Passos-Bueno MR - Search Results

1

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. BMC Med Genet. 2009 Dec 14;10:136. doi: 10.1186/1471-2350-10-136. BMC Med Genet. 2009. PMID: 20003452 Free PMC article.

2

Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis.

Rabbi-Bortolini E, Bernardino AL, Lopes AL, Ferri AS, Passos-Bueno MR, Zatz M. Rabbi-Bortolini E, et al. Am J Med Genet. 1998 Apr 1;76(4):288-90. Am J Med Genet. 1998. PMID: 9545091

3

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. Am J Med Genet. 1998 Jul 7;78(3):237-41. Am J Med Genet. 1998. PMID: 9677057

4

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.

Zatz M, Sumita D, Campiotto S, Canovas M, Cerqueira A, Vainzof M, Passos-Bueno MR. Zatz M, et al. Am J Med Genet. 1998 Jul 24;78(4):361-5. doi: 10.1002/(sici)1096-8628(19980724)78:4<361::aid-ajmg11>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9714440

5

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A. Passos-Bueno MR, et al. J Med Genet. 1998 Aug;35(8):677-9. doi: 10.1136/jmg.35.8.677. J Med Genet. 1998. PMID: 9719378 Free PMC article.

6

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.

Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR. Moreira ES, et al. J Med Genet. 1998 Nov;35(11):951-3. doi: 10.1136/jmg.35.11.951. J Med Genet. 1998. PMID: 9832045 Free PMC article.

7

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. Sertié AL, et al. Hum Mol Genet. 2000 Aug 12;9(13):2051-8. doi: 10.1093/hmg/9.13.2051. Hum Mol Genet. 2000. PMID: 10942434

8

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. 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.

9

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. 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

10

A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.

Iughetti P, Suzuki O, Godoi PH, Alves VA, Sertié AL, Zorick T, Soares F, Camargo A, Moreira ES, di Loreto C, Moreira-Filho CA, Simpson A, Oliva G, Passos-Bueno MR. Iughetti P, et al. Cancer Res. 2001 Oct 15;61(20):7375-8. Cancer Res. 2001. PMID: 11606364

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