Publicações

2015

Bertola D, Passos-Bueno MR, Pereira A, Kim C, Morgan T, Robertson SP. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. Am J Med Genet A. 2015 Mar 28. doi: 10.1002/ajmg.a.36981.

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, Dos Santos E Passos-Bueno MR. Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palate. Hum Mutat. 2015 Jun 29. doi: 10.1002/humu.22827.

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet A. 2015 Feb 7. doi: 10.1002/ajmg.a.36789 

Comim CM, Hoepers A, Ventura L, Freiberger V, Dominguini D, Mina F, Mendonça BP, Scaini G, Vainzof M, Streck EL, Quevedo J. Activity of Krebs cycle enzymes in mdx mice. Muscle Nerve. 2015 May 12. doi: 10.1002/mus.24704.

De Araújo ÉS, Kashiwabara AY, Achatz MI, Moredo LF, De Sá BC, Duprat JP, Rosenberg C, Carraro DM, Krepischi AC. LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis. Melanoma Res. 2015 Apr;25(2):173-7. doi: 10.1097/CMR.0000000000000141.

 

Fanganiello RD, Ishiy FA, Kobayashi GS, Alvizi L, Sunaga DY, Passos-Bueno MR. Increased In Vitro Osteopotential in SHED Associated with Higher IGF2 Expression When Compared with hASCs. Stem Cell Rev. 2015 May 1. 
 

Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Ribeiro-Bicudo LA. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22.
 

Ishiy FA, Fanganiello RD, Griesi-Oliveira K, Suzuki AM, Kobayashi GS, Morales AG, Capelo LP, Passos-Bueno MR. Improvement of In Vitro Osteogenic Potential through Differentiation of Induced Pluripotent Stem Cells from Human Exfoliated Dental Tissue towards Mesenchymal-Like Stem Cells. Stem Cells. Int. 2015;2015:249098. doi: 10.1155/2015/249098.

 

Lehalle D1, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects. Clin Genet. 2015 Apr 11. doi: 10.1111/cge.12596. 
 

Linhares ND, Svartman M, Rodrigues TC, Rosenberg C, Valadares ER. Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations. Eur J Med Genet. 2015 Mar 24. pii: S1769-7212(15)00060-9. doi: 10.1016/j.ejmg.2015.02.011.

Martins-Bach AB, Malheiros J, Matot B, Martins PC, Almeida CF, Caldeira W, Ribeiro AF, Loureiro de Sousa P, Azzabou N, Tannús A, Carlier PG, Vainzof M. Quantitative T2 Combined with Texture Analysis of Nuclear Magnetic Resonance Images Identify Different Degrees of Muscle Involvement in Three Mouse Models of Muscle Dystrophy: mdx, Largemyd and mdx/Largemyd. PLoS One. 2015 Feb 24;10(2):e0117835. doi: 10.1371/journal.pone.0117835. eCollection 2015.

 

Suzuki AM, Griesi-Oliveira K, de Oliveira Freitas Machado C, Vadasz E, Zachi EC, Passos-Bueno MR, Sertie AL. Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders. Mol Psychiatry. 2015 Jan 13. doi: 10.1038/mp.2014.175.

T. Jazedje, A. L. Ribeiro, M. Pellati, H. M. de Siqueira Bueno, G. Nagata, M. Trierveiler, E. G. Rodrigues, and M. Zatz. Human Mesenchymal Stromal Cells Transplantation May Enhance or Inhibit 4T1 Murine Breast Adenocarcinoma through Different Approaches. Volume 2015 (2015), Article ID 796215, 11 pages

 

Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD. Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotypeNeuromuscul Disord. 2015 Mar 3. pii: S0960-8966(15)00068-1. doi: 10.1016/j.nmd.2015.02.012.

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.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 
J Med Genet. 2015 Mar 20. pii: jmedgenet-2015-103018. doi: 10.1136/jmedgenet-2015-103018. 

 

Zatz M, Vieira NM, Zucconi E, Pelatti M, Gomes J, Vainzof M, Martins-Bach AB, Garcia Otaduy MC, Bento Dos Santos G, Amaro E Jr, Landini V, Andrade T. A normal life without muscle dystrophinNeuromuscul Disord. 2015 Feb 24. pii: S0960-8966(15)00061-9. doi: 10.1016/j.nmd.2015.02.007.