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Items: 1 to 20 of 244


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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

Faria ÁC, Rabbi-Bortolini E, Rebouças MR, de S Thiago Pereira AL, Frasson MG, Atique R, Lourenço NC, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FI.

Am J Med Genet A. 2016 Feb;170A(2):403-9. doi: 10.1002/ajmg.a.37448. Epub 2015 Nov 14.


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.


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.


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.


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.


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.


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