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Items: 1 to 50 of 513

1.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

PMID:
31079897
2.

The function of long non-coding RNAs in vascular biology and disease.

Kok FO, Baker AH.

Vascul Pharmacol. 2019 Mar;114:23-30. doi: 10.1016/j.vph.2018.06.004. Review.

PMID:
30910128
3.

Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia.

Godeiro Junior CO, Vale TC, Afonso COM, Kok F, Pedroso JL, Barsottini OG.

Mov Disord Clin Pract. 2018 Mar 30;5(3):330-332. doi: 10.1002/mdc3.12610. eCollection 2018 May-Jun. No abstract available.

4.

Nurturing Children's Healthy Eating: Position statement.

Haines J, Haycraft E, Lytle L, Nicklaus S, Kok FJ, Merdji M, Fisberg M, Moreno LA, Goulet O, Hughes SO.

Appetite. 2019 Jun 1;137:124-133. doi: 10.1016/j.appet.2019.02.007. Epub 2019 Feb 21. Review.

5.

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F.

Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. eCollection 2019 Feb. No abstract available.

6.

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F.

Eur J Med Genet. 2019 Jan 25. pii: S1769-7212(18)30802-4. doi: 10.1016/j.ejmg.2019.01.014. [Epub ahead of print]

PMID:
30690204
7.

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.

Parkinsonism Relat Disord. 2018 Dec 23. pii: S1353-8020(18)30558-3. doi: 10.1016/j.parkreldis.2018.12.024. [Epub ahead of print]

PMID:
30638817
8.

Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.

Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT.

Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081.

PMID:
30620693
9.

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG.

Walker CP, Pessoa ALS, Figueiredo T, Rafferty M, Melo US, Nóbrega PR, Murphy N, Kok F, Zatz M, Santos S, Cho RY.

Orphanet J Rare Dis. 2019 Jan 7;14(1):3. doi: 10.1186/s13023-018-0977-1.

10.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.

Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3.

PMID:
30612693
11.

Peptide-functionalized supported lipid bilayers to construct cell membrane mimicking interfaces.

Kilic A, Kok FN.

Colloids Surf B Biointerfaces. 2019 Apr 1;176:18-26. doi: 10.1016/j.colsurfb.2018.12.052. Epub 2018 Dec 19.

PMID:
30590345
12.

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations.

de Farias AA, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US, Zatz M, Kok F, Santos S.

Sci Rep. 2018 Nov 8;8(1):16552. doi: 10.1038/s41598-018-35022-1.

13.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

14.

Magnesium doping on TiN coatings affects mesenchymal stem cell differentiation and proliferation positively in a dose-dependent manner.

Onder S, Calikoglu-Koyuncu AC, Kazmanli K, Urgen M, Kok FN, Torun-Kose G.

Biomed Mater Eng. 2018;29(4):427-438. doi: 10.3233/BME-181000.

PMID:
30282341
15.

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.

Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F.

Clin Genet. 2018 Nov;94(5):482-483. doi: 10.1111/cge.13428. Epub 2018 Sep 10. No abstract available.

PMID:
30198554
16.

Oxidative damage in glutaric aciduria type I patients and the protective effects of l-carnitine treatment.

Guerreiro G, Faverzani J, Jacques CED, Marchetti DP, Sitta A, de Moura Coelho D, Kayser A, Kok F, Athayde L, Manfredini V, Wajner M, Vargas CR.

J Cell Biochem. 2018 Dec;119(12):10021-10032. doi: 10.1002/jcb.27332. Epub 2018 Aug 20.

PMID:
30129250
17.

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, de 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 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172.

PMID:
30010796
18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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
24.

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.

25.

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
26.

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
27.

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.

28.

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
29.

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
30.

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
31.

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.

32.

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.

33.

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
34.

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
35.

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
36.

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.

37.

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.

38.

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.

39.

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
40.

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.

41.

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.

42.

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.

43.

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.

44.

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.

45.

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.

46.

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
47.

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.

48.

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
49.

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
50.

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.

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