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Items: 1 to 50 of 257

1.

A fast degrading PLLA composite with a high content of functionalized octacalcium phosphate mineral phase induces stem cells differentiation.

Souza DC, Abreu HLV, Oliveira PV, Capelo LP, Passos-Bueno MR, Catalani LH.

J Mech Behav Biomed Mater. 2019 Feb 6;93:93-104. doi: 10.1016/j.jmbbm.2019.02.003. [Epub ahead of print]

PMID:
30776679
2.

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC.

Epigenomics. 2019 Feb;11(2):133-145. doi: 10.2217/epi-2018-0091. Epub 2019 Jan 14.

3.

Development of a comprehensive noninvasive prenatal test.

Malcher C, Yamamoto GL, Burnham P, Ezquina SAM, Lourenço NCV, Balkassmi S, Antonio DSM, Hsia GSP, Gollop T, Pavanello RC, Lopes MA, Bakker E, Zatz M, Bertola D, Vlaminck I, Passos-Bueno MR.

Genet Mol Biol. 2018 Jul/Sept.;41(3):545-554. doi: 10.1590/1678-4685-GMB-2017-0177. Epub 2018 Jul 16.

4.

Actin cytoskeleton dynamics in stem cells from autistic individuals.

Griesi-Oliveira K, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, Magalhães YT, Forti FL, Sertie AL, Zachi EC, Vadasz E, Passos-Bueno MR.

Sci Rep. 2018 Jul 24;8(1):11138. doi: 10.1038/s41598-018-29309-6.

5.

Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.

Sánchez-Sánchez SM, Magdalon J, Griesi-Oliveira K, Yamamoto GL, Santacruz-Perez C, Fogo M, Passos-Bueno MR, Sertié AL.

Hum Mutat. 2018 Oct;39(10):1372-1383. doi: 10.1002/humu.23584. Epub 2018 Jul 26.

PMID:
29969175
6.

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR.

Front Genet. 2018 Apr 25;9:149. doi: 10.3389/fgene.2018.00149. eCollection 2018.

7.

Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, da Silva SG, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M.

Nat Commun. 2018 Mar 13;9(1):1114. doi: 10.1038/s41467-018-03497-1.

8.

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Ceroni JR, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR.

Genet Mol Biol. 2018 Jan-Mar;41(1):85-91. doi: 10.1590/1678-4685-GMB-2017-0172. Epub 2018 Feb 19.

9.

Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth.

Kague E, Witten PE, Soenens M, Campos CL, Lubiana T, Fisher S, Hammond C, Brown KR, Passos-Bueno MR, Huysseune A.

Dev Biol. 2018 Mar 15;435(2):176-184. doi: 10.1016/j.ydbio.2018.01.021. Epub 2018 Feb 2.

10.

Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, Gomes da Silva S, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M.

Nat Commun. 2018 Feb 2;9(1):475. doi: 10.1038/s41467-017-02790-9. Erratum in: Nat Commun. 2018 Mar 13;9(1):1114.

11.

Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Bertola DR, Hsia G, Alvizi L, Gardham A, Wakeling EL, Yamamoto GL, Honjo RS, Oliveira LAN, Di Francesco RC, Perez BA, Kim CA, Passos-Bueno MR.

Clin Genet. 2018 Apr;93(4):800-811. doi: 10.1111/cge.13169. Epub 2018 Feb 20.

PMID:
29112243
12.

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

Masotti C, Brito LA, Nica AC, Ludwig KU, Nunes K, Savastano CP, Malcher C, Ferreira SG, Kobayashi GS, Bueno DF, Alonso N, Franco D, Rojas-Martinez A, Dos Santos SE, Galante PA, Meyer D, Hünemeier T, Mangold E, Dermitzakis ET, Passos-Bueno MR.

J Dent Res. 2018 Jan;97(1):33-40. doi: 10.1177/0022034517735805. Epub 2017 Oct 20.

PMID:
29053389
13.

CD105 is regulated by hsa-miR-1287 and its expression is inversely correlated with osteopotential in SHED.

Ishiy FAA, Fanganiello RD, Kobayashi GS, Kague E, Kuriki PS, Passos-Bueno MR.

Bone. 2018 Jan;106:112-120. doi: 10.1016/j.bone.2017.10.014. Epub 2017 Oct 13.

PMID:
29033380
14.

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.

Alvizi L, Ke X, Brito LA, Seselgyte R, Moore GE, Stanier P, Passos-Bueno MR.

Sci Rep. 2017 May 26;7(1):2441. doi: 10.1038/s41598-017-02721-0.

15.

Posttranscriptional Interaction Between miR-450a-5p and miR-28-5p and STAT1 mRNA Triggers Osteoblastic Differentiation of Human Mesenchymal Stem Cells.

Dernowsek JA, Pereira MC, Fornari TA, Macedo C, Assis AF, Donate PB, Bombonato-Prado KF, Passos-Bueno MR, Passos GA.

J Cell Biochem. 2017 Nov;118(11):4045-4062. doi: 10.1002/jcb.26060. Epub 2017 May 23.

PMID:
28407302
16.

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, de Caires LC Jr, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL.

Hum Mol Genet. 2017 Jun 15;26(12):2177-2191. doi: 10.1093/hmg/ddx078.

17.

Exomic variants of an elderly cohort of Brazilians in the ABraOM database.

Naslavsky MS, Yamamoto GL, de Almeida TF, Ezquina SAM, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Lazar M, Bernardo DV, Amaro E Jr, Duarte YAO, Lebrão ML, Passos-Bueno MR, Zatz M.

Hum Mutat. 2017 Jul;38(7):751-763. doi: 10.1002/humu.23220. Epub 2017 May 3.

PMID:
28332257
18.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR.

Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101.

PMID:
28328130
19.

Importance of Zinc Transporter 8 Autoantibody in the Diagnosis of Type 1 Diabetes in Latin Americans.

Gomes KF, Semzezem C, Batista R, Fukui RT, Santos AS, Correia MR, Passos-Bueno MR, Silva ME.

Sci Rep. 2017 Mar 16;7(1):207. doi: 10.1038/s41598-017-00307-4.

20.

The influence of population stratification on genetic markers associated with type 1 diabetes.

Gomes KF, Santos AS, Semzezem C, Correia MR, Brito LA, Ruiz MO, Fukui RT, Matioli SR, Passos-Bueno MR, Silva ME.

Sci Rep. 2017 Mar 6;7:43513. doi: 10.1038/srep43513.

21.

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C.

Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070. Review.

PMID:
28211982
22.

Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.

Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H.

PLoS One. 2017 Jan 24;12(1):e0170386. doi: 10.1371/journal.pone.0170386. eCollection 2017.

23.

Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.

de Peralta MS, Mouguelar VS, Sdrigotti MA, Ishiy FA, Fanganiello RD, Passos-Bueno MR, Coux G, Calcaterra NB.

Cell Death Dis. 2016 Oct 6;7(10):e2397. doi: 10.1038/cddis.2016.299.

24.

Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Zatz M, Passos-Bueno MR, Vainzof M.

Genet Mol Biol. 2016 Jul-Sep;39(3):339-48. doi: 10.1590/1678-4685-GMB-2016-0019.

25.

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

Savastano CP, Brito LA, Faria ÁC, Setó-Salvia N, Peskett E, Musso CM, Alvizi L, Ezquina SA, James C, GOSgene, Beales P, Lees M, Moore GE, Stanier P, Passos-Bueno MR.

Clin Genet. 2017 May;91(5):683-689. doi: 10.1111/cge.12823. Epub 2016 Jul 26.

PMID:
27350171
26.

Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome.

Yeh E, Atique R, Fanganiello RD, Sunaga DY, Ishiy FA, Passos-Bueno MR.

Stem Cells Dev. 2016 Aug 15;25(16):1249-60. doi: 10.1089/scd.2016.0018. Epub 2016 Jun 23.

PMID:
27339175
27.

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

Fernandes MB, Maximino LP, Perosa GB, Abramides DV, Passos-Bueno MR, Yacubian-Fernandes A.

Am J Med Genet A. 2016 Jun;170(6):1532-7. doi: 10.1002/ajmg.a.37640. Epub 2016 Mar 30.

PMID:
27028366
28.

Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

Faria ÁC, Rabbi-Bortolini E, Rebouças MRGO, de S Thiago Pereira ALA, Frasson MGT, Atique R, Lourenço NCV, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FIV.

Am J Med Genet A. 2016 Feb;170A(2):403-409. doi: 10.1002/ajmg.a.37448. Epub 2015 Nov 14.

PMID:
26566760
29.

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.

Hatagami Marques J, Lopes Yamamoto G, de Cássia Testai L, da Costa Pereira A, Kim CA, Passos-Bueno MR, Romeo Bertola D.

Mol Syndromol. 2015 Jul;6(2):87-90. doi: 10.1159/000407418. Epub 2015 May 27.

30.

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, Alvizi L, Kobayashi GS, Naslavsky MS, Alonso N, Felix TM, Zatz M, Seruca R, Passos-Bueno MR.

Hum Mutat. 2015 Nov;36(11):1029-33. doi: 10.1002/humu.22827. Epub 2015 Aug 3.

PMID:
26123647
31.

Increased In Vitro Osteopotential in SHED Associated with Higher IGF2 Expression When Compared with hASCs.

Fanganiello RD, Ishiy FA, Kobayashi GS, Alvizi L, Sunaga DY, Passos-Bueno MR.

Stem Cell Rev. 2015 Aug;11(4):635-44. doi: 10.1007/s12015-015-9592-x.

PMID:
25931278
32.

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.

Machado CO, Griesi-Oliveira K, Rosenberg C, Kok F, Martins S, Passos-Bueno MR, Sertie AL.

Eur J Hum Genet. 2016 Jan;24(1):59-65. doi: 10.1038/ejhg.2015.69. Epub 2015 Apr 22.

33.

A review of craniofacial disorders caused by spliceosomal defects.

Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT.

Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1. Review.

PMID:
25865758
34.

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

Bertola D, Passos-Bueno MR, Pereira A, Kim C, Morgan T, Robertson SP.

Am J Med Genet A. 2015 May;167A(5):1161-4. doi: 10.1002/ajmg.a.36981. Epub 2015 Mar 28. No abstract available.

PMID:
25820619
35.

Improvement of In Vitro Osteogenic Potential through Differentiation of Induced Pluripotent Stem Cells from Human Exfoliated Dental Tissue towards Mesenchymal-Like Stem Cells.

Ishiy FA, Fanganiello RD, Griesi-Oliveira K, Suzuki AM, Kobayashi GS, Morales AG, Capelo LP, Passos-Bueno MR.

Stem Cells Int. 2015;2015:249098. doi: 10.1155/2015/249098. Epub 2015 Jan 31.

36.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR.

J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20.

PMID:
25795793
37.

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D.

Am J Med Genet A. 2015 May;167A(5):1039-46. doi: 10.1002/ajmg.a.36789. Epub 2015 Feb 7.

PMID:
25663181
38.

Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders.

Suzuki AM, Griesi-Oliveira K, de Oliveira Freitas Machado C, Vadasz E, Zachi EC, Passos-Bueno MR, Sertie AL.

Mol Psychiatry. 2015 May;20(5):551-2. doi: 10.1038/mp.2014.175. Epub 2015 Jan 13. No abstract available.

PMID:
25582616
39.

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.

Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR.

Mol Psychiatry. 2015 Nov;20(11):1350-65. doi: 10.1038/mp.2014.141. Epub 2014 Nov 11.

40.

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

Moreira DP, Griesi-Oliveira K, Bossolani-Martins AL, Lourenço NC, Takahashi VN, da Rocha KM, Moreira ES, Vadasz E, Meira JG, Bertola D, O'Halloran E, Magalhães TR, Fett-Conte AC, Passos-Bueno MR.

PLoS One. 2014 Sep 25;9(9):e107705. doi: 10.1371/journal.pone.0107705. eCollection 2014.

41.

Further evidence of the importance of RIT1 in Noonan syndrome.

Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC.

Am J Med Genet A. 2014 Nov;164A(11):2952-7. doi: 10.1002/ajmg.a.36722. Epub 2014 Aug 13.

PMID:
25124994
42.

Genetics and genomics in Brazil: a promising future.

Passos-Bueno MR, Bertola D, Horovitz DD, de Faria Ferraz VE, Brito LA.

Mol Genet Genomic Med. 2014 Jul;2(4):280-91. doi: 10.1002/mgg3.95. No abstract available.

43.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR.

Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16.

44.

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B.

Genet Med. 2014 Sep;16(9):720-4. doi: 10.1038/gim.2014.12. Epub 2014 Mar 6.

PMID:
24603435
45.

Is bone transplantation the gold standard for repair of alveolar bone defects?

Raposo-Amaral CE, Bueno DF, Almeida AB, Jorgetti V, Costa CC, Gouveia CH, Vulcano LC, Fanganiello RD, Passos-Bueno MR, Alonso N.

J Tissue Eng. 2014 Jan 16;5:2041731413519352. doi: 10.1177/2041731413519352. eCollection 2014.

46.

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR.

Am J Hum Genet. 2014 Jan 2;94(1):113-9. doi: 10.1016/j.ajhg.2013.11.022.

47.

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR.

Am J Hum Genet. 2014 Jan 2;94(1):120-8. doi: 10.1016/j.ajhg.2013.11.020. Epub 2013 Dec 19.

48.

MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.

de Aquino SN, Hoshi R, Bagordakis E, Pucciarelli MG, Messetti AC, Moreira H, Bufalino A, Borges A, Rangel AL, Brito LA, Oliveira Swerts MS, Martelli-Junior H, Line SR, Graner E, Reis SR, Passos-Bueno MR, Coletta RD.

Birth Defects Res A Clin Mol Teratol. 2014 Jan;100(1):30-5. doi: 10.1002/bdra.23199. Epub 2013 Nov 19.

PMID:
24254627
49.

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.

Clouthier DE, Passos-Bueno MR, Tavares AL, Lyonnet S, Amiel J, Gordon CT.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):306-17. doi: 10.1002/ajmg.c.31376. Epub 2013 Oct 4. Review.

50.

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ.

PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.

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