Mayana Zatz

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Rett syndrome in a boy with a 47,XXY karyotype.

M. Zatz, J. S. Schwartzman, C. Koiffmann, 1999, American journal of human genetics.

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

M. Zatz, J. S. Schwartzman, A. Bernardino, 2001, Neuropediatrics.

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

R. Lemmers, J. Gurgel-Giannetti, R. Frants, 2004, Journal of Medical Genetics.

The Genetics of Alzheimer’s Disease in Brazil: 10 Years of Analysis in a Unique Population

R. Lemos, J. R. Oliveira, Mayana Zatz, 2008, Journal of Molecular Neuroscience.

African ancestry protects against Alzheimer's disease-related neuropathology

L. Grinberg, J. Farfel, R. Leite, 2011, Molecular Psychiatry.

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.

M. Passos-Bueno, M. Zatz, M. Vainzof, 1998, Journal of medical genetics.

Human Multipotent Mesenchymal Stromal Cells from Distinct Sources Show Different In Vivo Potential to Differentiate into Muscle Cells When Injected in Dystrophic Mice

M. Zatz, M. Vainzof, E. Zucconi, 2010, Stem Cell Reviews and Reports.

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-&ggr; Immunity

J. Casanova, H. Ochs, T. Torgerson, 2017, The Journal of infectious diseases.

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

M. Passos-Bueno, M. Zatz, K. Griesi-Oliveira, 2016 .

Global and local ancestry modulate APOE association with Alzheimer’s neuropathology and cognitive outcomes in an admixed sample

L. Grinberg, K. Yaffe, M. Zatz, 2022, Molecular Psychiatry.

Human Adipose-Derived Mesenchymal Stromal Cells Injected Systemically into GRMD Dogs without Immunosuppression are Able to Reach the Host Muscle and Express Human Dystrophin

M. Vainzof, A. Assoni, E. Zucconi, 2012, Cell transplantation.

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

Naomi R. Wray, Mamede de Carvalho, Blaz Koritnik, 2018, bioRxiv.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

Human Endometrial-Derived Mesenchymal Stem Cells Suppress Inflammation in the Central Nervous System of EAE Mice

M. Zatz, W. Brandão, J. Peron, 2012, Stem Cell Reviews and Reports.

Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

M. Zatz, A. Vianna-Morgante, A. Diament, 1981, Journal of medical genetics.

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

K. Davies, M. Passos-Bueno, M. Zatz, 1990, Journal of medical genetics.

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

K. Davies, M. Passos-Bueno, M. Zatz, 1993, American journal of medical genetics.

The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A

M. Zatz, M. Vainzof, F. de Paula, 2003, Journal of clinical pathology.

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.

M. Passos-Bueno, M. Zatz, M. Vainzof, 1999, American journal of medical genetics.

Association between APOE-ε4 allele and cognitive function is mediated by Alzheimer’s disease pathology: a population-based autopsy study in an admixed sample

C. Suemoto, W. Jacob-Filho, M. Naslavsky, 2023, Acta neuropathologica communications.

Mutations in the caveolin-3 gene: When are they pathogenic?

L. Kunkel, M. Zatz, M. Vainzof, 2001, American journal of medical genetics.

Neuropathological Lesions and Cognitive Abilities in Black and White Older Adults in Brazil

C. Suemoto, W. Jacob-Filho, M. Naslavsky, 2024, JAMA network open.

Molecular characterization of further dystrophin gene microsatellites.

A. Seller, M. Passos-Bueno, M. Zatz, 1995, Molecular and cellular probes.

Relation between height and clinical course in Duchenne muscular dystrophy.

M. Zatz, M. Vainzof, D. Rapaport, 1988, American journal of medical genetics.

Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita

J. Gurgel-Giannetti, L. Yamamoto, R. Pavanello, 2010, Muscle & nerve.

Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.

M. Zatz, A. Monticelli, S. Cocozza, 2001, Revista do Hospital das Clinicas.

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

P. Trillenberg, M. Zatz, J. Weis, 2010, Clinical genetics.

A multi‐ethnic reference panel to impute HLA classical and non‐classical class I alleles in admixed samples: Testing imputation accuracy in an admixed sample from Brazil

P. Gourraud, M. Naslavsky, N. Vince, 2024, HLA.

Neurodegeneration-associated protein VAPB regulates proliferation in medulloblastoma

F. Foijer, R. Wardenaar, C. Kaid, 2023, Scientific reports.

Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.

M. Zatz, I. Louro, B. Almada, 2012, Genetics and molecular research : GMR.