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Items: 1 to 50 of 58

1.

Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability.

Gonçalves TF, Piergiorge RM, Dos Santos JM, Gusmão J, Pimentel MMG, Santos-Rebouças CB.

J Mol Neurosci. 2019 Feb;67(2):295-304. doi: 10.1007/s12031-018-1235-7. Epub 2019 Jan 3.

PMID:
30604382
2.

Hematological and biochemical profile of BALB/c nude and C57BL/6 SCID female mice after ovarian xenograft.

Fernandes DP, Pimentel MML, Santos FAD, Praxedes ÉA, Brito PD, Lima MA, Lelis ICNG, Macedo MF, Bezerra MB.

An Acad Bras Cienc. 2018 Oct-Dec;90(4):3941-3948. doi: 10.1590/0001-3765201820180586. Epub 2018 Oct 25.

3.

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

Voigt DD, Nascimento CM, de Souza RB, Cabello Acero PH, Campos Júnior M, da Silva CP, Pereira JS, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Della Coletta MV, da Silva DJ, Nicaretta DH, Gonçalves AP, Dos Santos JM, Calassara V, Santos-Rebouças CB, Pimentel MMG.

Neurobiol Aging. 2019 Feb;74:236.e7-236.e8. doi: 10.1016/j.neurobiolaging.2018.09.026. Epub 2018 Sep 27.

PMID:
30342766
4.

Equine chorionic gonadotrophin improved vascularization of feline ovarian tissue xenografted into immunosuppressed mice.

de Macêdo LB, Pimentel MML, Santos FAD, Bezerra MB, Ladd FVL, de Moura CEB.

Theriogenology. 2018 Nov;121:78-81. doi: 10.1016/j.theriogenology.2018.08.006. Epub 2018 Aug 14.

PMID:
30144734
5.

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

da Silva CP, de M Abreu G, Cabello Acero PH, Campos M Júnior, Pereira JS, de A Ramos SR, Nascimento CM, Voigt DD, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Nicaretta DH, Della Coletta MV, da Silva DJ, Gonçalves AP, Dos Santos JM, Calassara V, Valença DCT, de M Martins CJ, Santos-Rebouças CB, Pimentel MMG.

J Neurol Sci. 2017 Oct 15;381:160-164. doi: 10.1016/j.jns.2017.08.3249. Epub 2017 Aug 24.

PMID:
28991672
6.

rs3851179 Polymorphism at 5' to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population.

Santos-Rebouças CB, Gonçalves AP, Dos Santos JM, Abdala BB, Motta LB, Laks J, de Borges MB, de Rosso ALZ, Pereira JS, Nicaretta DH, Pimentel MMG.

Neuromolecular Med. 2017 Sep;19(2-3):293-299. doi: 10.1007/s12017-017-8444-z. Epub 2017 May 31.

PMID:
28567584
7.

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

Abreu GM, Valença DC, Campos M Júnior, da Silva CP, Pereira JS, Araujo Leite MA, Rosso AL, Nicaretta DH, Vasconcellos LF, da Silva DJ, Della Coletta MV, Dos Santos JM, Gonçalves AP, Santos-Rebouças CB, Pimentel MM.

Neurosci Lett. 2016 Dec 2;635:67-70. doi: 10.1016/j.neulet.2016.10.040. Epub 2016 Oct 21.

PMID:
27777137
8.

Follicular right shift: Xenografting queens' ovarian tissue into severe combined imunnodeficiency mice and its responses to exogenous gonadotropin.

Dos Santos FA, Pimentel MM, Teixeira AC, Cosmo ÍC, Lima MA, de Brito PD, de Macedo MF, Bezerra MB.

Theriogenology. 2016 Oct 15;86(7):1811-7. doi: 10.1016/j.theriogenology.2016.05.034. Epub 2016 Jun 6.

PMID:
27371971
9.

Levels of mannose-binding lectin in individuals with visceral leishmaniasis in the northeast region of Brazil.

da Silva EL, Campos Júnior M, Monteiro SG, Costa GC, Magalhães AL, Santos MD, Caldas AJ, Pimentel MM.

Genet Mol Res. 2015 Dec 29;14(4):19094-101. doi: 10.4238/2015.December.29.18.

10.

Finding FMR1 mosaicism in Fragile X syndrome.

Gonçalves TF, dos Santos JM, Gonçalves AP, Tassone F, Mendoza-Morales G, Ribeiro MG, Kahn E, Boy R, Pimentel MM, Santos-Rebouças CB.

Expert Rev Mol Diagn. 2016;16(4):501-7. doi: 10.1586/14737159.2016.1135739. Epub 2016 Feb 9.

11.

Circulating Endocannabinoids and the Polymorphism 385C>A in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Conducted in a Brazilian Population of Complex Interethnic Admixture.

Martins CJ, Genelhu V, Pimentel MM, Celoria BM, Mangia RF, Aveta T, Silvestri C, Di Marzo V, Francischetti EA.

PLoS One. 2015 Nov 11;10(11):e0142728. doi: 10.1371/journal.pone.0142728. eCollection 2015.

12.

Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil.

Viveiros MT, Santos MD, Dos Santos JM, Viveiros DM, Cavalcante MR, Caldas AJ, Pimentel MM.

Genet Mol Res. 2015 Jun 18;14(2):6897-905. doi: 10.4238/2015.June.18.32.

13.

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease.

Spitz M, Pereira JS, Nicareta DH, Abreu Gde M, Bastos EF, Seixas TL, Pimentel MM.

Parkinsonism Relat Disord. 2015 Jul;21(7):825-6. doi: 10.1016/j.parkreldis.2015.03.029. Epub 2015 May 2. No abstract available.

PMID:
25952961
14.

Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

Pimentel MM, Rodrigues FC, Leite MA, Campos Júnior M, Rosso AL, Nicaretta DH, Pereira JS, Silva DJ, Della Coletta MV, Vasconcellos LF, Abreu GM, Dos Santos JM, Santos-Rebouças CB.

Parkinsonism Relat Disord. 2015 Jun;21(6):586-9. doi: 10.1016/j.parkreldis.2015.03.011. Epub 2015 Mar 14.

PMID:
25817515
15.

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.

Santos-Rebouças CB, de Almeida LG, Belet S, Dos Santos SR, Ribeiro MG, da Silva AF, Medina-Acosta E, Dos Santos JM, Gonçalves AP, Bahia PR, Pimentel MM, Froyen G.

J Hum Genet. 2015 Apr;60(4):207-11. doi: 10.1038/jhg.2015.1. Epub 2015 Feb 5.

PMID:
25652354
16.

C-, Sr-isotope stratigraphy of carbonate rocks from the Southern Espinhaço Ridge, Minas Gerais, southeastern Brazil.

Fraga LMS, Neves SC, Uhlein A, Sial AN, Pimentel MM, Horn AH.

An Acad Bras Cienc. 2014 Jun;86(2):633-648.

17.

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

Gonçalves TF, Gonçalves AP, Fintelman Rodrigues N, dos Santos JM, Pimentel MM, Santos-Rebouças CB.

Eur J Med Genet. 2014 Mar;57(4):138-44. doi: 10.1016/j.ejmg.2014.02.011. Epub 2014 Feb 27. Review.

PMID:
24583395
18.

Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.

Moura KC, Campos Junior M, de Rosso AL, Nicaretta DH, Pereira JS, Silva DJ, dos Santos FL, Rodrigues Fda C, Santos-Rebouças CB, Pimentel MM.

Dis Markers. 2013;35(3):181-5. doi: 10.1155/2013/597158. Epub 2013 Aug 14.

19.

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

Santos-Rebouças CB, Belet S, Guedes de Almeida L, Ribeiro MG, Medina-Acosta E, Bahia PR, Alves da Silva AF, Lima dos Santos F, Borges de Lacerda GC, Pimentel MM, Froyen G.

Eur J Hum Genet. 2014 May;22(5):644-51. doi: 10.1038/ejhg.2013.216. Epub 2013 Oct 9.

20.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P.

Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.

21.

Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes.

Moura KC, Junior MC, de Rosso AL, Nicaretta DH, Pereira JS, José Silva D, Santos-Rebouças CB, Pimentel MM.

Dis Markers. 2012;32(3):173-8. doi: 10.3233/DMA-2011-0873.

22.

Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients.

Guimarães Bde C, Pereira AC, Rodrigues Fda C, dos Santos AV, Campos M Jr, dos Santos JM, dos Santos FL, de Rosso AL, Nicaretta DH, Pereira JS, da Silva DJ, Della Coletta MV, Santos-Rebouças CB, Pimentel MM.

Parkinsonism Relat Disord. 2012 Jun;18(5):688-9. doi: 10.1016/j.parkreldis.2011.11.028. Epub 2011 Dec 21. No abstract available.

PMID:
22192918
23.

A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder.

Campos M Jr, Pestana CP, dos Santos AV, Ponchel F, Churchman S, Abdalla-Carvalho CB, dos Santos JM, dos Santos FL, Gikovate CG, Santos-Rebouças CB, Pimentel MM.

Brain Dev. 2011 Nov;33(10):807-9. doi: 10.1016/j.braindev.2011.04.015. Epub 2011 May 19.

PMID:
21600714
24.

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.

Santos-Rebouças CB, Fintelman-Rodrigues N, Jensen LR, Kuss AW, Ribeiro MG, Campos M Jr, Santos JM, Pimentel MM.

Neurosci Lett. 2011 Jul 1;498(1):67-71. doi: 10.1016/j.neulet.2011.04.065. Epub 2011 May 6.

25.

MicroRNAs: macro challenges on understanding human biological functions and neurological diseases.

Santos-Rebouças CB, Pimentel MM.

Curr Mol Med. 2010 Nov;10(8):692-704. Review.

PMID:
20937025
26.

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.

Dos Santos AV, Pestana CP, Diniz KR, Campos M, Abdalla-Carvalho CB, de Rosso AL, Pereira JS, Nicaretta DH, de Carvalho WL, Dos Santos JM, Santos-Rebouças CB, Pimentel MM.

Neurosci Lett. 2010 Nov 19;485(2):121-4. doi: 10.1016/j.neulet.2010.08.083. Epub 2010 Sep 17.

PMID:
20816920
27.

Beta3-adrenergic receptor polymorphism is related to cardiometabolic risk factors in obese Brazilian subjects.

Genelhu VA, Francischetti EA, Duarte SF, Celoria BM, Oliveira RC, Cabello PH, Pimentel MM.

Genet Mol Res. 2010;9(3):1392-7.

28.

Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.

Abdalla-Carvalho CB, Santos-Rebouças CB, Guimarães BC, Campos M, Pereira JS, de Rosso AL, Nicaretta DH, Marinho e Silva M, dos Santos MJ, Pimentel MM.

Eur J Neurol. 2010 Dec;17(12):1479-81. doi: 10.1111/j.1468-1331.2010.03039.x.

PMID:
20443975
29.

LRRK2 p.G2019S mutation is not common among Alzheimer's disease patients in Brazil.

Santos-Rebouças CB, Abdalla CB, Martins PA, Baldi FJ, Santos JM, Motta LB, de Borges MB, Souza DR, de Souza Pinhel MA, Laks J, Pimentel MM.

Dis Markers. 2009;27(1):13-6. doi: 10.3233/DMA-2009-0641.

30.

High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.

Campos M Jr, Churchman SM, Santos-Rebouças CB, Ponchel F, Pimentel MM.

J Mol Neurosci. 2010 May;41(1):105-9. doi: 10.1007/s12031-009-9296-2. Epub 2009 Oct 6.

PMID:
19806472
31.

Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.

Fintelman-Rodrigues N, Corrêa JC, Santos JM, Pimentel MM, Santos-Rebouças CB.

Dis Markers. 2009;26(4):155-61. doi: 10.3233/DMA-2009-0626.

32.

Association of a common variant of the leptin gene with blood pressure in an obese Brazilian population.

Genelhu VA, Celoria BM, Pimentel MM, Duarte SF, Cabello PH, Francischetti EA.

Am J Hypertens. 2009 May;22(5):577-80. doi: 10.1038/ajh.2009.7. Epub 2009 Feb 19.

PMID:
19229195
33.

The impact of folate pathway polymorphisms combined to nutritional deficiency as a maternal predisposition factor for Down syndrome.

Santos-Rebouças CB, Corrêa JC, Bonomo A, Fintelman-Rodrigues N, Moura KC, Rodrigues CS, Santos JM, Pimentel MM.

Dis Markers. 2008;25(3):149-57.

34.

Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation.

Santos-Rebouças CB, Abdalla CB, Baldi FJ, Martins PA, Corrêa JC, Gonçalves AP, Cunha MS, Borges MB, Pereira JS, Laks J, Pimentel MM.

Genet Test. 2008 Dec;12(4):471-3. doi: 10.1089/gte.2008.0042. Review.

PMID:
19072560
35.

A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.

Campos M Jr, Abdalla CB, dos Santos AV, Pestana CP, dos Santos JM, Santos-Rebouças CB, Pimentel MM.

Brain Dev. 2009 Feb;31(2):176-8. doi: 10.1016/j.braindev.2008.07.001. Epub 2008 Aug 3.

PMID:
18678449
36.

LEPR p.Q223R, beta3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects.

Duarte SF, Francischetti EA, Genelhu VA, Cabello PH, Pimentel MM.

Genet Mol Res. 2007 Oct 5;6(4):1035-43.

37.

A study of LRRK2 mutations and Parkinson's disease in Brazil.

Pimentel MM, Moura KC, Abdalla CB, Pereira JS, de Rosso AL, Nicaretta DH, Campos M Jr, de Almeida RM, dos Santos JM, Bastos IC, Mendes MF, Maultasch H, Costa FH, Werneck AL, Santos-Rebouças CB.

Neurosci Lett. 2008 Mar 5;433(1):17-21. doi: 10.1016/j.neulet.2007.12.033. Epub 2007 Dec 23.

PMID:
18201824
38.

Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.

Campos M Jr, Abdalla CB, Santos-Rebouças CB, dos Santos AV, Pestana CP, Domingues ML, dos Santos JM, Pimentel MM.

Brain Dev. 2007 Jun;29(5):293-7. Epub 2006 Nov 3.

PMID:
17084570
39.

Implication of abnormal epigenetic patterns for human diseases.

Santos-Rebouças CB, Pimentel MM.

Eur J Hum Genet. 2007 Jan;15(1):10-7. Epub 2006 Oct 18. Review.

40.

Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.

de Souza Gestinari-Duarte R, Santos-Rebouças CB, Pimentel MM.

J Hum Genet. 2006;51(8):737-40. Epub 2006 Jul 15.

PMID:
16845484
41.

p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects.

Duarte SF, Francischetti EA, Genelhu-Abreu V, Barroso SG, Braga JU, Cabello PH, Pimentel MM.

Am J Hum Biol. 2006 Jul-Aug;18(4):448-53.

PMID:
16788891
42.

ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.

Gestinari-Duarte Rde S, Santos-Rebouças CB, Boy RT, Pimentel MM.

Eur J Med Genet. 2006 May-Jun;49(3):269-75. Epub 2005 Sep 26.

PMID:
16762829
43.

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat.

Santos-Rebouças CB, Abdalla CB, Fullston T, Campos M Jr, Pimentel MM, Gécz J.

Neurosci Lett. 2006 Apr 24;397(3):245-8. Epub 2006 Feb 15.

PMID:
16469443
44.

Sources of anthropogenic lead in sediments from an artificial lake in Brasília-central Brazil.

Gioia SM, Pimentel MM, Tessler M, Dantas EL, Campos JE, Guimarães EM, Maruoka MT, Nascimento EL.

Sci Total Environ. 2006 Mar 1;356(1-3):125-42. Epub 2005 Sep 21.

PMID:
16181662
45.

The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.

dos Santos JM, Abdalla CB, Campos M Jr, Santos-Rebouças CB, Pimentel MM.

Neurosci Lett. 2005 Apr 29;379(1):13-6. Epub 2005 Jan 12.

PMID:
15814190
46.

Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil.

Gestinari RS, Duarte SF, Pimentel MM, Lima MA.

Genet Test. 2004 Fall;8(3):281-5.

PMID:
15727252
47.

Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey.

Machado-Ferreira Mdo C, Costa-Lima MA, Boy RT, Esteves GS, Pimentel MM.

Am J Med Genet A. 2004 Apr 30;126A(3):237-40.

PMID:
15054835
48.

Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil.

Duarte SF, Gestinari RS, Campos Junior M, Pimentel MM, Lima MA.

Genet Mol Res. 2003 Dec 30;2(4):360-5.

49.

Dynamic mutation and human disorders: the spinocerebellar ataxias (review).

Costa Lima MA, Pimentel MM.

Int J Mol Med. 2004 Feb;13(2):299-302. Review.

PMID:
14719138
50.

De novo balanced translocation (2;10)(q24;q22) associated with mental retardation.

Santos CB, Discepoli G, Pigliapoco F, Boy R, Pimentel MM.

Ann Genet. 2003 Oct-Dec;46(4):471-3.

PMID:
14659784

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