Passos-Bueno MR - Search Results

1

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. Keren B, et al. Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784. Am J Med Genet A. 2007. PMID: 17546652 No abstract available.

2

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR. Suzuki OT, et al. Am J Hum Genet. 2002 Dec;71(6):1320-9. doi: 10.1086/344695. Epub 2002 Nov 1. Am J Hum Genet. 2002. PMID: 12415512 Free PMC article.

3

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

Moreira ES, Vainzof M, Suzuki OT, Pavanello RC, Zatz M, Passos-Bueno MR. Moreira ES, et al. J Med Genet. 2003 Feb;40(2):E12. doi: 10.1136/jmg.40.2.e12. J Med Genet. 2003. PMID: 12566530 Free PMC article. No abstract available.

4

Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.

Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S. Kliemann SE, et al. Am J Med Genet A. 2003 May 15;119A(1):15-9. doi: 10.1002/ajmg.a.20070. Am J Med Genet A. 2003. PMID: 12707952

5

How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

Suzuki OT, Bagatini K, Sertié AL, Passos-Bueno MR. Suzuki OT, et al. Hum Mutat. 2005 Mar;25(3):314-5; author reply 316. doi: 10.1002/humu.20139. Hum Mutat. 2005. PMID: 15714516 No abstract available.

6

Mutations in collagen 18A1 and their relevance to the human phenotype.

Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, Sertié AL, Errera FI, Bagatini K, Kok F, Leite KR. Passos-Bueno MR, et al. An Acad Bras Cienc. 2006 Mar;78(1):123-31. doi: 10.1590/s0001-37652006000100012. Epub 2006 Mar 8. An Acad Bras Cienc. 2006. PMID: 16532212 Free article. Review.

7

COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients.

Errera FI, Canani LH, Yeh E, Kague E, Armelin-Corrêa LM, Suzuki OT, Tschiedel B, Silva ME, Sertié AL, Passos-Bueno MR. Errera FI, et al. An Acad Bras Cienc. 2008 Mar;80(1):167-77. doi: 10.1590/s0001-37652008000100012. An Acad Bras Cienc. 2008. PMID: 18345385 Free article.

8

Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

Suzuki O, Kague E, Bagatini K, Tu H, Heljasvaara R, Carvalhaes L, Gava E, de Oliveira G, Godoi P, Oliva G, Kitten G, Pihlajaniemi T, Passos-Bueno MR. Suzuki O, et al. Mol Vis. 2009;15:801-9. Epub 2009 Apr 23. Mol Vis. 2009. PMID: 19390655 Free PMC article.

9

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Moreira ES, et al. Nat Genet. 2000 Feb;24(2):163-6. doi: 10.1038/72822. Nat Genet. 2000. PMID: 10655062

10

Telethonin protein expression in neuromuscular disorders.

Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M. Vainzof M, et al. Biochim Biophys Acta. 2002 Oct 9;1588(1):33-40. doi: 10.1016/s0925-4439(02)00113-8. Biochim Biophys Acta. 2002. PMID: 12379311 Free article.

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