doi: 10.1212/NXG.0000000000000030. eCollection 2015 Dec.

36.

Self-Reported Empathy in Adult Women with Autism Spectrum Disorders - A Systematic Mini Review.

Kok FM, Groen Y, Becke M, Fuermaier AB, Tucha O.

PLoS One. 2016 Mar 21;11(3):e0151568. doi: 10.1371/journal.pone.0151568. eCollection 2016. Review.

37.

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.

de Paiva AR, Freua F, Lucato LT, Parmera J, Dória D, Nóbrega PR, Olávio TR, Macedo-Souza LI, Kok F.

J Neurol. 2016 Apr;263(4):821-2. doi: 10.1007/s00415-016-8065-8. Epub 2016 Feb 25. No abstract available.

PMID:
26914930
38.

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

Fonseca AC, Bonaldi A, Fonseca SA, Otto PA, Kok F, Bak M, Tommerup N, Vianna-Morgante AM.

Mol Cytogenet. 2015 Dec 30;8:106. doi: 10.1186/s13039-015-0205-9. eCollection 2015.

39.

Here comes the sun: the era of genetics.

Kok F.

Arq Neuropsiquiatr. 2015 Nov;73(11):895-6. doi: 10.1590/0004-282X20150166. No abstract available.

40.

Registration and management of community patients with tuberculosis in north-west China.

Wang X, Cai J, Wang D, Wang Q, Liang H, Ma A, Schouten EG, Kok FJ.

Public Health. 2015 Dec;129(12):1585-90. doi: 10.1016/j.puhe.2015.09.005. Epub 2015 Oct 21.

PMID:
26506453
41.

Is consuming yoghurt associated with weight management outcomes? Results from a systematic review.

Eales J, Lenoir-Wijnkoop I, King S, Wood H, Kok FJ, Shamir R, Prentice A, Edwards M, Glanville J, Atkinson RL.

Int J Obes (Lond). 2016 May;40(5):731-46. doi: 10.1038/ijo.2015.202. Epub 2015 Oct 7. Review.

42.

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S.

Mol Psychiatry. 2016 Aug;21(8):1125-9. doi: 10.1038/mp.2015.150. Epub 2015 Sep 29.

PMID:
26416544
43.

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.

Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18.

PMID:
26385635
44.

Chronic stage of Marchiafava-Bignami disease.

Lucato LT, Freua F, Kok F.

Arq Neuropsiquiatr. 2015 Oct;73(10):890. doi: 10.1590/0004-282X20150103. Epub 2015 Aug 11. No abstract available.

45.

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH.

Hum Mutat. 2015 Nov;36(11):1048-51. doi: 10.1002/humu.22856. Epub 2015 Aug 27.

46.

Rheumatoid arthritis-associated autoantibodies in non-rheumatoid arthritis patients with mucosal inflammation: a case-control study.

Janssen KM, de Smit MJ, Brouwer E, de Kok FA, Kraan J, Altenburg J, Verheul MK, Trouw LA, van Winkelhoff AJ, Vissink A, Westra J.

Arthritis Res Ther. 2015 Jul 9;17:174. doi: 10.1186/s13075-015-0690-6.

47.

Employing TDMA Protocol in Neural Nanonetworks in Case of Neuron Specific Faults.

Tezcan H, Oktug SF, Kök FN.

IEEE Trans Nanobioscience. 2015 Sep;14(6):572-80. doi: 10.1109/TNB.2015.2451086. Epub 2015 Jul 1.

PMID:
26151941
48.

A platform for reverse genetics in endothelial cells.

Kok FO, Lawson ND.

Circ Res. 2015 Jul 3;117(2):107-8. doi: 10.1161/CIRCRESAHA.117.306816. No abstract available.

49.

Survival and associated mortality risk factors among post-treatment pulmonary tubercolosis patients in the northwest of China.

Wang XH, Ma AG, Han XX, Liang H, Wang D, Schouten E, Kok F.

Eur Rev Med Pharmacol Sci. 2015;19(11):2016-25.

50.

Recommended intakes of vitamin D to optimise health, associated circulating 25-hydroxyvitamin D concentrations, and dosing regimens to treat deficiency: workshop report and overview of current literature.

Balvers MG, Brouwer-Brolsma EM, Endenburg S, de Groot LC, Kok FJ, Gunnewiek JK.

J Nutr Sci. 2015 May 25;4:e23. doi: 10.1017/jns.2015.10. eCollection 2015. Review.

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