Alonso N - Search Results

1

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Jehee FS, Burin BA, Rocha KM, Zechi-Ceide R, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Jehee FS, et al. Among authors: alonso n. Am J Med Genet A. 2009 Jun;149A(6):1319-22. doi: 10.1002/ajmg.a.32849. Am J Med Genet A. 2009. PMID: 19449419 No abstract available.

2

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF. Passos-Bueno MR, et al. Among authors: alonso n, alonso lg. Am J Med Genet. 1998 Jul 7;78(3):237-41. Am J Med Genet. 1998. PMID: 9677057

3

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. Splendore A, et al. Among authors: alonso n, alonso lg. Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H. Hum Mutat. 2000. PMID: 11013442 Review.

4

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.

Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. Iughetti P, et al. Among authors: alonso n, alonso lg. Am J Med Genet. 2000 Dec 18;95(5):482-91. doi: 10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11146471

5

Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate.

Gaspar DA, Matioli SR, de Cássia Pavanello R, Araújo BC, Alonso N, Wyszynski D, Passos-Bueno MR. Gaspar DA, et al. Among authors: alonso n. Eur J Hum Genet. 2004 Jul;12(7):521-6. doi: 10.1038/sj.ejhg.5201187. Eur J Hum Genet. 2004. PMID: 15054400

6

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study.

Passos-Bueno MR, Gaspar DA, Kamiya T, Tescarollo G, Rabanéa D, Richieri-Costa A, Alonso N, Araújo B. Passos-Bueno MR, et al. Among authors: alonso n. Cleft Palate Craniofac J. 2004 Jul;41(4):387-91. doi: 10.1597/03-054.1. Cleft Palate Craniofac J. 2004. PMID: 15222785

7

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.

Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NA, Bueno DF, Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR. Fanganiello RD, et al. Among authors: alonso n. Mol Med. 2007 Jul-Aug;13(7-8):422-42. doi: 10.2119/2007–00027.Fanganiello. Mol Med. 2007. PMID: 17622301 Free PMC article.

8

Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells.

de Mendonça Costa A, Bueno DF, Martins MT, Kerkis I, Kerkis A, Fanganiello RD, Cerruti H, Alonso N, Passos-Bueno MR. de Mendonça Costa A, et al. Among authors: alonso n. J Craniofac Surg. 2008 Jan;19(1):204-10. doi: 10.1097/scs.0b013e31815c8a54. J Craniofac Surg. 2008. PMID: 18216690

9

New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients.

Bueno DF, Kerkis I, Costa AM, Martins MT, Kobayashi GS, Zucconi E, Fanganiello RD, Salles FT, Almeida AB, do Amaral CE, Alonso N, Passos-Bueno MR. Bueno DF, et al. Among authors: alonso n. Tissue Eng Part A. 2009 Feb;15(2):427-35. doi: 10.1089/ten.tea.2007.0417. Tissue Eng Part A. 2009. PMID: 18816169

10

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR. Masotti C, et al. Among authors: alonso n. BMC Med Genet. 2009 Dec 14;10:136. doi: 10.1186/1471-2350-10-136. BMC Med Genet. 2009. PMID: 20003452 Free PMC article.

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