Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L, Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M, Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B, Machado-Costa, Marcela C, Wallgren-Pettersson, Carina, Laing, Nigel G, Nigro, Vincenzo, Vainzof, Mariz
Published in International journal of molecular sciences (09.10.2022)
Published in International journal of molecular sciences (09.10.2022)
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Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome
Mazzeu, Juliana F., Krepischi-Santos, Ana Cristina, Rosenberg, Carla, Szuhai, Karoly, Knijnenburg, Jeroen, Weiss, Janneke M.M., Kerkis, Irina, Mustacchi, Zan, Colin, Guilherme, Mombach, Rômulo, Pavanello, Rita de Cássia M., Otto, Paulo A., Vianna-Morgante, Angela M.
Published in American journal of medical genetics. Part A (01.08.2007)
Published in American journal of medical genetics. Part A (01.08.2007)
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Journal Article
Clinical variability in calpainopathy: what makes the difference?
de Paula, Flávia, Vainzof, Mariz, Passos-Bueno, Maria Rita, de Cássia M Pavanello, Rita, Matioli, Sergio Russo, V B Anderson, Louise, Nigro, Vincenzo, Zatz, Mayana
Published in European journal of human genetics : EJHG (01.12.2002)
Published in European journal of human genetics : EJHG (01.12.2002)
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Journal Article
Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals
Zatz, Mayana, Pavanello, Rita de Cassia M., Lourenço, Naila Cristina V., Cerqueira, Antonia, Lazar, Monize, Vainzof, Mariz
Published in Neuromolecular medicine (01.12.2012)
Published in Neuromolecular medicine (01.12.2012)
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Journal Article
Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina
Barboni, Mirella Telles Salgueiro, Martins, Cristiane Maria Gomes, Nagy, Balázs Vince, Tsai, Tina, Damico, Francisco Max, da Costa, Marcelo Fernandes, de Cassia, Rita, Pavanello, M, Lourenço, Naila Cristina Vilaça, de Cerqueira, Antonia Maria Pereira, Zatz, Mayana, Kremers, Jan, Ventura, Dora Fix
Published in Investigative ophthalmology & visual science (01.07.2016)
Published in Investigative ophthalmology & visual science (01.07.2016)
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Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy
Zatz, Mayana, Rapaport, Debora, Vainzof, Mariz, Passos-Bueno, Maria Rita, Bortolini, Eliete R., Pavanello, Rita de Cassia M., Peres, Clovis A.
Published in Journal of the neurological sciences (01.04.1991)
Published in Journal of the neurological sciences (01.04.1991)
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Journal Article
Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA)
Pavanello, R de C, Eigier, A, Otto, P A
Published in American journal of medical genetics (01.04.1988)
Published in American journal of medical genetics (01.04.1988)
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Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype
Vainzof, Mariz, Passos-Bueno, Maria Rita, Takata, Reinaldo I., Pavanello, Rita de Cassia M., Zatz, Mayana
Published in Journal of the neurological sciences (01.10.1993)
Published in Journal of the neurological sciences (01.10.1993)
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Journal Article
Fragile X frequency in a mentally retarded population in Brazil
Mingroni-Netto, R C, Rosenberg, C, Vianna-Morgante, A M, Pavanello, R de C
Published in American journal of medical genetics (01.01.1990)
Published in American journal of medical genetics (01.01.1990)
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Journal Article
Relation between height and clinical course in Duchenne muscular dystrophy
Zatz, M, Rapaport, D, Vainzof, M, Rocha, J M, Pavanello, R de C, Colletto, G M, Peres, C A
Published in American journal of medical genetics (01.02.1988)
Published in American journal of medical genetics (01.02.1988)
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Journal Article
Mazindol and growth hormone inhibition in Duchenne muscular dystrophy
Zatz, M, Vainzof, M, Rapaport, D, da Rocha, J M, Pavanello, R de C, Betti, R T
Published in American journal of medical genetics (01.08.1987)
Published in American journal of medical genetics (01.08.1987)
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Journal Article
Steroids in duchenne muscular dystrophy
Zatz, Mayana, Pavanello, Rita de Cassia M., Vainzof, Mariz, Passos-Bueno, Maria Rita
Published in Neuromuscular disorders : NMD (1992)
Published in Neuromuscular disorders : NMD (1992)
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Journal Article
Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy
Zatz, M, Rapaport, D, Vainzof, M, Pavanello, R de C, Rocha, J M, Betti, R T, Otto, P A
Published in American journal of medical genetics (01.12.1988)
Published in American journal of medical genetics (01.12.1988)
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