Passos-Bueno MR - Search Results

1

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.

2

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

Passos-Bueno MR, Bakker E, Kneppers AL, Takata RI, Rapaport D, den Dunnen JT, Zatz M, van Ommen GJ. Passos-Bueno MR, et al. Am J Hum Genet. 1992 Nov;51(5):1150-5. Am J Hum Genet. 1992. PMID: 1415256 Free PMC article.

3

A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers.

Vainzof M, Passos-Bueno MR, Pavanello RC, Schreiber R, Zatz M. Vainzof M, et al. J Med Genet. 1992 Jul;29(7):476-9. J Med Genet. 1992. PMID: 1640426 Free PMC article.

4

Familial occurrence of Duchenne dystrophy through paternal lines in four families.

Zatz M, Passos-Bueno MR, Rapaport D, Vainzof M. Zatz M, et al. Am J Med Genet. 1991 Jan;38(1):80-4. doi: 10.1002/ajmg.1320380118. Am J Med Genet. 1991. PMID: 1849353

5

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy.

Rapaport D, Passos-Bueno MR, Brandão L, Love D, Vainzof M, Zatz M. Rapaport D, et al. Am J Med Genet. 1991 Jun 15;39(4):437-41. doi: 10.1002/ajmg.1320390414. Am J Med Genet. 1991. PMID: 1877622

6

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

Passos-Bueno MR, Terwilliger J, Ott J, Vainzof M, Love DR, Davies KE, Zatz M. Passos-Bueno MR, et al. Am J Med Genet. 1991 Jan;38(1):140-6. doi: 10.1002/ajmg.1320380130. Am J Med Genet. 1991. PMID: 2012126

7

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

Passos-Bueno MR, Rapaport D, Love D, Flint T, Bortolini ER, Zatz M, Davies KE. Passos-Bueno MR, et al. J Med Genet. 1990 Mar;27(3):145-50. doi: 10.1136/jmg.27.3.145. J Med Genet. 1990. PMID: 2182872 Free PMC article.

8

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.

Zatz M, Passos-Bueno MR, Rapaport D. Zatz M, et al. Am J Med Genet. 1989 Mar;32(3):407-10. doi: 10.1002/ajmg.1320320328. Am J Med Genet. 1989. PMID: 2658592

9

Hypothesis: the existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings.

Zatz M, Passos-Bueno MR, Vainzof M, Pavanello RC. Zatz M, et al. Am J Med Genet. 1989 Mar;32(3):438-41. doi: 10.1002/ajmg.1320320336. Am J Med Genet. 1989. PMID: 2658593 No abstract available.

10

Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?

Eggers S, Lauriano V, Melo M, Takata RI, Akiyama J, Passos-Bueno MR, Gentil V, Frota-Pessoa O, Zatz M. Eggers S, et al. Am J Med Genet. 1995 Feb 27;60(1):27-32. doi: 10.1002/ajmg.1320600106. Am J Med Genet. 1995. PMID: 7485231

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