Zatz M - Search Results

1

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.

Naslavsky MS, Scliar MO, Nunes K, Wang JYT, Yamamoto GL, Guio H, Tarazona-Santos E, Duarte YAO, Passos-Bueno MR, Meyer D, Zatz M. Naslavsky MS, et al. Among authors: zatz m. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):357-363. doi: 10.1002/ajmg.c.31931. Epub 2021 Jun 29. Am J Med Genet C Semin Med Genet. 2021. PMID: 34189818

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. Among authors: zatz m. Am J Hum Genet. 1992 Nov;51(5):1150-5. Am J Hum Genet. 1992. PMID: 1415256 Free PMC article.

3

Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion.

Vainzof M, Passos-Bueno MR, Rapaport D, Pavanello RC, Zatz M, Bulman DE. Vainzof M, et al. Among authors: zatz m. Am J Med Genet. 1992 Oct 1;44(3):382-4. doi: 10.1002/ajmg.1320440323. Am J Med Genet. 1992. PMID: 1488991 No abstract available.

4

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. Among authors: zatz m. J Med Genet. 1992 Jul;29(7):476-9. J Med Genet. 1992. PMID: 1640426 Free PMC article.

5

Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study.

Vainzof M, Pavanello RC, Pavanello Filho I, Passos-Bueno MR, Rapaport D, Hsi CT, Zatz M. Vainzof M, et al. Among authors: zatz m. J Neurol Sci. 1990 Sep;98(2-3):221-33. doi: 10.1016/0022-510x(90)90263-m. J Neurol Sci. 1990. PMID: 1700808

6

Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein.

Vainzof M, Zubrzycka-Gaarn EE, Rapaport D, Passos-Bueno MR, Pavanello RC, Pavanello-Filho I, Zatz M. Vainzof M, et al. Among authors: zatz m. J Neurol Sci. 1991 Feb;101(2):141-7. doi: 10.1016/0022-510x(91)90038-9. J Neurol Sci. 1991. PMID: 1709683

7

Estimate of the intrafamilial correlation for serum creatine kinase and pyruvate kinase in females at risk for Duchenne and Becker muscular dystrophies.

Rabbi-Bortolini E, Dal Colletto GM, Passos-Bueno MR, Vainzof M, Rapaport D, Zatz M. Rabbi-Bortolini E, et al. Among authors: zatz m. Hum Hered. 1991;41(6):370-8. doi: 10.1159/000154029. Hum Hered. 1991. PMID: 1797630

8

Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages.

Vainzof M, Pavanello RC, Pavanello I, Tsanaclis AM, Levy JA, Passos-Bueno MR, Rapaport D, Zatz M. Vainzof M, et al. Among authors: zatz m. Neuromuscul Disord. 1991;1(3):177-83. doi: 10.1016/0960-8966(91)90022-k. Neuromuscul Disord. 1991. PMID: 1822792

9

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

10

Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates.

Passos-Bueno MR, Zatz M. Passos-Bueno MR, et al. Among authors: zatz m. J Med Genet. 1991 Apr;28(4):286-7. doi: 10.1136/jmg.28.4.286. J Med Genet. 1991. PMID: 1856839 Free PMC article. No abstract available.

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